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Tytuł:
Association between a nucleotide polymorphism in the calpain 10 gene and carbohydrate metabolism disturbances in patients with polycystic ovary syndrome
Autorzy:
Szydlarska, Dorota
Machaj, Małgorzata
Powiązania:
https://bibliotekanauki.pl/articles/552368.pdf
Data publikacji:
2016
Wydawca:
Stowarzyszenie Przyjaciół Medycyny Rodzinnej i Lekarzy Rodzinnych
Tematy:
diabetes
hyperandrogenism
single nucleotide polymorphism.
Źródło:
Family Medicine & Primary Care Review; 2016, 4; 497-500
1734-3402
Pojawia się w:
Family Medicine & Primary Care Review
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Characterisation of genome-wide structural aberrations in canine mammary tumours using single nucleotide polymorphism (SNP) genotyping assay
Autorzy:
Surdyka, M.
Gurgul, A.
Slaska, B.
Pawlina, K.
Szmatola, T.
Bugno-Poniewierska, M.
Smiech, A.
Kasperek, K.
Powiązania:
https://bibliotekanauki.pl/articles/2087566.pdf
Data publikacji:
2019
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
dog
cancer
mammary tumour
structural aberration
CNV
LOH
Źródło:
Polish Journal of Veterinary Sciences; 2019, 1; 133-141
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
A study of single nucleotide polymorphism in the ystB gene of Yersinia enterocolitica strains isolated from various wild animal species
Autorzy:
Bancerz-Kisiel, Agata
Szczerba-Turek, Anna
Platt-Samoraj, Aleksandra
Michalczyk, Maria
Szweda, Wojciech
Powiązania:
https://bibliotekanauki.pl/articles/988986.pdf
Data publikacji:
2017
Wydawca:
Instytut Medycyny Wsi
Tematy:
hrm
snp
wild animal species
y. enterocolitica
ystb
Opis:
Introduction and objective. Y. enterocolitica is the causative agent of yersiniosis. The objective of the article was a study of single nucleotide polymorphism in the ystB gene of Y. enterocolitica strains isolated from various wild animal species. Materials and method. High-resolution melting (HRM) analysis was applied to identify single nucleotide polymorphism (SNP) of ystB gene fragments of 88 Y. enterocolitica biotype 1A strains isolated from wild boar, roe deer, red deer and wild ducks. Results. HRM analysis revealed 14 different melting profiles – 4 of them were defined as regular genotypes (G1, G2, G3, G4), whereas 10 as variations. 24 of the examined Y. enterocolitica strains were classified as G1, 18 strains as a G2, 21 strains as a G3, and 15 strains as a G4. Nucleotide sequences classified as G1 revealed 100% similarity with the Y. enterocolitica D88145.1 sequence (NCBI). Analysis of G2 revealed one point mutation – transition T111A. One mutation was also found in G3, but SNP was placed in a different gene region – transition G193A. Two SNPs – transitions G92C and T111A – were identified in G4. Direct sequencing of 10 variations revealed 5 new variants of the ystB nucleotide sequence: V1 – transition G129A (3 strains); V2 – transitions T111A and G193A (2 strains); V3 – transitions C118T and G193A (1 strain); V4 – transitions C141A and G193A (2 strains); and V5 characterized by 19 SNPs: G83A, T93A, A109G, G114T, C116T, A123G, T134C, T142G, T144C, A150C, G162A, T165G, T170G, T174A, T177G, G178A, A179G, A184G and G193A (2 strains). The predominant genotype in isolates from wild ducks was G1; in red deer G2; in wild boar G3; in roe deer G1 and G4. Conclusions. The proposed HRM method could be used to analyze Y. enterocolitica biotype 1A strains isolated from different sources, including humans.
Źródło:
Annals of Agricultural and Environmental Medicine; 2017, 24, 1
1232-1966
Pojawia się w:
Annals of Agricultural and Environmental Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
SOCS3 is epigenetically up-regulated in steroid resistant nephrotic children
Autorzy:
Zaorska, Katarzyna
Zawierucha, Piotr
Ostalska-Nowicka, Danuta
Nowicki, Michał
Powiązania:
https://bibliotekanauki.pl/articles/1038853.pdf
Data publikacji:
2016
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
methylation
nephrotic syndrome
single nucleotide polymorphism
steroid resistance
Opis:
Background. The mechanism of steroid resistance in children with the nephrotic syndrome is yet unknown. About 20% of patients demonstrate steroid unresponsiveness and progress to end stage renal disease. Aberrant SOCS3 and SOCS5 expression in steroid resistant and sensitive patients has previously been demonstrated. Here, we investigate genetic and epigenetic mechanisms of regulation of SOCS3 and SOCS5 transcription in nephrotic children. Methods. 76 patients with the nephrotic syndrome (40 steroid resistant and 36 steroid sensitive) and 33 matched controls were included in this study. We performed genotyping of a total of 34 single nucleotide polymorphisms for SOCS3 and SOCS5 promoters and evaluated their methylation status using MS-PCR and QMSP methods. Results. Steroid resistant patients had a significantly lower methylation of one region of SOCS3 promoter in comparison with steroid sensitive patients and controls (p < 0.0001). However, the relative methylation level in the steroid sensitive patients and controls differed significantly even before the first steroid dose (p = 0.001758). Other SOCS3 and SOCS5 promoter regions displayed no differences in methylation or were fully methylated/unmethylated in all study groups, showing site-specific methylation. The allele and genotype distribution for SOCS3 and SOCS5 markers did not differ statistically between the groups. Conclusions. We demonstrate an epigenetic mechanism of SOCS3 up-regulation in steroid resistant children with the nephrotic syndrome. The assessment of methylation/unmethylation of SOCS3 promoter might be an early marker for steroid responsiveness in NS patients.
Źródło:
Acta Biochimica Polonica; 2016, 63, 1; 131-138
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Single nucleotide polymorphism within arylsulfatase D gene (ARSD) is associated with selected kinematic parameters of sperm motility in Holstein-Friesian bulls
Autorzy:
Hering, D.
Lecewicz, M.
Kordan, W.
Kaminski, S.
Powiązania:
https://bibliotekanauki.pl/articles/30896.pdf
Data publikacji:
2014
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Opis:
The aim of the study was to find out whether the single nucleotide polymorphism (SNP) within arylsulfatase D (ARSD) gene is associated with kinematic parameters of sperm motility in Holstein- Friesian bulls. 367 Holstein-Friesian bulls kept in one AI center were included in the study. Point mutation C/T at position 139037255 on chromosome X (rs42207167) was identified by PCR-RFLP method (Pflm I). Significant associations were found between ARSD genotypes and CASA-derived sperm motility parameters: average TM (Total Motility), average VSL (Straight Velocity), average VCL (Curvilinear Velocity) and for fraction of sperms showing progressive motility (a) of sperms (VSLa, VCLa and BCFa -Beat Cross Frequency). Most significant differences were observed between alternative homozygotes (CC vs TT). Our results suggest new role of arylsulfatase D gene as being involved in sperm motility.
Źródło:
Polish Journal of Veterinary Sciences; 2014, 17, 3
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The -2518 A/G MCP-1 polymorphism as a risk factor of inflammatory bowel disease
Autorzy:
Walczak, Anna
Przybyłowska, Karolina
Sygut, Andrzej
Dziki, Łukasz
Chojnacki, Cezary
Chojnacki, Jan
Dziki, Adam
Majsterek, Ireneusz
Powiązania:
https://bibliotekanauki.pl/articles/1394594.pdf
Data publikacji:
2012
Wydawca:
Index Copernicus International
Tematy:
single nucleotide polymorphism
MCP-1 gene
inflammatory bowel disease
Opis:
Inflammatory bowel diseases (IBD) are disorders originated from immune disturbances. The aim of the study was to evaluate the association between the -2518 A/G MCP-1 polymorphism and the risk of IBD development. Material and methods. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Study group consisted of 197 subjects with IBD (120 with ulcerative colitis and 77 with Crohn’s disease) as well as 210 healthy controls. Results. The presence of the -2518 G/G MCP-1 genotype in the investigated groups seems to be connected with higher risk of inflammatory bowel disease as well as Crohn’s disease only (OR 2.26; 95% CI 1.44-3.54 and OR 2.08; 95% CI 1.21-3.46, respectively). Conclusions. Our data showed that the -2518 A/G MCP-1 polymorphism might be associated with the IBD occurrence and might be used as predictive factor of these diseases in a Polish population.
Źródło:
Polish Journal of Surgery; 2012, 84, 5; 238-241
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
SNP panel for evaluation of genetic variability and relationship in roe deer (Capreolus capreolus)
Autorzy:
Oleński, K.
Zalewski, D.
Kamiński, S.
Powiązania:
https://bibliotekanauki.pl/articles/16647455.pdf
Data publikacji:
2023
Wydawca:
Polska Akademia Nauk. Czasopisma i Monografie PAN
Tematy:
Capreolus capreolus
genetic diversity
roe deer
Single Nucleotide Polymorphism marker
Opis:
Blood samples from forty-six roe deer (Capreolus capreolus) acquired during officially approved hunting in six hunting divisions throughout Poland were used to isolate the genomic DNA. All individuals were genotyped by MD_Bovine BeadChip (Illumina) for 46.750 Single Nucleotide Polymorphism (SNP) markers. SNPs of inappropriate clusters, with a marker call rate lower than 90% and with a minor allele frequency (MAF) lower than 0.01, located on sex chromosomes and mitochondrial DNA, were removed. Altogether, 21.033 SNP markers were included for further analysis. Observed and expected heterozygosity amounted to 0.098 and 0.119, respectively. Among 21.033 markers, a panel of 148 SNPs were selected for relationship analysis. They were unlinked and had a MAF higher than 0.2. This set of SNPs showed a probability of parentage exclusion of 1.29x10 -6 and 2.37x10 -19 for one, and two known parents, respectively. The probability of identity was estimated at 1.8x10 -40. The probabilities obtained in this study are sufficient for the monitoring and effective management of the genetic diversity of roe deer in Poland and is a cost-effective complementary tool for forensic applications.
Źródło:
Polish Journal of Veterinary Sciences; 2023, 26, 1; 29-37
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Matrix metalloproteinase-2 C-1306T promoter polymorphism and breast cancer risk in the Saudi population
Autorzy:
Saeed, Hesham
Alanazi, Mohammad
Alshahrani, Omair
Parine, Narasimha
Alabdulkarim, Huda
Shalaby, Manal
Powiązania:
https://bibliotekanauki.pl/articles/1039541.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
breast cancer
matrix metalloproteinases
single nucleotide polymorphism
TaqMan Allele Discrimination assay
Opis:
Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity against matrix proteins, particularly basement membrane constituents. A single nucleotide polymorphism (SNP) at -1306, which disrupts a Sp1-type promoter site (CCACC box), displayed a strikingly lower promoter activity with the T allele. In the present study, we investigate whether this MMP-2 SNP is associated with susceptibility to breast cancer in the Saudi population. Ninety breast cancer patients and 92 age matched controls were included in this study. TaqMan Allele Discrimination assay and DNA sequencing techniques were used for genotyping. The results showed that, the frequency of MMP-2 CC wild genotype was lower in breast cancer patients when compared with healthy controls (0.65 versus 0.79). The homozygous CC (OR=2, χ2=5.36, p=0.02) and heterozygous CT (OR=1.98, χ2=4.1, p=0.04) showing significantly high risk of breast cancer in the investigated group. In conclusion our data suggest that the MMP-2 C-1306T polymorphism may be associated with increased breast cancer risk in the Saudi population.
Źródło:
Acta Biochimica Polonica; 2013, 60, 3; 405-409
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Preliminary study to explore gene-$\text{PM}_\text{2.5}$ interactive effects on respiratory system in traffic policemen
Autorzy:
Zhao, Jinzhuo
Bo, Liang
Gong, Changyi
Cheng, Peng
Kan, Haidong
Xie, Yuquan
Song, Weimin
Powiązania:
https://bibliotekanauki.pl/articles/2177102.pdf
Data publikacji:
2015-08-07
Wydawca:
Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
Tematy:
inflammation
Fine Particles
traffic workers
respiratory system
single nucleotide polymorphism
SNP
Opis:
Objectives Traffic-related particulate matter (PM) is one of the major sources of air pollution in metropolitan areas. This study is to observe the interactive effects of gene and fine particles (particles smaller than 2.5 μm – $\text{PM}_\text{2.5}$) on the respiratory system and explore the mechanisms linking $\text{PM}_\text{2.5}$ and pulmonary injury. Material and Methods The participants include 110 traffic policemen and 101 common populations in Shanghai, China. Continuous 24 h individual-level $\text{PM}_\text{2.5}$ is detected and the pulmonary function, high-sensitivity C-reactive protein (hs-CRP), Clara cell protein 16 (CC16) and the polymorphism in CXCL3, NME7 and C5 genes are determined. The multiple linear regression method is used to analyze the association between $\text{PM}_\text{2.5}$ and health effects. Meanwhile, the interactive effects of gene and $\text{PM}_\text{2.5}$ on lung function are analyzed. Results The individual $\text{PM}_\text{2.5}$ exposure for traffic policemen was higher than that in the common population whereas the forced expiratory volume in 1 s (FEV₁), the ratio of FEV₁ to forced vital capacity (FEV₁/FVC) and lymphocytes are lower. In contrast, the hs-CRP level is higher. In the adjusted analysis, $\text{PM}_\text{2.5}$ exposure was associated with the decrease in lymphocytes and the increase in hs-CRP. The allele frequencies for NME7 and C5 have significant differences between FEV₁/FVC ≤ 70% and FEV₁/FVC > 70% participants. The results didn’t find the interaction effects of gene and $\text{PM}_\text{2.5}$ on FEV₁/FVC in all the 3 genes. Conclusions The results indicated that traffic exposure to high levels of $\text{PM}_\text{2.5}$ was associated with systemic inflammatory response and respiratory injury. Traffic policemen represent a high risk group suffering from the respiratory injury.
Źródło:
International Journal of Occupational Medicine and Environmental Health; 2015, 28, 6; 971-983
1232-1087
1896-494X
Pojawia się w:
International Journal of Occupational Medicine and Environmental Health
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Computational study of ACE and AGT gene of RAAS pathway
Autorzy:
Nisha, Nisha
Kaur, Satbir
Kaur, Sumanpreet
Kumar, Sandeep
Galhna, Kiranjeet Kaur
Kaur, Kamaljeet
Powiązania:
https://bibliotekanauki.pl/articles/1112240.pdf
Data publikacji:
2018
Wydawca:
Przedsiębiorstwo Wydawnictw Naukowych Darwin / Scientific Publishing House DARWIN
Tematy:
Angiotensin converting enzyme
Angiotensinogen
Hypertension
Renin angiotensin aldosterone system
Single nucleotide polymorphism
Opis:
Renin angiotensin aldosterone system (RAAS) is a hormone regulatory hormone system that regulate blood pressure. The two major genes ACE and AGT are the players of RAAS pathway. These genes codes for angiotensin convertase enzyme and angiotensinogen protein respectively. The angiotensin convertase enzyme convert inactive angiotensinogen into active angiotensin which further helps in the regulation of blood pressure. Due to imbalance in this pathway may cause hypertension. So in the present study we decided to perform the computational study of ACE and AGT gene. We evaluated the deleterious/damaging effect of SNPs of ACE and AGT gene by SIFT and I-Mutant2.0. The total number of SNPs predicted to be deleterious by both tools were 5 (1.83%) and 22 (6.07%) for AGT and ACE genes respectively. We also studied subcellular location of ACE and AGT genes and drugs targeting these genes from database GeneCards. Further the result output of both the softwares were also compared.
Źródło:
World News of Natural Sciences; 2018, 19; 65-77
2543-5426
Pojawia się w:
World News of Natural Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Polymorphic variants of MIF gene and prognosis in steroid therapy in children with idiopathic nephrotic syndrome
Autorzy:
Świerczewska, Monika
Ostalska-Nowicka, Danuta
Kempisty, Bartosz
Szczepankiewicz, Aleksandra
Nowicki, Michał
Powiązania:
https://bibliotekanauki.pl/articles/1039333.pdf
Data publikacji:
2014
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
nephrotic syndrome
steroid resistance
MIF gene
single nucleotide polymorphism
short tandem repeat
Opis:
Nephrotic syndrome (NS) is the most common reason of proteinuria in children and can be caused by the pathology of renal glomeruli. Steroid therapy is typically used in this disorder. It has been shown that MIF is a cytokine which counteracts the immunosuppressive properties of glucocorticoids. The aim of this study was looking for a correlation between MIF polymorphisms and genetic susceptibility to steroid resistance in children with INS (Idiopathic NS). Methods: The study was performed in 71 patients with INS including SRNS (steroid resistance nephrotic syndrome) (41) and SSNS (steroid sensitive nephrotic syndrome) (30) and in 30 control subjects. We employed Sanger sequencing and capillary electrophoresis. Linkage disequilibrium was made using Haploview and PHASE. Results: We didn't observe a statistical significance between SNPs detected in patients with INS and controls. Our studies revealed statistical significance for two polymorphisms: rs2070767C > T and rs2000466T > G between patients with SRNS and SSNS. The results for rs34383331T > A are close to being statistically significant. Statistical significance was revealed for CATT5/CATT6 genotype in SRNS group vs SSNS group (OR=4.604, 95%CI=1.356-15.632, p=0.0168). We found that the frequency of 5/X-CATT genotype compared with X/X-CATT genotype was significantly higher in SRNS patients vs SSNS (OR=3.167, 95%CI=1.046-9.585, p=0.0426). In linkage disequilibrium analysis we didn't show involvement in susceptibility to INS and steroid sensitive phenotype. Conclusions: Our results suggest that the role of MIF polymorphisms in the susceptibility to positive response to steroid therapy is still unresolved. It indicates that MIF may be involved in indirect and complex molecular mechanisms of steroid activity in hormone-dependent metabolic pathways in children with INS. Because of ambiguous findings, pleiotropic features of this cytokine require that more research should be undertaken.
Źródło:
Acta Biochimica Polonica; 2014, 61, 1; 67-75
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Farmakogenetyczne uwarunkowania lekooporności w padaczce
Pharmacogenetic determinants of drug resistance in epilepsy
Autorzy:
Kozera-Kępniak, Alicja
Jastrzębski, Karol
Klimek, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/1053516.pdf
Data publikacji:
2013
Wydawca:
Medical Communications
Tematy:
cytochrome P450
drug transporter proteins
drug-resistant epilepsy
farmakogenetyka
pharmacogenetics
single nucleotide polymorphism – SNP
padaczka lekooporna
cytochrom p450
białka transportujące leki
polimorfizm
polimorfizm pojedynczych nukleotydów (single nucleotide polymorphism snp)
Opis:
Epilepsy is one of the most common CNS disorders occurring in approximately 1% of the world population. It is characterized by the occurrence of recurrent attacks of varying symptomatology. It is estimated that 30% of patients, despite the appropriate antiepileptic treatment, still experiencing seizures. In this case we are dealing with so-called the phenomenon of drug resistance. In Poland, this problem concerns about 100–120 thousand patients. Predisposing factors for epilepsy include: onset of symptoms before 1 year of age, high frequency of seizures before treatment and structural changes of the brain, including cortical malformations. Uncontrolled seizures affect the patients quality of life, increasing the risk of injury, affecting the physical well-being and psychosocial functioning. Despite knowing these presumable risk factors for epilepsy, it remains unknown why in the two patients with the same type of epilepsy or the same type of seizure, efficacy of antiepileptic drugs can be extremely different. Potential reasons for this may be genetic factors, changing the pharmacodynamic and pharmacokinetic attributes of antiepileptic drugs. Among these factors is mentioned genetically determined polymorphism of some microsomal enzymes (CYP2C9, CYP2C19), P-glycoprotein, a protein MRP (multidrug resistance-associated protein) and pharmacodynamic malfunction of GABA (GABAA) and ion channels. It seems that research on the mechanisms of drug resistance may lead to the introduction of new therapeutic strategies This article aims to show the impact of genetic factors to the lack of treatment efficacy in epilepsy.
Padaczka jest jedną z najczęstszych chorób ośrodkowego układu nerwowego, występującą u około 1% populacji na świecie. Charakteryzuje się występowaniem nawracających napadów o różnej symptomatologii. Szacuje się, że u 30% pacjentów mimo prowadzonego właściwego leczenia przeciwpadaczkowego nadal występują napady drgawkowe. Jest to tak zwane zjawisko lekooporności. W Polsce problem ten dotyczy około 100 000–120 000 chorych. Czynnikami predysponującymi do wystąpienia padaczki lekoopornej są: ujawnienie się choroby przed 1. rokiem życia, duża częstotliwość napadów przed rozpoczęciem leczenia oraz zmiany strukturalne mózgu, w tym wady rozwojowe kory mózgowej. Niekontrolowane napady padaczkowe pogarszają jakość życia chorych, zwiększając ryzyko urazów, wpływając negatywnie na samopoczucie fizyczne oraz funkcjonowanie psychospołeczne. Chociaż znane są potencjalne czynniki ryzyka, to nadal nie wiadomo, dlaczego u dwóch pacjentów z tym samym rodzajem padaczki lub tym samym typem napadów skuteczność leczenia lekami przeciwpadaczkowymi może być skrajnie różna. Wśród możliwych przyczyn tego zjawiska wymienia się czynniki genetyczne, zmieniające właściwości farmakodynamiczne i farmakokinetyczne stosowanych leków. Do grupy tych czynników zalicza się: genetycznie uwarunkowany polimorfizm niektórych enzymów mikrosomalnych (CYP2C9, CYP2C19), glikoproteiny P, białka MRP (multidrug resistance-associated protein) oraz zaburzenia funkcji farmakodynamicznych receptorów GABA (GABAA) i kanałów jonowych. Wydaje się, że badania nad mechanizmami lekooporności mogą skutkować wprowadzeniem nowych strategii terapeutycznych. Niniejszy artykuł ma na celu przedstawienie wpływu powyżej wymienionych czynników genetycznych na brak skuteczności leczenia w padaczce.
Źródło:
Aktualności Neurologiczne; 2013, 13, 2; 96-102
1641-9227
2451-0696
Pojawia się w:
Aktualności Neurologiczne
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
A comprehensive in silico prediction of the most deleterious missense variants in the bovine LEP gene
Autorzy:
Al-Shuhaib, M.B.S.
Powiązania:
https://bibliotekanauki.pl/articles/80824.pdf
Data publikacji:
2019
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
LEP gene
leptin
biological activity
bovine gene
single nucleotide polymorphism
coding sequence
cattle
Źródło:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2019, 100, 4
0860-7796
Pojawia się w:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Association between UBE2E2 variant rs7612463 and type 2 diabetes mellitus in a Chinese Han Population
Autorzy:
Kazakova, Elena
Wu, Yanhui
Zhou, Zhongyu
Chen, Meijun
Wang, Tongtong
Tong, Huixin
Zhuang, Tianwei
Sun, Lulu
Qiao, Hong
Powiązania:
https://bibliotekanauki.pl/articles/1039098.pdf
Data publikacji:
2015
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Type 2 diabetes mellitus
UBE2E2
rs7612463
Single nucleotide polymorphism
SNPscan
Opis:
UBE2E2 encodes ubiquitin-conjugating enzyme E2E2, which plays an important role in the synthesis and secretion of insulin. Two previous studies indicated that SNPs in UBE2E2 were associated with risk for type 2 diabetes mellitus (T2DM) in the Japanese and Korean populations, respectively. We examined the association of one SNP in this gene, rs7612463, with the risk of T2DM in 1957 Han participants in northeastern China, using an SNPscanTM Kit. rs7612463 genotype was significantly associated with risk for T2DM under various genetic models, including an additive model (P = 0.004), a dominant model (P = 0.024), and a recessive model (P = 0.008). The AA genotype was associated with a significantly decreased risk for T2DM (P = 0.004, OR = 0.513, 95% CI = 0.325-0.810) after adjustment for age, gender, and BMI. The heterozygous genotype, AC, was associated with increased risk for total cholesterol (mmol l-1; P = 0.031) and triglycerides (mmol l-1; P = 0.039) in control individuals. Our results show that rs7612463 is associated with T2DM, with homozygotes of the AA genotype at decreased risk for T2DM in the Chinese population. Additionally, heterozygotes may have decreased risk of T2DM due to insulin resistance.
Źródło:
Acta Biochimica Polonica; 2015, 62, 2; 241-245
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
CTLA-4 polymorphisms (+49 A/G and -318 C/T) are important genetic determinants of AITD susceptibility and predisposition to high levels of thyroid autoantibodies in Polish children - preliminary study
Autorzy:
Pastuszak-Lewandoska, Dorota
Domańska, Daria
Rudzińska, Magdalena
Bossowski, Artur
Kucharska, Anna
Sewerynek, Ewa
Czarnecka, Karolina
Migdalska-Sęk, Monika
Czarnocka, Barbara
Powiązania:
https://bibliotekanauki.pl/articles/1039459.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Graves' disease
Hashimoto's thyroiditis
autoimmune thyroid disease
CTLA-4
single nucleotide polymorphism
TAb production
Opis:
Autoimmune thyroid diseases (AITDs), including Hashimoto' s thyroiditis (HT) and Graves' disease (GD), are related to environmental and genetic factors. We analyzed the association of cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) gene two polymorphisms (+49 A/G, -318 C/T) with HT and GD development in Polish children, and correlated both polymorphisms with the production of thyroid autoantibodies (TPOAb and TgAb). The study involved 49 AITD patients (age 10-19) with HT (n=25) or GD (n=24) and 69 healthy controls. SNP genotyping was performed using genomic DNA and TaqMan® probes. The obtained results indicated that CTLA-4 +49 GG genotype was significantly more frequent in both HT and GD patients, whereas the AA genotype was more common in controls. CTLA-4-318 CT genotype was significantly more frequent in AITD, and the CC genotype more often occurred in controls. Significantly higher median TPOAb and TgAb values were associated with G allele in HT, and with T allele in GD patients. Concluding, both studied polymorphisms seem to be important genetic determinants of the risk of HT and GD, and appear to be associated with a predisposition to high levels of TAbs and clinical AITD. The obtained results give more information on the distribution of the CTLA-4 polymorphism in Polish AITD children, and further support the proposal that the CTLA-4 gene plays an important role in a TAb production.
Źródło:
Acta Biochimica Polonica; 2013, 60, 4; 641-646
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Joint effect of N-acetyltransferase 2 gene and smoking status on bladder carcinogenesis in Algerian population
Autorzy:
Ribouh-Arras, A.
Chaoui-Kherouatou, N.
Hireche, A.
Abadi, N.
Satta, D.
Powiązania:
https://bibliotekanauki.pl/articles/80202.pdf
Data publikacji:
2019
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
N-acetyltransferase 2 gene
genetic polymorphism
malignancy
bladder cancer
single nucleotide polymorphism
phenotype
smoking
Algerian population
Źródło:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2019, 100, 2
0860-7796
Pojawia się w:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Prediction of indels and SNP’s in coding regions of glutathione peroxidases - an important enzyme in redox homeostasis of plants
Autorzy:
Ganguli, S.
Datta, A.
Powiązania:
https://bibliotekanauki.pl/articles/11303.pdf
Data publikacji:
2014
Wydawca:
Przedsiębiorstwo Wydawnictw Naukowych Darwin / Scientific Publishing House DARWIN
Tematy:
prediction
indel
single nucleotide polymorphism
coding region
glutathione peroxidase
enzyme
redox
homeostasis
plant
genotype
stress tolerance
Opis:
Plant glutathione peroxidases are an important class of enzymes which play key roles in the stress adaptability of plants both in context of biotic and abiotic stress pathways. They have been over the years much studied in animals since the catalytic residues are comprised of selenocysteine a variant amino acid which is ribosomally encoded with the help of an RNA structural element known as SECIS. Various workers over the years have shown that plant glutathione peroxidases play active roles in ROS sequestration, lipid hydroperoxidation as well as regulate glutathione levels. However, each plant has various patterns of glutathione peroxidase expression and action and in some plants certain isoforms have not been detected at all. This work focuses on the prediction and identification of single nucleotide polymorphisms (SNPs) and INDELs in the coding regions of plant glutathione peroxidases, with the help of a Bayesian based algorithm subsequently validated. A large number of informative sites were detected 279 of which had variant frequency of ≥ 50 %. This data should be beneficial for future studies involving genetic manipulation and population based breeding experiments.
Źródło:
International Letters of Natural Sciences; 2014, 02
2300-9675
Pojawia się w:
International Letters of Natural Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Genetic diversity in Vernonia amygdalina Delile accessions revealed by random amplified polymorphic DNAs (RAPDs)
Autorzy:
Aikpokpodion, P.
Abebe, J.
Igwe, D.
Powiązania:
https://bibliotekanauki.pl/articles/79809.pdf
Data publikacji:
2018
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
genetic diversity
Vernonia amygdalina
random amplified polymorphic DNA
polymorphism
molecular characteristics
single-nucleotide polymorphism
geographic differentiation
Źródło:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2018, 99, 2
0860-7796
Pojawia się w:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Identification of single nucleotide polymorphism within bactencin-5 and bactencin-7 coding genes in association with milk production traits
Identyfikacja polimorfizmów pojedynczego nukleotydu w obrębie genów kodujujących baktencynę-5 i baktencynę-7 w powiązaniu z cechami produkcji mleka
Autorzy:
Hiller, S.
Kowalewska, I.
Powiązania:
https://bibliotekanauki.pl/articles/29433590.pdf
Data publikacji:
2022
Wydawca:
Zachodniopomorski Uniwersytet Technologiczny w Szczecinie. Wydawnictwo Uczelniane ZUT w Szczecinie
Tematy:
bactensins
bactencin-5
bactencin-7
coding gene
CATHL2
CATHL3
dairy cattle
single-nucleotide polymorphism
Źródło:
Acta Scientiarum Polonorum. Zootechnica; 2022, 21, 4; 17-22
1644-0714
Pojawia się w:
Acta Scientiarum Polonorum. Zootechnica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Detection of SNPs based on DNA specific-locus amplified fragment sequencing in Chinese fir (Cunninghamia lanceolata (Lamb.) Hook)
Autorzy:
Su, Y.
Hu, D.
Zheng, H.
Powiązania:
https://bibliotekanauki.pl/articles/41243.pdf
Data publikacji:
2016
Wydawca:
Polska Akademia Nauk. Instytut Dendrologii PAN
Tematy:
detection
single nucleotide polymorphism
DNA specific-locus amplified fragment sequencing
fir
Chinese fir
Cunninghamia lanceolata
genotyping
Opis:
Compared to angiosperms, conifers represent more complex genomes with larger giga-genome size. To detect large-scale single nucleotide polymorphisms (SNPs), whole genome sequencing of a conifer population is still unaffordable. In this work, we report the use of DNA specific-locus amplified fragment sequencing (SLAF-seq) for large-scale SNP detection in Chinese fir (Cunninghamia lanceolata (Lamb.) Hook), an ecological and economic important conifer in China. SLAF libraries of 18 parent clones of a Chinese fir 2.5 generation seed orchard were sequenced and a total of 117,924 SLAFs were developed. We detected 147,376 SNPs from these SLAFs; 146,231 of them represented simple nucleotide change in A/G, C/T, A/C, A/T, C/G or G/T. The most frequent SNPs occurred in C/T (34.3%), while the majority of SNPs (68.2%) belonged to transition events (A/G and C/T). Notably, all the sequenced samples had high portion (78.2–80.9%) of common SNPs indicating that the Chinese fir genomes tended to change its nucleotides at common loci. 48,406 informative SNPs were then successfully utilized to genotype the tested samples (n = 18) followed by a phylogenetic tree to clarify their genetic relationship. Furthermore, a set of very high linkage disequilibrium (0.51–1.00) were identified from these informative SNPs. In brief, our work demonstrated that SLAF-seq is an alternative and cost-effectively high-throughput approach for large-scale SNP exploitation in Chinese fir. While the obtained SNPs offer useful marker resource for further genetic and genomic studies and will be helpful for Chinese fir breeding programs.
Źródło:
Dendrobiology; 2016, 76
1641-1307
Pojawia się w:
Dendrobiology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular identification of blast resistance genes in rice genotypes using gene-specific markers
Autorzy:
Al-Daej, M.I.
Ismail, M.
Rezk, A.A.
El-Malky, M.M.
Powiązania:
https://bibliotekanauki.pl/articles/80189.pdf
Data publikacji:
2019
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
molecular identification
resistance gene
rice genotype
Oryza sativa
DNA marker
single-nucleotide polymorphism
simple sequence repeat
Źródło:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2019, 100, 3
0860-7796
Pojawia się w:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The mRNA sequence polymorphisms of flowering key genes in bolting sensitive or tolerant sugar beet genotypes
Autorzy:
Alimirzaee, M.
Mirzaie-Asl, A.
Abdollahi, M.R.
Kolaei, H.E.
Fasahat, P.
Powiązania:
https://bibliotekanauki.pl/articles/79841.pdf
Data publikacji:
2017
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
sugar-beet
Beta vulgaris ssp.maritima
mRNA
polymorphism
flowering
single nucleotide polymorphism
genetic control
RNA extraction
protein structure prediction
Źródło:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2017, 98, 3
0860-7796
Pojawia się w:
BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Czy „cichy” polimorfizm pojedynczego nukleotydu (SNP) C1236T genu ABCB1 jest związany z predyspozycją do rozwoju depresji i skutecznością jej leczenia? - badanie wstępne
Is the „silent” single nucleotide polymorphism (SNP) C1236T of ABCB1 gene associated with predisposition to depression development and efficiency of therapy? – preliminary study
Autorzy:
Jeleń, Agnieszka
Koziróg, Anna
Sałagacka, Aleksandra
Balcerczak, Ewa
Talarowska, Monika
Gałecki, Piotr
Powiązania:
https://bibliotekanauki.pl/articles/1032546.pdf
Data publikacji:
2014
Wydawca:
Łódzkie Towarzystwo Naukowe
Tematy:
abcb1
polimorfizm pojedynczego nukleotydu
c1236t
glikoproteina p
depresja
farmakogenomika
podatność
single nucleotide polymorphism
p-glycoprotein
depression
pharmacogenomics
susceptibility
Opis:
Introduction: According to the World Health Organization about 350 million people around the world are affected by depression. Despite the high prevalence of this disease the mechanism of depression origination as well as the causes of the resistance to therapy are still not fully understood. ABCB1 gene encode P glycoprotein which is one of the components of blood-brain barrier. The main function of this protein is the efflux of many toxic compounds, including drugs, which may indicate potential association between the proper functioning of P glycoprotein and the susceptibility to the development of depressive disorders or the failure of antidepressant therapy. The objective of this study was to evaluate single nucleotide polymorphism (SNP) C1236T of the ABCB1 gene in the group of patients with recurrent depressive disorder (rDD) and to estimate the possible association of this polymorphism with the response to antidepressant therapy. Material and methods: C1236T was evaluated in 30 patients with rDD. Genotyping was performed using automated sequencing (the Sanger method). The results were compared with those obtained from the control group which consisted of 96 blood donors from the local blood bank. Results: No statistically significant difference in the frequency of genotypes (p=0.0665) and allele (p=0.1489) for the SNP C1236T of ABCB1 gene was found between the patients with rDD and the control group. No correlation between C1236 and the age when the disease was stated (p=0.0807). Neither the association between genotypes and the severity of depressive symptoms before treatment (p=0.7956) nor the association with effectiveness of the therapy (p=0.2051) were found. Conclusions: On the basis of the results of the preliminary study, C1236T of ABCB1 gene have no influence on the predisposition to rDD, the severity of depressive symptoms and the efficiency of antidepressant therapy have not been stated, either.
Streszczenie Wstęp: Według danych Światowej Organizacji Zdrowia depresja dotyka około 350 milionów osób na całym świecie. Jednak pomimo powszechnego występowania, zarówno etiologia tej choroby, jak i przyczyny oporności na leczenie w dalszym ciągu nie są w pełni poznane. Gen ABCB1 koduje glikoproteinę P, która jest jednym z elementów bariery krew-mózg. Główną funkcją białka jest usuwanie związków toksycznych, w tym także leków, co może wskazywać na potencjalny związek między prawidłowym działaniem glikoproteiny P a predyspozycją do rozwoju zaburzeń depresyjnych czy niepowodzeniem terapii lekami przeciwdepresyjnymi. Celem pracy była ocena polimorfizmu pojedynczego nukleotydu (ang. single nucleotide polymorphism - SNP) C1236T genu ABCB1 wśród chorych na zaburzenia depresyjne nawracające (ang. recurrent depressive disorder - rDD) oraz oszacowanie potencjalnego związku tego polimorfizmu z odpowiedzią na terapię lekami przeciwdepresyjnymi. Materiał i metody: Polimorfizm C1236T oceniono w grupie 30 pacjentów, u których zdiagnozowano rDD. Genotyp określono wykorzystując technikę automatycznego sekwencjonowania metodą Sangera. Otrzymane wyniki porównano z wynikami grupy kontrolnej, którą stanowiło 96 dawców krwi z lokalnego banku krwiodawstwa. Wyniki: Nie stwierdzono istotnych statystycznie różnic w częstości występowania poszczególnych genotypów (p=0,0665) i alleli (p=0,1489) polimorfizmu C1236T genu ABCB1 między grupą pacjentów z rDD a grupą kontrolną. Nie wykazano również zależności pomiędzy C1236T a wiekiem w chwili diagnozy rDD (p=0,0807), nasileniem objawów depresji przed rozpoczęciem terapii (p=0,7956) czy skutecznością leczenia przeciwdepresyjnego (p=0,2051). Wnioski: Na podstawie wyników badania wstępnego, stwierdzono brak wpływu polimorfizmu C1236T genu ABCB1 na predyspozycję do rozwoju rDD, nasilenie objawów depresji w chwili diagnozy czy skuteczność terapii przeciwdepresyjnej.
Źródło:
Folia Medica Lodziensia; 2014, 41, 1; 5-15
0071-6731
Pojawia się w:
Folia Medica Lodziensia
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Association between polymorphisms in CHRNA3 and PHACTR2 gene and environment and NSCLC risk in Chinese population
Autorzy:
Lou, Guangyuan
Zhang, Yongjun
Bao, Wenlong
Deng, Dehou
Powiązania:
https://bibliotekanauki.pl/articles/1039210.pdf
Data publikacji:
2014
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Non-small cell lung cancer
phosphatase and actin regulator 2 (PHACTR2)
cholinergic receptor
nicotinic
alpha 3 (CHRNA3)
single-nucleotide polymorphism
Opis:
Aims. This study aimed to investigate CHRNA3 (rs8040868) and PHACTR2 (rs9390123) single-nucleotide polymorphisms (SNPs) for association with non-small-cell lung cancer (NSCLC) risk in a Chinese population, and whether the environment affects the genetic polymorphisms. Methods. This case and control study included 500 NSCLC patients and 500 age-matched healthy controls. CHRNA3 (rs8040868) and PHACTR2 (rs9390123) SNPs were genotyped and associated for NSCLC risk by computing the odds ratio and 95% confidence interval from multivariate unconditional logistic regression analyses with adjustment of age. Results. The minor allele frequency (MAF) of CHRNA3 (rs8040868) and PHACTR2 (rs9390123) was 0.350 (C) and 0.397 (C), respectively. The frequencies of genotype and allele in CHRNA3 (rs8040868) and PHACTR2 (rs9390123) were not significantly different between the cases and controls, or between either of the subgroups. Conclusion. Although rs8040868 and rs9390123 SNPs are not associated with NSCLC risk in Chinese population, the results strongly suggest that geographical agents interact with human genetic polymorphism independent of ethnic background.
Źródło:
Acta Biochimica Polonica; 2014, 61, 4; 765-768
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Różnice genetyczne i psychologiczne w percepcji bólu u zawodników sportów walki
Genetic and psychological differences in pain perception in martial arts athletes
Autorzy:
Leźnicka, K.
Pierzchlińska, A.
Starkowska, A.
Machoy-Mokrzyńska, A.
Białecka, M.
Powiązania:
https://bibliotekanauki.pl/articles/135816.pdf
Data publikacji:
2017
Wydawca:
Wyższa Szkoła Techniczno-Ekonomiczna w Szczecinie
Tematy:
percepcja bólu
próg bólu
tolerancja na ból
sportowcy
polimorfizm pojedynczego nukleotydu
stres
metody radzenia sobie ze stresem
temperament
pain perception
pain threshold
pain tolerance
athletes
single nucleotide polymorphism
stress coping methods
Opis:
Wstęp i cel: Wielu autorów podkreśla fakt zmniejszonego progu bólowego, a także tolerancji na ból u sportowców. Wciąż jednak nie wiadomo, w jakim stopniu mają w tym udział czynniki genetyczne, a w jakim psychologiczne i psychospołeczne. Celem niniejszej pracy jest przedstawienie możliwych mechanizmów wpływających na różnice w percepcji bólu. Materiał i metody: Na podstawie dostępnego piśmiennictwa autorzy opisali metody pomiaru natężenia bólu oraz przedstawili możliwe źródła różnic w percepcji bólu u zawodników sportów walki w stosunku do osób nieuprawiających zawodowo sportu. Wyniki: Opracowano poszczególne czynniki mogące wpływać na percepcję bólu u sportowców. Wniosek: Mimo braku różnic genetycznych w polimorfizmach pojedynczych nukleotydów genów OPRM1 i COMT, zanotowano istotne różnice w metodach radzenia sobie ze stresem oraz w natężeniu cech temperamentu między zawodnikami sportów walki a grupami kontrolnymi. Prawdopodobne, że cechy temperamentu wpływają na wypracowanie określonych strategii radzenia sobie z bólem.
Introduction and aim: Many authors emphasise lower pain threshold and pain tolerance among athletes. Though, it is not known to what degree genetic, psychological and psychosocial factors are involved. The aim of this paper is to present possible mechanisms affecting the differences in pain perception. Material and methods: On the grounds of the available literature, the authors describe the pain measure methods and present the possible source of the pain perception differences in martial arts athletes compared to non-athletes. Results: Several factors likely to be involved in pain perception among athletes has been elaborated. Conclusion: Although, there have been no differences in single nucleotide polymorphisms in genes OPRM1 and COMT, significant differences in stress coping strategies and temperament traits between martial arts athletes and control groups have been found. Presumably, temperament traits influence the development of particular pain coping strategies.
Źródło:
Problemy Nauk Stosowanych; 2017, 7; 183-190
2300-6110
Pojawia się w:
Problemy Nauk Stosowanych
Dostawca treści:
Biblioteka Nauki
Artykuł
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