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Wyświetlanie 1-15 z 34
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:
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:
Sampling Properties of Estimators of Nucleotide Diversity at Discovered snp Sites
Autorzy:
Renwick, A.
Bonnen, P. E.
Trikka, D.
Nelson, D. L.
Chakraborty, R.
Kimmel, M.
Powiązania:
https://bibliotekanauki.pl/articles/908150.pdf
Data publikacji:
2003
Wydawca:
Uniwersytet Zielonogórski. Oficyna Wydawnicza
Tematy:
genetyka
statystyka
single nucleotide polymorphisms
ascertainment bias
nucleotide diversity
molecular evolution
Opis:
SNP sites are generally discovered by sequencing regions of the human genome in a limited number of individuals. This may leave SNP sites present in the region, but containing rare mutant nucleotides, undetected. Consequently, estimates of nucleotide diversity obtained from assays of detected SNP sites are biased. In this research we present a statistical model of the SNP discovery process, which is used to evaluate the extent of this bias. This model involves the symmetric Beta distribution of variant frequencies at SNP sites, with an additional probability that there is no SNP at any given site. Under this model of allele frequency distributions at SNP sites, we show that nucleotide diversity is always underestimated. However, the extent of bias does not seem to exceed 10-15% for the analyzed data. We find that our model of allele frequency distributions at SNP sites is consistent with SNP statistics derived based on new SNP data at ATM, BLM, RQL and WRN gene regions. The application of the theory to these new SNP data as well as to the literature data at the LPL gene region indicates that in spite of ascertainment biases, the observed differences of nucleotide diversity across these gene regions are real. This provides interesting evidence concerning the heterogeneity of the rates of nucleotide substitution across the genome.
Źródło:
International Journal of Applied Mathematics and Computer Science; 2003, 13, 3; 385-394
1641-876X
2083-8492
Pojawia się w:
International Journal of Applied Mathematics and Computer Science
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Hepatocyte nuclear factor 4 alpha P2 promoter variants associate with insulin resistance
Autorzy:
Saif-Ali, Riyadh
Harun, Roslan
Al-Jassabi, S.
Wan Ngah, Wan
Powiązania:
https://bibliotekanauki.pl/articles/1039910.pdf
Data publikacji:
2011
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
insulin resistance
HNF4 alpha
single nucleotide polymorphisms
haplotypes
Opis:
This study aimed to investigate the associations of hepatocyte nuclear factor 4 (HNF4) alpha single nucleotide polymorphisms (SNPs) and haplotype with insulin resistance and metabolic syndrome parameters. Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region (rs2144908, rs6031551, rs6031552, rs1885088, rs1028583 and rs3818247) were genotyped in 160 subjects without diabetes or metabolic syndrome. The HNF4 alpha P2 promoter SNPs rs4810424, rs1884613 and rs1884614 were associated with insulin resistance (p = 0.017; 0.037; 0.024) and body mass index (BMI) (p = 0.03; 0.035; 0.039). The intron 1D SNP rs2144908 was associated with high-density lipoprotein cholesterol (HDLc) (p = 0.020) and the intron 9 SNP rs3818247 showed association with systolic (p = 0.02) and diastolic (p = 0.034) blood pressure. HNF4 alpha common haplotype CCCGTC associated with higher insulin resistance (p = 0.022), fasting blood glucose (FBG) (p = 0.035) and lower HDLc (p = 0.001). In conclusion, subjects with HNF4 alpha P2 variants and haplotypes have been shown to have a higher insulin resistance and are therefore at a higher risk for developing type 2 diabetes mellitus.
Źródło:
Acta Biochimica Polonica; 2011, 58, 2; 179-186
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
An association of the MCP-1 and CCR2 single nucleotide polymorphisms with colorectal cancer prevalence
Autorzy:
Walczak, Anna
Przybyłowska-Sygut, Karolina
Sygut, Andrzej
Cieślak, Adrianna
Mik, Michał
Dziki, Łukasz
Dziki, Adam
Majsterek, Ireneusz
Powiązania:
https://bibliotekanauki.pl/articles/1393280.pdf
Data publikacji:
2017
Wydawca:
Index Copernicus International
Tematy:
colorectal cancer
MCP-1
CCR-2
single nucleotide polymorphisms
Opis:
The aim of the study: We evaluated the connection between the presence of the -2518 A/G MCP-1 as well as 190 G/A CCR2 polymorphic variants and colorectal cancer (CRC) occurrence. Material and methods: Study group consisted of subjects with different stages of CRC as well as healthy controls. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: W observed an association between the colorectal cancer and the GG genotype of the -2518 A/G MCP-1 single nucleotide polymorphism. No statistically significant correlation was found between CRC and the 190 G/A CCR2 polymorphism. Conclusion: The results of this study support the hypothesis that polymorphism in the MCP-1 gene may contribute to the etiology of colorectal cancer.
Źródło:
Polish Journal of Surgery; 2017, 89, 5; 1-5
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
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:
Lack of signals of selection at candidate loci at a small geographical scale along a steep altitudinal gradient in Norway spruce (Picea abies [L.] Karst.)
Autorzy:
Hrivnak, M.
Krajmerova, D.
Gomory, D.
Powiązania:
https://bibliotekanauki.pl/articles/2117886.pdf
Data publikacji:
2019
Wydawca:
Polska Akademia Nauk. Czasopisma i Monografie PAN
Tematy:
local adaptation
single nucleotide polymorphisms
FST-outliers
spatial analysis method
Opis:
Local adaptation is a key concept in biology: shift of genetic structures of populations due to differential survival of genotypes is expected to lead to phenotypes providing an advantage in the local environment. Variation of sequences of twelve candidate genes was investigated in 13 Norway spruce (Picea abies (L.) Karst.) provenances originating from sites distributed along an altitudinal gradient from 550 to 1300 m a.s.l. Signals of selection were assessed in 103 single nucleotide polymorphisms (SNP). The Bayesian FST-outlier identification methods as implemented in the programs BayeScan and Arlequin did not identify any SNP with a clear evidence of selection. The approaches relying on SNP-climate associations (spatial analysis method based on logistic regression of allele frequencies with environmental variables, Bayesian method applied in BayEnv2) identified several relationships but none of them remained significant after correction for multiple testing. Gene flow, epigenetic inheritance and former management of the studied populations are discussed as potential reasons for this weak evidence of selec- tion signals.
Źródło:
Acta Biologica Cracoviensia. Series Botanica; 2019, 61, 1; 43-51
0001-5296
Pojawia się w:
Acta Biologica Cracoviensia. Series Botanica
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:
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:
Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay
Autorzy:
Stopińska, Katarzyna
Grzybowski, Tomasz
Malyarchuk, Boris
Derenko, Miroslava
Miścicka-Śliwka, Danuta
Powiązania:
https://bibliotekanauki.pl/articles/1041222.pdf
Data publikacji:
2006
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
real-time PCR
polymerase γ
progressive external ophthalmoplegia
single nucleotide polymorphisms (SNPs)
Opis:
Many well-defined mutations in the gene for the catalytic subunit of polymerase γ (POLG1) have been found to be associated with disease, whereas the status of several mutations remains unresolved due to the conflicting reports on their frequencies in populations of healthy individuals. Here, we have developed a highly sensitive, real-time allelic discrimination assay enabling detection of the Y831C mutation in the POLG1 gene. The Y831C mutation is present in the Polish population at a frequency of 2.25%. The new assay is well suited to both extensive population studies and molecular diagnostics of POLG1.
Źródło:
Acta Biochimica Polonica; 2006, 53, 3; 591-595
0001-527X
Pojawia się w:
Acta Biochimica Polonica
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:
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 RBMS1 gene rs7593730 and BCAR1 gene rs7202877 and Type 2 diabetes mellitus in the Chinese Han population
Autorzy:
Kazakova, Elena
Chen, Meijun
Jamaspishvili, Esma
Lin, Zhang
Yu, Jingling
Sun, Lulu
Qiao, Hong
Powiązania:
https://bibliotekanauki.pl/articles/1038363.pdf
Data publikacji:
2018
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
type 2 diabetes mellitus
RBMS1 gene
BCAR1 gene
single nucleotide polymorphisms
SNPscan
Opis:
Two recent studies found that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 are related to type 2 diabetes. However, the association of these loci with type 2 diabetes mellitus (T2DM) has not been examined in Chinese. We performed a replication study to investigate the association of the 2 susceptibility loci with T2DM in the Chinese population. We genotyped 1961 Chinese participants (991 with T2DM and 970 controls) for each of the 2 single nucleotide polymorphisms (SNPs) rs7593730 in RBMS1 and rs7202877 near BCAR1 using SNPscan and examined their association with T2DM using logistic regression analysis. We also analyzed the correlation of the SNP alleles and clinical phenotypes. In additive model, genotype association analysis of BCAR1 rs7202877 loci revealed that the homozygous of rs7202877 GG carriers had significantly decreased T2DM risk compared to homozygous carriers of TT (P=0.038, OR 0.44, 95% CI 0.20-0.96). In the recessive model, the GG genotype GG had significantly decreased T2DM risk compared to GT+TT (P=0.043, OR 0.67, 95% CI 0.46-0.99). Allele G was statistically significantly correlated with TC (mmol/L) (P=0.036) and LDL-C (mmol/L) (P=0.007). As for rs7593730, the carriers of CT and TT genotype had significantly decreased T2DM risk compared to the carriers of CC genotype (CT: CC P=0.038, OR 0.71, 95% CI 0.51-0.98; TT: CC P=0.010, OR 0.32, 95% CI 0.13-0.76). In a dominant model, TT+CT: CC (P=0.013, OR 0.673, 95% CI 0.49-0.92) and in a recessive model, TT: CT+CC (P=0.019, OR 0.59, 95% CI 0.39-0.92). The T allele carriers had significantly decreased T2DM risk compared to the carriers of C (P=0.002, OR 0.65, 95% CI 0.50-0.86). Allele T was statistically correlated with FINS (P=0.010). In conclusion, our study showed that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 were significantly associated with type 2 diabetes in the Chinese population.
Źródło:
Acta Biochimica Polonica; 2018, 65, 3; 377-382
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Wyświetlanie 1-15 z 34

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