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Wyświetlanie 1-15 z 27
Tytuł:
A review of studies about the genes encoding the collagen proteins in the context of the anterior cruciate ligament rupture
Autorzy:
Szumiło, Piotr
Powiązania:
https://bibliotekanauki.pl/articles/1055131.pdf
Data publikacji:
2014
Wydawca:
Uniwersytet Szczeciński. Wydawnictwo Naukowe Uniwersytetu Szczecińskiego
Tematy:
ACL rupture
collagen genes
polymorphisms
Opis:
ACL rupture is a common injury in professional sport as well as recreation. It happens most often during deceleration, lateral pivoting, or landing tasks. Most often it is a non-contact mechanism during which the knee is exposed to large forces. The main component of the ACL, reaching 75% of the content, is collagen. Ligaments are made of several types of collagen, which perform different functions. It has been proved that various variants of collagen genes and their interaction with other genes may significantly influence the risk of injury to the ACL. This publication contains a review of studies about polymorphisms of collagen genes in the context of ACL rupture.
Źródło:
Central European Journal of Sport Sciences and Medicine; 2014, 5, 1; 91-97
2300-9705
2353-2807
Pojawia się w:
Central European Journal of Sport Sciences and Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Impact of APEX Ile64val Gene Polymorphisms of DNA Repair Ber System on Modulation of the Risk of Colorectal Cancer in the Polish Population
Autorzy:
Kabziński, Jacek
Majsterek, Ireneusz
Mik, Michał
Dziki, Adam
Dziki, Łukasz
Maciejczak, Lucjan
Powiązania:
https://bibliotekanauki.pl/articles/1395566.pdf
Data publikacji:
2015-03-01
Wydawca:
Index Copernicus International
Tematy:
colorectal cancer
polymorphisms
APEX
DNA repair
Opis:
Colorectal cancer (CRC) is one of the deadliest cancers which lie in the incidence of morbidity in second place. Intensive research is to determine and confirm the genetic basis of this disease, which is believed may have a direct relationship with the reduced efficiency of DNA repair systems. The aim of this study was to determine the effect of APEX gene polymorphism Ile64Val on increasing the risk of colorectal cancer in the Polish population. Material and methods. The blood samples collected from 150 patients diagnosed with colon cancer was used. The control group consisted of 150 healthy subjects. Genotyping was performed by TaqMan method. Results. The results indicate that genotype Ile Val is associated with an increased risk of colorectal cancer (OR 2.069; 95% CI 1,205-3,552; p = 0.008). Conclusions. Based on these results, we conclude that the APEX gene polymorphism Ile64Val may be associated with an increased risk of colorectal cancer.
Źródło:
Polish Journal of Surgery; 2015, 87, 3; 121-123
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Heme oxygenase-1 expression in disease states.
Autorzy:
Deshane, Jessy
Wright, Marcienne
Agarwal, Anupam
Powiązania:
https://bibliotekanauki.pl/articles/1041399.pdf
Data publikacji:
2005
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
heme oxygenase-1
heme
cytoprotection
polymorphisms
disease
Opis:
Heme oxygenase-1 (HO-1) is an enzyme which catalyzes the rate-limiting step in heme degradation resulting in the formation of iron, carbon monoxide and biliverdin, which is subsequently converted to bilirubin by biliverdin reductase. The biological effects exerted by the products of this enzymatic reaction have gained much attention. The anti-oxidant, anti-inflammatory and cytoprotective functions associated with HO-1 are attributable to one or more of its degradation products. Induction of HO-1 occurs as an adaptive and beneficial response to several injurious stimuli including heme and this inducible nature of HO-1 signifies its importance in several pathophysiological disease states. The beneficial role of HO-1 has been implicated in several clinically relevant disease states involving multiple organ systems as well as significant biological processes such as ischemia-reperfusion injury, inflammation/immune dysfunction and transplantation. HO-1 has thus emerged as a key target molecule with therapeutic implications.
Źródło:
Acta Biochimica Polonica; 2005, 52, 2; 273-284
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Application of polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) in the analysis of single nucleotide polymorphisms (SNPs)
Autorzy:
Tarach, Piotr
Powiązania:
https://bibliotekanauki.pl/articles/1830648.pdf
Data publikacji:
2021-09-29
Wydawca:
Uniwersytet Łódzki. Wydawnictwo Uniwersytetu Łódzkiego
Tematy:
nucleotide polymorphisms
DNA analysis
polymerase chain reaction
Opis:
Polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) is a technique used to identify single nucleotide polymorphisms (SNPs) based on the recognition of restriction sites by restriction enzymes. RFLP-PCR is an easy-to-perform and inexpensive tool for initial analysis of SNPs potentially associated with some monogenic diseases, as well as in genotyping, genetic mapping, lineage screening, forensics and ancient DNA analysis. The RFLP-PCR method employs four steps: (1) isolation of genetic material and PCR; (2) restriction digestion of amplicons; (3) electrophoresis of digested fragments; and (4) visualisation. Despite its obsolescence and the presence of high-throughput DNA analysis techniques, it is still applied in the analysis of SNPs associated with disease entities and in the analysis of genetic variation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). RFLP-PCR is a low-cost and low-throughput research method allowing for the analysis of SNPs in the absence of specialised equipment, and it is useful when there is a limited budget.
Źródło:
Acta Universitatis Lodziensis. Folia Biologica et Oecologica; 2021, 17; 48-53
1730-2366
2083-8484
Pojawia się w:
Acta Universitatis Lodziensis. Folia Biologica et Oecologica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular basis of mechanisms of steroid resistance in children with nephrotic syndrome
Autorzy:
Świerczewska, Monika
Ostalska-Nowicka, Danuta
Kempisty, Bartosz
Nowicki, Michał
Zabel, Maciej
Powiązania:
https://bibliotekanauki.pl/articles/1039528.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
nephrotic syndrome
glucocorticoid receptor
steroid resistance
polymorphisms
Opis:
Steroid therapy, due to a wide range of anti-inflammatory properties of steroids, is a basic field of treatment in many human diseases including the nephrotic syndrome in children. However, not all patients respond positively to therapy which divides them into steroid sensitive (SS) and steroid resistance (SR) individuals. Many potential factors associated with steroid resistance have been identified so far. It seems that genetic factors associated with glucocorticoid receptor α (GRα), the structure of heterocomplex of GR as well as glycoprotein P or cytochrome P450 may play a role in the induction of glucocorticoid resistance. Here we described several of the molecular mechanisms, which can regulate glucocorticoid sensitivity and resistance. Moreover, we presented genetic defects, which can lead to various effects of treatment and, in a longer perspective, enable clinicians to individualize therapies.
Źródło:
Acta Biochimica Polonica; 2013, 60, 3; 339-344
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves disease
Autorzy:
Horst-Sikorska, Wanda
Ignaszak-Szczepaniak, Magdalena
Marcinkowska, Michalina
Kaczmarek, Marta
Stajgis, Malgorzata
Slomski, Ryszard
Powiązania:
https://bibliotekanauki.pl/articles/1040758.pdf
Data publikacji:
2008
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Graves' disease
bone mineral density
VDR polymorphisms
Opis:
Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI may predispose women with Graves' hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients' BMD and also SNPs and haplotypes association with Graves' disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and TaqI polymorphims that formed three most frequent haplotypes in Graves' women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves' patients. However, the presence of F allele had a weak tendency to be associated with Graves' disease (with OR=1.93; 95% CI: 0.97-3.84; p=0.058). In conclusion: VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves'. It may be speculated that the F allele carriers of the VDR-FokI polymorphism are predisposed to Graves' disease development.
Źródło:
Acta Biochimica Polonica; 2008, 55, 2; 371-380
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Association of Polymorphism of Lys589glu Exo1 Gene with the Risk of Colorectal Cancer in the Polish Population
Autorzy:
Kabziński, Jacek
Przybylowska, Karolina
Mik, Michał
Sygut, Andrzej
Dziki, Łukasz
Dziki, Adam
Majsterek, Ireneusz
Powiązania:
https://bibliotekanauki.pl/articles/1395790.pdf
Data publikacji:
2014-08-01
Wydawca:
Index Copernicus International
Tematy:
colorectal cancer
polymorphisms
EXO1
DNA repair
Opis:
The incidence of colorectal cancer (CRC) is increasing from year to year. Despite intensive research CRC etiology remains unknown. Studies suggest that at the basis of the process of carcinogenesis can lie reduced efficiency of DNA repair mechanisms, often caused by polymorphisms in DNA repair genes. The aim of the study was to determine the relationship between gene polymorphism Lys589Glu of EXO1 gene and modulation of the risk of colorectal cancer in the Polish population. Determination of the molecular basis of carcinogenesis process and predicting increased risk will allow qualifying patients to increased risk group and including them in preventive program. Material and methods. The material used in study was blood collected from 130 patients diagnosed with colorectal cancer. The control group consisted of 135 healthy people. Genotyping was performed by TaqMan method. Results. The results obtained indicate that the genotype Lys/Glu is associated with an increased risk of colorectal cancer (OR 1.811, 95% Cl 1.031-3.181, p = 0.038). Conclusion. On the basis of these results, we conclude that Exo1 gene polymorphism Lys589Glu may be associated with an increased risk of colorectal cancer.
Źródło:
Polish Journal of Surgery; 2014, 86, 8; 370-373
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The sequence diversity and expression among genes of the folic acid biosynthesis pathway in industrial Saccharomyces strains
Autorzy:
Goncerzewicz, Anna
Misiewicz, Anna
Powiązania:
https://bibliotekanauki.pl/articles/1038930.pdf
Data publikacji:
2015
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
folic acid
Saccharomyces cerevisiae
gene polymorphisms
RT qPCR
Opis:
Folic acid is an important vitamin in human nutrition and its deficiency in pregnant women's diets results in neural tube defects and other neurological damage to the fetus. Additionally, DNA synthesis, cell division and intestinal absorption are inhibited in case of adults. Since this discovery, governments and health organizations worldwide have made recommendations concerning folic acid supplementation of food for women planning to become pregnant. In many countries this has led to the introduction of fortifications, where synthetic folic acid is added to flour. It is known that Saccharomyces strains (brewing and bakers' yeast) are one of the main producers of folic acid and they can be used as a natural source of this vitamin. Proper selection of the most efficient strains may enhance the folate content in bread, fermented vegetables, dairy products and beer by 100% and may be used in the food industry. The objective of this study was to select the optimal producing yeast strain by determining the differences in nucleotide sequences in the FOL2, FOL3 and DFR1 genes of folic acid biosynthesis pathway. The Multitemperature Single Strand Conformation Polymorphism (MSSCP) method and further nucleotide sequencing for selected strains were applied to indicate SNPs in selected gene fragments. The RT qPCR technique was also applied to examine relative expression of the FOL3 gene. Furthermore, this is the first time ever that industrial yeast strains were analysed regarding genes of the folic acid biosynthesis pathway. It was observed that a correlation exists between the folic acid amount produced by industrial yeast strains and changes in the nucleotide sequence of adequate genes. The most significant changes occur in the DFR1 gene, mostly in the first part, which causes major protein structure modifications in KKP 232, KKP 222 and KKP 277 strains. Our study shows that the large amount of SNP contributes to impairment of the selected enzymes and S. cerevisiae and S. pastorianus produce reduced amounts of the investigated metabolite. The results obtained here yield a list of genetically stable yeast strains which can be implemented as a starter culture in the food industry.
Źródło:
Acta Biochimica Polonica; 2015, 62, 4; 841-850
0001-527X
Pojawia się w:
Acta Biochimica Polonica
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:
Dependence of Aerobic Performance of Athletes on Polymorphism of Genes
Autorzy:
Drozdovska, Svitlana B.
Lysenko, Olena M.
Dosenko, Victor E.
Ilyin, Vladimir N.
Powiązania:
https://bibliotekanauki.pl/articles/1055065.pdf
Data publikacji:
2015
Wydawca:
Uniwersytet Szczeciński. Wydawnictwo Naukowe Uniwersytetu Szczecińskiego
Tematy:
aerobic performance
gene polymorphisms
molecular-genetic markers
sport selection
Opis:
The adaptation of an athlete to systematic physical exercise has been shown to be determined by a combination of great many genes. The aim of our study was to investigate the dependence of the aerobic capacity parameters in sport on the set of gene polymorphisms. Cardio-respiratory system (CRS) adaptation reactions to exercise of 72 endurance athletes were assessed using the gas analysis. The analysis of the obtained results has shown both single and combined effect of the gene polymorphisms on the aerobic capacity. The impact of 6 polymorphisms on the aerobic performance level was analyzed: Т–786→С polymorphism of the promoter of еNOS gene as well as АСЕ I/D polymorphism, Рго/Ala polymorphism of PPARG gene, G/C polymorphism of PPARA gene, Pro582Ser polymorphism of HIF1α gene, and Ala203Pro polymorphism of PPARGC1B. It was found that a single impact on the HRmax providing АСЕ I/D polymorphism. Individual influence of АСЕ gene accounts for 2% of this index dissipation. Results showed that there is a dependence between the amount the maximum volume of consumed oxygen (VO2max) from the set of gene polymorphisms. Cumulative impact of these polymorphisms in the combination with the individual parameters (gender; qualification; kind of sport) stipulates 71% of dispersion of VO2max value.
Źródło:
Central European Journal of Sport Sciences and Medicine; 2015, 9, 1; 65-73
2300-9705
2353-2807
Pojawia się w:
Central European Journal of Sport Sciences and Medicine
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:
Genetic factors contributing to the development of inguinal hernias – a narrative review
Autorzy:
Kalali, Datis
Powiązania:
https://bibliotekanauki.pl/articles/40614533.pdf
Data publikacji:
2024-06-30
Wydawca:
Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
Tematy:
genes
genetics
genome-wide association
inguinal hernias
polymorphisms
studies
Opis:
Introduction and aim. Inguinal hernias are one of the major disorders in the field of general and visceral surgery and can be viewed as multifactorial diseases. Although the molecular mechanism that led to predistortion to inguinal herniation still remain unclear, is well known that defects leading to improper closure of the inguinal canal during fetal development and mechanisms contributing to weaker muscles of the abdominal wall can greatly increase the risk of developing the latter disease. Material and methods. A literature search was performed in all major electronic databases using keywords and Boolean operators to retrieve all available literature related to the topic. Due to the narrative nature of the review, there were no specific inclusion and exclusion criteria. Analysis of the literature. Genetic factors, undoubtedly, can interfere with these mechanisms and therefore play major role in developing hernias. To this end, the present narrative review provides an overview of genes with altered expression and genetic polymorphisms associated with inguinal herniation. Moreover, the results of genome-wide association studies (GWAS) exploring susceptible genetic loci associated with the disease have been reported. Conclusion. Nevertheless, more case-control studies and GWAS need to be conducted in different ethnic populations so as to provide better insights into the topic.
Źródło:
European Journal of Clinical and Experimental Medicine; 2024, 22, 2; 417-423
2544-2406
2544-1361
Pojawia się w:
European Journal of Clinical and Experimental Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3 UTR, and their association with clinical course of melanoma
Autorzy:
Lamperska, Katarzyna
Przybyła, Anna
Kycler, Witold
Mackiewicz, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/1041123.pdf
Data publikacji:
2007
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
melanoma
statistical analysis
CDKN2a polymorphisms
3' UTR
Opis:
Changes in CDKN2a gene are known to be linked with sporadic melanoma and hereditary predisposition to this cancer. In the Polish population mutations in the coding region of the CDKN2a gene are rather rare, therefore the attention has been focused on polymorphisms and alterations in uncoding regions such as 3' UTR. The aim of this study was to analyze two common polymorphisms, Ala148Thr and 500 C/G, and correlate them with the clinical course of melanoma. DNA from 285 patients was analyzed and found polymorphisms were correlated with the clinical parameters employing statistical methods. The obtained results allow us to conclude: (i) survival times of 500 C/G carriers vs. cumulating proportion surviving was not statistically significant; (ii) CDKN2a polymorphism 500 C/G correlated with Ala148Thr; (iii) no correlation was observed between the 500 C/G polymorphism and age of diagnosis, localization of primary melanoma and survival time; (iv) we did not find correlation between 500 C/G and type of cancer in the family; (v) changes in the CDKN2a gene were not found in patients with second cancer.
Źródło:
Acta Biochimica Polonica; 2007, 54, 1; 119-124
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Adiponektyna oraz polimorfizmy genu apM1 a występowanie nadwagi i otyłości u pacjentów zgłaszających się do poradni ogólnej POZ
Adiponectin and polymorphism of gene apM1 and prevalence of overweight/obese patients treated in general practice clinics
Autorzy:
Gola, Mateusz
Grzeszczak, Władysław
Powiązania:
https://bibliotekanauki.pl/articles/1039176.pdf
Data publikacji:
2012
Wydawca:
Śląski Uniwersytet Medyczny w Katowicach
Tematy:
otyłość
nadwaga
adiponektyna
apm1
polimorfizmy
obesity
overweight
adiponectin
polymorphisms
Opis:
AIM The primary objective of the study, which is the basis of this thesis, was to evaluate the potential association between selected apM1 polymorphisms and the plasmatic concentrations of adiponectin and the incidence of overweight and obesity in the population of patients visiting general outpatient clinics of primary medical care. MATERIAL AND METHODS The reported study comprised a total of 510 adult patients (287 men and 223 women) from the region of southern Poland, who had subsequently sought medical counselling at a general outpatient clinic of primary care. The examined subjects were divided into three (3) groups, following waist circumference values. The control group consisted of patients with a waist circumference <94 cm for men and <80 cm for women. All the subjects had fasting serum concentrations of glucose, insulin, total cholesterol, HDL/LDL fractions, triglycerides, creatinine and adiponectin and genotyping of Y111H (rs17366743), +45 T>G (rs2241766) and +276 G>T (rs1501299) polymorphisms of the adiponectin gene. RESULTS The serum glucose and insulin concentrations in the overweight and obese subjects were statistically signifi cantly higher vs. those in the control group (p < 0.001). The serum adiponectin concentrations in the obese patients were signifi cantly lower vs. those in the overweight subjects (p < 0.001) or those without any excess weight (p < 0.001). Signifi cantly higher values of the HOMA-IR factor were found in both the obese and the overweight patients (p for correlation between either group < 0.01). A strong correlation was observed between the waist circumference and adiponectin levels. It was demonstrated that the adiponectin concentration in the blood decreased with a waist circumference increase (p < 0.001). A similarly strong correlation was noted between the adiponectin levels and BMI (body mass index) values (p < 0.001). The MAF values for the Y111H, +45 T/G and +276 G/T polymorphisms were 0.017, 0.098 and 0.287, respectively. No statistically signifi cant diff erences were demonstrated in the distribution of genotypes between the studied groups for the apM1 Y111H (chi2 = 2.61; p = 0.2706), apM1 +45 T/G (chi2 = 2.10; p = 0.7179) and apM1 +276 G/T (chi2 = 7.93; p = 0.0941) polymorphisms. However, statistically signifi cant diff erences were visualised in the distribution of alleles for the apM1 +276 G/T (chi2 = 6.10; p < 0.05) polymorphism. CONCLUSIONS The results of the reported study confi rm the existence of a strong, negative correlation between the adiponectin levels in the blood and waist circumference or BMI values, also described in a number of literature reports. 2. The apM1 Y111H, +45 T/G and +276 G/T polymorphisms, and in particular the fi rst one, are very rarely found in the Polish population. 3. No correlation was demonstrated between the studied polymorphisms and the incidence of overweight and obesity and serum adiponectin concentration. 4. In the population of subjects with an average GFR = 81.53 ml/min/1.73 m2, the adiponectin concentration positively correlates with glomerular fi ltration values.
CEL PRACY Głównym celem niniejszej pracy była ocena potencjalnego związku między wybranymi polimorfizmami genu apM1 oraz osoczowym stężeniem adiponektyny a występowaniem nadwagi i otyłości w populacji pacjentów zgłaszających się do poradni ogólnej podstawowej opieki zdrowotnej (POZ). MATERIAŁ I METODY Badaniem objęto łącznie 510 dorosłych pacjentów (287 mężczyzn i 223 kobiety) z rejonu Polski Południowej, którzy kolejno zgłaszali się do poradni ogólnej POZ. Badanych podzielono na 3 grupy, zależnie od wartości obwodu pasa. Grupę kontrolną stanowili pacjenci z obwodem talii < 94 cm (mężczyźni) oraz < 80 cm (kobiety). U wszystkich osób oznaczano na czczo w surowicy stężenia glukozy, insuliny, cholesterolu całkowitego, frakcji HDL i LDL, triglicerydów, kreatyniny oraz adiponektyny oraz określono polimorfizmy Y111H (rs17366743), +45 T > G (rs2241766) oraz +276 G > T (rs1501299) genu adiponektyny. WYNIKI W surowicy osób z nadwagą i otyłych stwierdzono istotnie statystycznie wyższe stężenia glukozy i insuliny w stosunku do osób z grupy kontrolnej (p < 0,001). Stężenia adiponektyny w surowicy pacjentów otyłych były istotnie niższe niż u osób z nadwagą (p < 0,001) oraz bez nadwagi (p < 0,001). Zarówno u osób otyłych, jak i z nadwagą stwierdzono znamiennie wyższe wartości wskaźnika insulinooporności HOMA-IR (p dla korelacji pomiędzy każdą z grup < 0,01). Wykazano, że stężenie adiponektyny we krwi maleje wraz ze wzrostem obwodu talii (p < 0,001). Podobnie silną korelację odnotowano między poziomem adiponektyny a wartościami wskaźnika BMI (p < 0,001). Wartości MAF dla polimorfizmów Y111H, +45 T/G oraz +276 G/T wynosiły odpowiednio: 0,017, 0,098 oraz 0,287. Nie wykazano istotnych statystycznie różnic w rozkładzie badanych genotypów między badanymi grupami dla polimorfizmu apM1 Y111H (chi2 = 2,61; p = 0,2706), apM1 +45 T/G (chi2 = 2,10; p = 0,7179) oraz apM1 +276 G/T (chi2 = 7,93; p = 0,0941). Uwidoczniono jednak istotne statystycznie różnice w rozkładzie alleli dla polimorfizmu apM1 +276 G/T (chi2 = 6,10; p < 0,05). Rozkład alleli i genotypów dla polimorfizmów Y111H oraz +45 T/G nie pozwalał na przeprowadzenie wiarygodnych analiz statystycznych. WNIOSKI 1. U badanych z nadwagą i otyłością występuje ujemna korelacja między obwodem talii a stężeniem adiponektyny. 2. Wykazano jednak istotne statystycznie różnice w rozkładzie alleli dla polimorfizmu apM1 +276 G/T pomiędzy badanymi grupami. 3. Nie wykazano zależności pomiędzy występowaniem poszczególnych polimorfizmów a stężeniem adiponektyny w surowicy. 4. Stężenie adiponektyny we krwi koreluje ujemnie z insulinemią i insulinoopornością oraz dodatnio z wielkością filtracji kłębuszkowej.
Źródło:
Annales Academiae Medicae Silesiensis; 2012, 66, 6; 27-36
1734-025X
Pojawia się w:
Annales Academiae Medicae Silesiensis
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
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