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Type 2 diabetes susceptibility single-nucleotide polymorphisms are not associated with polycystic ovary syndrome.

ABSTRACT: Two cohorts of women with polycystic ovary syndrome (PCOS), comprising 400 probands and affected sisters in 365 families and a case-control group including 395 women with PCOS and 171 healthy women with regular menstrual cycles, were studied to determine whether single-nucleotide polymorphisms (SNPs) identified as susceptibility loci in genomewide association studies of type 2 diabetes are also associated with PCOS. None of the 18 allelic variants in 10 genes previously shown to be associated with type 2 diabetes were found to be associated with PCOS, but some were associated with indices of beta cell function.

SUBMITTER: Ewens KG

PROVIDER: S-EPMC3124609 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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Type 2 diabetes susceptibility single-nucleotide polymorphisms are not associated with polycystic ovary syndrome.

Ewens Kathryn G KG Jones Michelle R MR Ankener Wendy W Stewart Douglas R DR Urbanek Margrit M Dunaif Andrea A Legro Richard S RS Chua Angela A Azziz Ricardo R Spielman Richard S RS Goodarzi Mark O MO Strauss Jerome F JF

Fertility and sterility 20110327 8

Two cohorts of women with polycystic ovary syndrome (PCOS), comprising 400 probands and affected sisters in 365 families and a case-control group including 395 women with PCOS and 171 healthy women with regular menstrual cycles, were studied to determine whether single-nucleotide polymorphisms (SNPs) identified as susceptibility loci in genomewide association studies of type 2 diabetes are also associated with PCOS. None of the 18 allelic variants in 10 genes previously shown to be associated wi ...[more]

PMID: 21444075

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Single nucleotide polymorphisms in the TGF-β1 gene are associated with polycystic ovary syndrome susceptibility and characteristics: a study in Korean women.

Project description:PurposeAlthough many hypotheses regarding the pathogenesis of polycystic ovary syndrome (PCOS) have been generated, genetic studies have not identified specific genes that play a role in PCOS etiopathogenesis. This study aimed to investigate the relationship between TGF-β1 gene polymorphism and PCOS in Koreans.MethodA total of 51 Korean women with PCOS and 69 healthy women were enrolled. We analyzed 4 single nucleotide polymorphisms (SNPs) of the TGF-β1 gene (rs11466313, rs1800469, rs2317130, and rs4803457). We also analyzed laboratory measurements, such as free testosterone, glucose, and cholesterol.ResultsThe frequencies of rs1800469T allele negativity, rs4803457T allele negativity, the rs1800469CC genotype, and the rs4803457CC genotype showed positive associations with PCOS (P = 0.003, P = 0.027, P = 0.009, and P=0.031, respectively), whereas the haplotypes rs1800469C-rs4803457T and rs1800469T-rs4803457T showed negative associations with PCOS. A strong protective effect of the "rs1800469CT-rs4803457TT" combination (OR = 0.09) and a strong risk effect of "rs1800469CC-rs4803457CC" (OR = 6.23) for PCOS were observed. The rs1800469C/T and rs2317130C/T SNPs exhibited associations with several laboratory measurements with various levels of significance.ConclusionThe results demonstrated an association of TGF-β1 gene polymorphisms with the development and/or characteristics of PCOS in the Korean population.

| S-EPMC5330979 | biostudies-literature

Association between single nucleotide polymorphisms, TGF-β1 promoter methylation, and polycystic ovary syndrome.

Project description:BackgroundPolycystic ovarian syndrome (PCOS) is a common endocrine and metabolic disease in women. Hyperandrogenaemia (HA) and insulin resistance (IR) are the basic pathophysiological characteristics of PCOS. The aetiology of PCOS has not been fully identified and is generally believed to be related to the combined effects of genetic, metabolic, internal, and external factors. Current studies have not screened for PCOS susceptibility genes in a large population. Here, we aimed to study the effect of TGF-β1 methylation on the clinical PCOS phenotype.MethodsIn this study, three generations of family members with PCOS with IR as the main characteristic were selected as research subjects. Through whole exome sequencing and bioinformatic analysis, TGF-β1 was screened as the PCOS susceptibility gene in this family. The epigenetic DNA methylation level of TGF-β1 in peripheral blood was detected by heavy sulfite sequencing in patients with PCOS clinically characterised by IR, and the correlation between the DNA methylation level of the TGF-β1 gene and IR was analysed. We explored whether the degree of methylation of this gene affects IR and whether it participates in the occurrence and development of PCOS.ResultsThe results of this study suggest that the hypomethylation of the CpG4 and CpG7 sites in the TGF-β1 gene promoter may be involved in the pathogenesis of PCOS IR by affecting the expression of the TGF-β1 gene.ConclusionsThis study provides new insights into the aetiology and pathogenesis of PCOS.

| S-EPMC10759533 | biostudies-literature

Association of single-nucleotide polymorphisms rs2197076 and rs2241883 of FABP1 gene with polycystic ovary syndrome.

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| S-EPMC4717138 | biostudies-literature

Relationship of PD-1 (PDCD1) and PD-L1 (CD274) Single Nucleotide Polymorphisms with Polycystic Ovary Syndrome.

Project description:This study is to investigate the relationship of programmed cell death 1 (PD-1; also known as PDCD1) and programmed death-1-ligand 1 (PD-L1; also known as CD274) single nucleotide polymorphisms (SNPs) with polycystic ovary syndrome (PCOS). This study enrolled 330 PCOS patients and 350 matched controls. ELISA was used to detect the PD-1 and PD-L1 levels in serum. SnaPshot genotyping was performed to analyze the PD-1 and PD-L1 genotyping. Linkage disequilibrium and haplotype of TagSNP loci of PD-1 and PD-L1 genes were also detected. The relationship of genotypes and alleles with PCOS was analyzed. The levels of PD-1 and PD-L1 in the serum of PCOS patients were significantly lower than those in the control group (P < 0.01). The haplotype TT of PD-1 gene at rs10204525 and rs7421861 loci was significantly lower in the PCOS group than in the control group (P < 0.001, OR = 0.67, and 95%CI = 0.54-0.84). PD-L1 gene SNP loci rs2282055, rs2890658, rs10125854, and rs702275 had linkage disequilibrium. The haplotypes TAAA, GAAC, GAGC, GCAA, and TCGA of PD-L1 gene SNP loci were significantly higher in PCOS patients than in the control group, whereas haplotypes GAAA, TAAC, TCAA, GCGA, GCAC, and TCGC of PD-L1 gene SNP loci were significantly lower in PCOS patients than in the control group. PD-1 and PD-L1 SNPs may be related to the pathogenesis of PCOS. PD-1 gene SNP loci rs10204525 and rs7421861 and PD-L1 gene SNP loci rs2282055, rs2890658, rs10125854, and rs702275 may be new candidate polymorphic loci for PCOS.

| S-EPMC7817229 | biostudies-literature

Association between long-chain non-coding RNA SRA1 gene single-nucleotide polymorphism and polycystic ovary syndrome susceptibility.

Project description:ObjectiveTo study the association between single-nucleotide polymorphism (SNP) of long-chain non-coding RNA steroid receptor RNA activator (lncRNA SRA1) gene and polycystic ovary syndrome (PCOS) susceptibility.MethodsSanger sequencing was used to analyze the genotypes of the lncRNA SRA1 gene rs801460, rs10463297, and rs250426 in 315 PCOS patients and 315 control groups.ResultsThere was no correlation between lncRNA SRA1 gene rs801460, rs250426 SNP, and PCOS susceptibility (p > 0.05). The T allele at the rs10463297 locus of the SRA1 gene has a lower risk of PCOS than the C allele (OR = 0.63, 95%CI: 0.50-0.79, p < 0.01). Among people with a BMI ≥ 26.5 kg/m2, when carrying the TC genotype and CC genotype at rs801460, the risk of PCOS susceptibility was lower than the TT genotype (OR = 0.54, 95%CI: 0.33-0.89, p = 0.02). At different ages and BMI stratifications, there was a significant association between rs10463297 SNP and PCOS susceptibility (p < 0.05). Multi-factor dimensionality reduction (MDR) analysis results showed that age, BMI, rs801460, rs10463297, and rs250426 interactions constitute a "high-risk combination." PCOS susceptibility risk was 5.96 times that of a "low-risk combination" (95%CI: 4.14-8.56, p < 0.01). SRA1 gene rs801460, rs10463297, rs250426 constructed TCT haplotype was associated with increased risk of PCOS susceptibility (OR = 1.66, 95%CI: 1.20-2.30, p < 0.01); the CTT haplotype was associated with a decreased risk of PCOS susceptibility (OR = 0.56, 95%CI: 0.36-0.87, p = 0.01). LncRNA SRA1 gene rs10463297 SNP was correlated with the level of lncRNA SRA1 in the peripheral blood leukocytes (p < 0.01).ConclusionFrom this study, we found that the lncRNA SRA1 gene rs10463297 SNP is associated with PCOS susceptibility.

| S-EPMC7550517 | biostudies-literature

Association of rs13429458 and rs12478601 Single Nucleotide Polymorphisms of <i>THADA</i> Gene with Polycystic Ovary Syndrome.

Project description:BackgroundIt is thought that genetic factors are influential in the etiology of polycystic ovarian syndrome (PCOS), the most frequent endocrinological disorder of females in their reproductive age. This study was carried out to elucidate the association of rs13429458 and rs12478601 single nucleotide polymorphisms (SNPs) of the THADA gene and the risk of the PCOS among a population of Iranian female patients.Materials and methodsThis case-control study contains 66 infertile women with PCOS (patient group) and 44 healthy women without PCOS (control group) that referred to the IVF Unit of the Infertility Research Center of the Academic Center for Education, Culture and Research (ACECR). The polymerase chain reaction (PCR) was utilized to amplify genome DNA as well as direct sequencing to determine SNPs. The THADA rs12478601 and rs13429458 genotypes were consequently examined with amplification refractory mutation system-PCR (ARMS-PCR).ResultsIn this study, we observed that rs13429458 polymorphism was not associated with PCOS risk in two groups (P=0.42). On the other hand, data analysis indicated that the rs12478601 genotype significantly increased the risk of PCOS in the case group (P=0.032) in compared with control group. We found that the "T" allele of rs12478601 in the THADA gene had a significant relation to PCOS in the case group (odds ratio [OR]: 2.574, 95% confidence interval [CI]: 1.439-4.604, P=0.001).ConclusionThis study has presented further evidence that TT and CT genotype of THADA rs12478601 is associated with a high risk of PCOS.

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Catechol-O-methyltransferase (COMT) single nucleotide polymorphisms and haplotypes are not major risk factors for polycystic ovary syndrome.

Project description:Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects 5-8% of reproductive age women. The primary features of PCOS are hyperandrogenemia, chronic anovulation and infertility. It has been suggested that defects in ovarian steroid metabolism contribute to the follicular growth arrest and abnormal production of ovarian steroid hormones that are characteristic of PCOS. 2-Methoxyestradiol (2-ME) is formed by the action of catechol-O-methyltransferase (COMT) on 2-hydroxyestradiol. COMT expression is increased in the follicles and ovarian stroma of women with PCOS. Moreover, 2-ME decreases granulosa cell proliferation and steroidogenesis, raising the possibility that ovarian dysfunction associated with PCOS is due, in part, to increased synthesis of 2-ME resulting from increased COMT activity. Four single-nucleotide polymorphisms (SNPs) (rs6269, rs4633, rs4818, rs4680) in the COMT gene characterize haplotypes, which are associated with large variations in COMT enzymatic activity. The aim of this study was to determine whether individual COMT SNPs and the COMT haplotypes are associated with PCOS using a family-based test of association and linkage. Additionally, we examined the relationships between COMT SNPs and haplotypes with quantitative variables usually assessed in the evaluation of women with PCOS. There were no significant correlations between genotype and total testosterone, non-SHBG bound testosterone and BMI. However, we found that the prolactin level in women with PCOS varied significantly with COMT haplotype, and suggest that this association reflects a genetic factor influencing the stress response. Our findings suggest that common variants and haplotypes of the COMT gene are not major contributors to risk for PCOS, but that COMT genotype may influence prolactin levels.

| S-EPMC3264817 | biostudies-literature

Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.

Project description:BackgroundTwo polymorphisms, rs6165 and rs6166 located in the intracellular domain of FSHR has been reported to affect folliculogenesis, steroidogenesis and oocyte maturation. Several studies have highlighted the role of FSHR polymorphisms in PCOS but the findings are conflicting. A meta-analysis was carried out to decipher the emerging perspectives.MethodologyA comprehensive literature search was made using PubMed, PCOSkb, and Google Scholar. New Ottawa Scale has been utilized to evaluate the quality of each article. To evaluate the strength of association under different genetic models of rs6165 and rs6166 polymorphisms, odds ratio with a 95% confidence interval (CI) was calculated.ResultsA total of 20 articles were selected for the present study. In pooled analysis and after the stratification by ethnicity, polymorphism rs6165 remains unrelated to the onset of PCOS. Besides, rs6166 exhibits significant protection in the Indian population under recessive, additive, and allele models (OR = 0.7, CI: 0.54-0.9, p = 0.006, OR = 0.65, CI: 0.48-0.89, p = 0.006, OR = 0.82, CI: 0.7-0.95, p = 0.01, respectively) and low to moderate risk in the Caucasian population under allele model (OR = 1.17, CI: 1.04-1.32, p = 0.01).ConclusionThis meta-analysis suggests that GG genotype of rs6166 provides protection against PCOS, in a population-specific manner.

| S-EPMC10472705 | biostudies-literature

Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract.

Project description:PURPOSE: Type 2 diabetes (T2D) is highly prevalent worldwide and cataracts are of high incidence in T2D patients. In this study, we identify genetic variants that predispose type 2 diabetes (T2D) patients to cataracts in the Han-Chinese residing in Taiwan. METHODS: We conducted a genome-wide association study with a total of 1,715 cases and 2,000 random controls. In the haplotype study, we defined haplotype 1 (Ht 1) to haplotype 4 (Ht 4) as the alternative alleles of the DM and cataract related chromosome 3p14.1- 3p14.2 polymorphisms. RESULTS: The most significant association was detected with rs11129182, rs17047573, and rs17047586 in chromosome 3p14.1- 3p14.2 (p value=3.52x10(-7), 8.35x10(-8), and 7.65x10(-8), respectively). In genotype analysis, the "CT" genotype of rs11129182, the 'GG' genotype of rs17047573, and the 'GG' genotype of rs17047586 were significantly different in the T2D and cataract groups (OR=3.03, 7.47, and 7.51, individually; 95% confidence index (CI): 1.97-4.65, 3.36-16.6, and 3.38-16.7, individually). In the haplotype study, the distribution of the Ht3 and Ht4 between the DM and cataract group and the control group differed significantly between the two groups (p=0.0004). The odds ratio (OR) of Ht4 was 1.89 and the 95% confidence interval (CI) was 1.36-2.65. CONCLUSIONS: The major functions of the genes are voltage-dependent anion-selective channel proteins, long myosin light chain kinase, adenylyl cyclase-associated proteins and retinoic acid receptors and are all closely related with the pathogenesis of T2D and cataractogenesis. This has helped us understand the pathogenesis of T2D patients with cataracts.

| S-EPMC2901187 | biostudies-literature

Potential genetic polymorphisms predicting polycystic ovary syndrome.

Project description:Polycystic ovary syndrome (PCOS) is a heterogenous endocrine disorder with typical symptoms of oligomenorrhoea, hyperandrogenism, hirsutism, obesity, insulin resistance and increased risk of type 2 diabetes mellitus. Extensive evidence indicates that PCOS is a genetic disease and numerous biochemical pathways have been linked with its pathogenesis. A number of genes from these pathways have been investigated, which include those involved with steroid hormone biosynthesis and metabolism, action of gonadotropin and gonadal hormones, folliculogenesis, obesity and energy regulation, insulin secretion and action and many others. In this review, we summarize the historical and recent findings in genetic polymorphisms of PCOS from the relevant publications and outline some genetic polymorphisms that are potentially associated with the risk of PCOS. This information could uncover candidate genes associating with PCOS, which will be valuable for the development of novel diagnostic and treatment platforms for PCOS patients.

| S-EPMC5937197 | biostudies-literature

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