All Snps(Total Genotypes:91) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs10407022 | 18230658 | 268 | AMH | umls:C0029928 | BeFree | However, our results suggest that the AMH Ile(49)Ser polymorphism contributes to the severity of the PCOS phenotype. | 0.002442977 | 2008 | AMH;MIR4321 | 19 | 2249478 | G | T |
| rs1042714 | 16779985 | 154 | ADRB2 | umls:C0029928 | BeFree | The polymorphism in codon 27 (Gln27Glu) of BAR-2 is linked to the expression of PCOS in Japanese women. | 0.000542884 | 2006 | ADRB2 | 5 | 148826910 | G | C,T |
| rs1048943 | 23848208 | 1543 | CYP1A1 | umls:C0029928 | BeFree | However, further studies are still needed to accurately determine whether the CYP1A1 rs1048943 (A>G) polymorphism is associated with PCOS risk. | 0.001085767 | 2014 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1061622 | 12161545 | 7133 | TNFRSF1B | umls:C0029928 | BeFree | In conclusion, the M196R (676 T-->G) variant in exon 6 of TNFRSF1B is associated with hyperandrogenism and PCOS, further suggesting a role for inflammatory cytokines in the pathogenesis of these disorders. | 0.000271442 | 2002 | TNFRSF1B | 1 | 12192898 | T | G |
| rs10818854 | 22547425 | 28462 | IGHV1-68 | umls:C0029928 | BeFree | Two strongly correlated Han Chinese PCOS risk variants on chromosome 9q33.3, rs10986105[C], and rs10818854[A], were replicated in samples of European ancestry with odds ratio of 1.68 (P = 0.00033) and odds ratio of 1.53 (P = 0.0019), respectively. | 0.000271442 | 2012 | DENND1A | 9 | 123684499 | G | A |
| rs10818854 | 23208300 | 3973 | LHCGR | umls:C0029928 | BeFree | In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS. | 0.000542884 | 2013 | DENND1A | 9 | 123684499 | G | A |
| rs10830963 | 20959387 | 4544 | MTNR1B | umls:C0029928 | BeFree | The present study suggest that the SNP, rs10830963, in the MTNR1B gene is not only associated with susceptibility to PCOS, but also contributes to the PCOS phenotype. | 0.000271442 | 2011 | MTNR1B | 11 | 92975544 | C | G |
| rs10859871 | 25678572 | 55591 | VEZT | umls:C0029928 | BeFree | SNP rs10859871 near the vezatin (VEZT) gene was found to be significantly associated with endometriosis in general while SNPs rs17694933 and rs4141819 were associated with Stage III/IV and ovarian disease, respectively. | 0.000271442 | 2015 | NA | 12 | 95318100 | A | C |
| rs10986105 | 22547425 | 28462 | IGHV1-68 | umls:C0029928 | BeFree | Two strongly correlated Han Chinese PCOS risk variants on chromosome 9q33.3, rs10986105[C], and rs10818854[A], were replicated in samples of European ancestry with odds ratio of 1.68 (P = 0.00033) and odds ratio of 1.53 (P = 0.0019), respectively. | 0.000271442 | 2012 | DENND1A | 9 | 123787676 | T | G |
| rs11196236 | 22301903 | 6934 | TCF7L2 | umls:C0029928 | BeFree | We conclude that rs11196236 G TCF7L2 variant is associated with peripheral insulin resistance in PCOS but this effect is not seen in control women. | 0.002714419 | 2012 | TCF7L2 | 10 | 113127963 | T | C |
| rs11575937 | 18728124 | 4000 | LMNA | umls:C0029928 | BeFree | Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene, establishing the definitive diagnosis as Dunnigan-type familial partial lipodystrophy complicated by severe insulin resistance and secondary PCOS. | 0.000814326 | 2008 | LMNA | 1 | 156136985 | G | A,T |
| rs12086634 | 16551740 | 3290 | HSD11B1 | umls:C0029928 | BeFree | Our objective was to investigate a functional polymorphism in HSD11B1 (T-->G in the third intron rs12086634, which associates with lower 11beta-HSD1 activity) in PCOS with and without obesity. | 0.001085767 | 2006 | HSD11B1;LOC101930114 | 1 | 209706914 | T | G |
| rs12473543 | 23375202 | 6715 | SRD5A1 | umls:C0029928 | BeFree | Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS. | 0.001085767 | 2013 | POMC | 2 | 25164312 | T | G |
| rs12478601 | 23208300 | 3973 | LHCGR | umls:C0029928 | BeFree | In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS. | 0.000542884 | 2013 | THADA | 2 | 43494369 | C | T |
| rs13405728 | 23208300 | 3973 | LHCGR | umls:C0029928 | BeFree | In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS. | 0.000542884 | 2013 | LHCGR;STON1-GTF2A1L | 2 | 48751020 | A | G |
| rs13429458 | 22081247 | 63892 | THADA | umls:C0029928 | BeFree | TDT confirms that SNP rs13429458, in the THADA gene, is significantly associated with risk of PCOS. | 0.001085767 | 2012 | THADA | 2 | 43411699 | A | C |
| rs13429458 | 23208300 | 3973 | LHCGR | umls:C0029928 | BeFree | In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS. | 0.000542884 | 2013 | THADA | 2 | 43411699 | A | C |
| rs1421085 | 18572014 | 79068 | FTO | umls:C0029928 | BeFree | To understand the role of the FTO gene in polycystic ovary syndrome (PCOS) we genotyped single nucleotide polymorphism (SNP) rs1421085 (C/T) in women with PCOS (n=207) and controls (n=100) from a Central European population. | 0.002985861 | 2008 | FTO | 16 | 53767042 | T | C |
| rs1501299 | 23375202 | 6715 | SRD5A1 | umls:C0029928 | BeFree | Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS. | 0.001085767 | 2013 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs1539355 | 24335000 | 51094 | ADIPOR1 | umls:C0029928 | BeFree | SNP rs1539355 in the ADIPOR1 gene is associated with insulin resistance in Chinese PCOS patients. | 0.000271442 | 2013 | ADIPOR1 | 1 | 202954952 | A | G |
| rs17694933 | 25678572 | 55591 | VEZT | umls:C0029928 | BeFree | SNP rs10859871 near the vezatin (VEZT) gene was found to be significantly associated with endometriosis in general while SNPs rs17694933 and rs4141819 were associated with Stage III/IV and ovarian disease, respectively. | 0.000271442 | 2015 | NA | 9 | 22164310 | G | A |
| rs1799941 | 21252242 | 6462 | SHBG | umls:C0029928 | BeFree | Although SHBG SNPs associated with type 2 diabetes mellitus do not appear to be associated with PCOS status, rs1799941 and rs727428 genotypes are associated with SHBG levels independent of the effects of insulin resistance and obesity. | 0.005700279 | 2011 | SHBG | 17 | 7630105 | G | A |
| rs1801278 | 22523112 | 3667 | IRS1 | umls:C0029928 | BeFree | Our meta-analysis suggested that IRS-1 Gly972Arg polymorphism might be considered a significant risk for PCOS. | 0.003257302 | 2012 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 19926323 | 3667 | IRS1 | umls:C0029928 | BeFree | These results suggest that IRS-1 Gly972Arg polymorphism is significantly associated with the risk of developing PCOS and that this association is primarily mediated by increasing the levels of fasting insulin. | 0.003257302 | 2010 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 19926323 | 3630 | INS | umls:C0029928 | BeFree | These results suggest that IRS-1 Gly972Arg polymorphism is significantly associated with the risk of developing PCOS and that this association is primarily mediated by increasing the levels of fasting insulin. | 0.019815257 | 2010 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 18222120 | 3667 | IRS1 | umls:C0029928 | BeFree | Our data do not support an association between G972R variant of the IRS-1 with PCOS or its metabolic parameters in Southern Chilean women. | 0.003257302 | 2008 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 17719609 | 5167 | ENPP1 | umls:C0029928 | BeFree | We hypothesized that insulin receptor substrate-1 (IRS-1) Gly972Arg polymorphism and/or ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Lys121Gln polymorphism predisposes women to PCOS and that these polymorphisms also affect anthropometric variables, glucose metabolism and androgen synthesis. | 0.000542884 | 2007 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 17719609 | 3667 | IRS1 | umls:C0029928 | BeFree | We conclude that the IRS-1 Gly972Arg polymorphism is associated with PCOS in the Japanese population. | 0.003257302 | 2007 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 20229450 | 3667 | IRS1 | umls:C0029928 | BeFree | The IRS-1 Gly972Arg has the highest frequency reported world-wide for PCOS women. | 0.003257302 | 2010 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801282 | 14671186 | 5468 | PPARG | umls:C0029928 | BeFree | In conclusion, the higher frequency of the C-->T substitution in exon 6 of the PPAR-gamma gene in PCOS women suggests that it plays a role in the complex pathogenetic mechanism of obesity in PCOS, whereas the Pro(12)Ala polymorphism does not seem to affect BMI in PCOS women. | 0.004071628 | 2003 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 15472214 | 5468 | PPARG | umls:C0029928 | BeFree | In conclusion, our results confirm that adiponectin concentrations are similar in PCOS and controls and demonstrate no effect of the PPAR-gamma gene Pro12Ala polymorphism on serum adiponectin levels. | 0.004071628 | 2004 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 11836319 | 5468 | PPARG | umls:C0029928 | BeFree | In the present study we have examined the relationship of the Pro(12)Ala polymorphism in the PPARgamma gene (PPARG) to clinical and hormonal features of PCOS. | 0.004071628 | 2002 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16600233 | 5468 | PPARG | umls:C0029928 | BeFree | We did not find statistically significant differences with peroxisome proliferator-activated receptor-gamma2 Pro12Ala and peroxisome proliferator-activated receptor-gamma-1alpha Gly482Ser polymorphism distributions between Chinese women with PCOS and controls, or with body mass index and reproductive hormones among various genotypic groups of PCOS, suggesting that these genetic mutants did not have an effect on the susceptibility to PCOS. | 0.004071628 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16316841 | 5468 | PPARG | umls:C0029928 | BeFree | Our findings suggest that Pro12Ala PPAR-gamma gene polymorphism may be protective against IR and might prevent the development of diabetes mellitus in the first-degree relatives of subjects with PCOS. | 0.004071628 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 15853827 | 5468 | PPARG | umls:C0029928 | BeFree | The Pro12Ala polymorphism of the PPARgamma gene is associated with increased insulin sensitivity and lower hirsutism scores in PCOS women. | 0.004071628 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16316841 | 3630 | INS | umls:C0029928 | BeFree | Compared with first-degree relatives of PCOS subjects with the Pro12Pro polymorphism of PPAR-gamma, first-degree relatives of PCOS subjects with the Pro12Ala polymorphism had low fasting insulin, HOMA-IR and AUC insulin levels. | 0.019815257 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16785159 | 5468 | PPARG | umls:C0029928 | BeFree | We suggest that Pro12Ala polymorphism of the PPAR-gamma gene may be a modifier of insulin resistance in women with PCOS. | 0.004071628 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 19549442 | 5468 | PPARG | umls:C0029928 | BeFree | This study has shown that both Pro12Ala and His447His polymorphisms of PPAR-gamma are associated with PCOS in a Korean population. | 0.004071628 | 2009 | PPARG | 3 | 12351626 | C | G |
| rs1805097 | 12213887 | 8660 | IRS2 | umls:C0029928 | BeFree | These results suggest that the IRS-2 Gly(1057)Asp polymorphism influences blood glucose levels in nondiabetic white and African-American women with PCOS. | 0.002442977 | 2002 | IRS2 | 13 | 109782884 | C | T |
| rs1805192 | 11836319 | 5468 | PPARG | umls:C0029928 | BeFree | In the present study we have examined the relationship of the Pro(12)Ala polymorphism in the PPARgamma gene (PPARG) to clinical and hormonal features of PCOS. | 0.004071628 | 2002 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 15853827 | 5468 | PPARG | umls:C0029928 | BeFree | The Pro12Ala polymorphism of the PPARgamma gene is associated with increased insulin sensitivity and lower hirsutism scores in PCOS women. | 0.004071628 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16600233 | 5468 | PPARG | umls:C0029928 | BeFree | We did not find statistically significant differences with peroxisome proliferator-activated receptor-gamma2 Pro12Ala and peroxisome proliferator-activated receptor-gamma-1alpha Gly482Ser polymorphism distributions between Chinese women with PCOS and controls, or with body mass index and reproductive hormones among various genotypic groups of PCOS, suggesting that these genetic mutants did not have an effect on the susceptibility to PCOS. | 0.004071628 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 19549442 | 5468 | PPARG | umls:C0029928 | BeFree | This study has shown that both Pro12Ala and His447His polymorphisms of PPAR-gamma are associated with PCOS in a Korean population. | 0.004071628 | 2009 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 15472214 | 5468 | PPARG | umls:C0029928 | BeFree | In conclusion, our results confirm that adiponectin concentrations are similar in PCOS and controls and demonstrate no effect of the PPAR-gamma gene Pro12Ala polymorphism on serum adiponectin levels. | 0.004071628 | 2004 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 14671186 | 5468 | PPARG | umls:C0029928 | BeFree | In conclusion, the higher frequency of the C-->T substitution in exon 6 of the PPAR-gamma gene in PCOS women suggests that it plays a role in the complex pathogenetic mechanism of obesity in PCOS, whereas the Pro(12)Ala polymorphism does not seem to affect BMI in PCOS women. | 0.004071628 | 2003 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16785159 | 5468 | PPARG | umls:C0029928 | BeFree | We suggest that Pro12Ala polymorphism of the PPAR-gamma gene may be a modifier of insulin resistance in women with PCOS. | 0.004071628 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16316841 | 5468 | PPARG | umls:C0029928 | BeFree | Our findings suggest that Pro12Ala PPAR-gamma gene polymorphism may be protective against IR and might prevent the development of diabetes mellitus in the first-degree relatives of subjects with PCOS. | 0.004071628 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16316841 | 3630 | INS | umls:C0029928 | BeFree | Compared with first-degree relatives of PCOS subjects with the Pro12Pro polymorphism of PPAR-gamma, first-degree relatives of PCOS subjects with the Pro12Ala polymorphism had low fasting insulin, HOMA-IR and AUC insulin levels. | 0.019815257 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs189947178 | 24086769 | 57706 | DENND1A | umls:C0029928 | BeFree | In conclusion, sequence analysis of the DENND1A gene of patients with PCOS did not identify alterations that alone could be responsible for the PCOS pathogenesis, but a missense SNP (rs189947178) was identified in one patient and significantly more carriers of rs189947178 were found among patients with PCOS and moderate hirsutism vs. controls. | 0.001085767 | 2013 | DENND1A | 9 | 123382111 | G | T |
| rs190436077 | 18680073 | 3569 | IL6 | umls:C0029928 | BeFree | Sequence analyses of the PPAR gamma gene indicated that neither the common polymorphisms P12A or H478 H, nor novel polymorphisms (E79Q, V32G, -39 T>C, c.480 +33 t > g,) or unique sequence variations (S22S, A23A, T41A, S226C, K272 T, I484I, c.819 +24 a>c) detected in this investigation revealed evidence for a direct association of PPAR gamma with altered IL-7, IL-1beta, IL-6 and TNFalpha levels in PCOS patients. | 0.001628651 | 2008 | IL6;LOC541472 | 7 | 22728717 | G | C |
| rs2002555 | 23969185 | 268 | AMH | umls:C0029928 | BeFree | The purpose of this study was to evaluate the association of the anti-Müllerian hormone receptor 2 (AMHR2) -482 A>G polymorphism (rs2002555) with the pathophysiology of PCOS. | 0.002442977 | 2014 | AMHR2 | 12 | 53423453 | A | G |
| rs2119882 | 21474908 | 3630 | INS | umls:C0029928 | BeFree | SNP rs2119882 was associated with higher fasting plasma glucose concentrations (p = 0.021) and OGTT-induced insulin release at 0, 30, 60, and 120 min (all p < 0.05) in PCOS cases, as well as an increased homeostasis model assessment for insulin resistance (p = 0.005). | 0.019815257 | 2011 | MTNR1A | 4 | 186555751 | T | C |
| rs2209972 | 17953957 | 3416 | IDE | umls:C0029928 | BeFree | The single nucleotide polymorphism rs2209972 in the human IDE gene is associated with metabolic features of PCOS women in a Chinese population. | 0.000271442 | 2008 | MARK2P9 | 10 | 92419271 | C | T |
| rs2241766 | 23685884 | 9370 | ADIPOQ | umls:C0029928 | BeFree | Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to susceptibility to PCOS, and might be associated with increased blood pressure in PCOS. | 0.003257302 | 2014 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2241766 | 20388053 | 9370 | ADIPOQ | umls:C0029928 | BeFree | The risk of PCOS, hyperandrogenism in patients with PCOS and low serum adiponectin levels cannot be directly attributed to T45G adiponectin gene polymorphisms in exon 2, rather these polymorphisms may be associated with insulin resistance and hyperinsulinemia in PCOS. | 0.003257302 | 2010 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2241766 | 22270872 | 9370 | ADIPOQ | umls:C0029928 | BeFree | Our results suggested that the T45G polymorphism of adiponectin gene was not significantly associated with PCOS, while the G276T polymorphism was related to a decreased risk of PCOS. | 0.003257302 | 2012 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2414096 | 20015405 | 1588 | CYP19A1 | umls:C0029928 | BeFree | Our data suggest that SNP rs2414096 in the CYP19 gene is associated with susceptibility to PCOS. | 0.123257302 | 2009 | CYP19A1;PIRC66 | 15 | 51237582 | G | A |
| rs2470152 | 21972004 | 1588 | CYP19A1 | umls:C0029928 | BeFree | Therefore, rs2470152 in CYP19 was not a major etiological factor for PCOS; however, the heterozygous TC genotype may inhibit aromatase activity, resulting in hyperandrogenism, particularly in PCOS patients. | 0.123257302 | 2012 | CYP19A1;PIRC66 | 15 | 51302775 | G | A |
| rs2479106 | 23208300 | 3630 | INS | umls:C0029928 | BeFree | Using a dominant model, the GG + AG group for rs2479106 in DENND1A was associated with elevated serum insulin levels 2 h after a glucose load in the patients with PCOS (P = 0.02). | 0.019815257 | 2013 | DENND1A | 9 | 123762933 | A | G |
| rs2479106 | 23208300 | 3973 | LHCGR | umls:C0029928 | BeFree | In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS. | 0.000542884 | 2013 | DENND1A | 9 | 123762933 | A | G |
| rs2815752 | 21283731 | 257194 | NEGR1 | umls:C0029928 | BeFree | Only one of these 15 SNPs (rs2815752 in NEGR1) was found to have a nominally significant association with PCOS (χ(2) = 6.11, P = 0.013), but this association failed to replicate in the case-control study. | 0.000271442 | 2011 | LOC105378797 | 1 | 72346757 | G | A |
| rs2910397 | 23861462 | 6822 | SULT2A1 | umls:C0029928 | BeFree | SNP rs2910397 in SULT2A1 decreased the DHEAS to DHEA ratio in PCOS by 5% in the discovery sample. | 0.001085767 | 2013 | NA | 19 | 47894860 | C | T |
| rs34603401 | 22306327 | 9563 | H6PD | umls:C0029928 | BeFree | In summary, the R453Q and D151A variants of the H6PD gene are associated with PCOS and obesity, respectively, and may contribute to the PCOS phenotype by influencing obesity, insulin resistance and hyperandrogenism. | 0.001085767 | 2012 | H6PD | 1 | 9245386 | A | C |
| rs3797179 | 23375202 | 6715 | SRD5A1 | umls:C0029928 | BeFree | Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS. | 0.001085767 | 2013 | SRD5A1 | 5 | 6666809 | G | A |
| rs3797297 | 17284512 | 10468 | FST | umls:C0029928 | BeFree | We conclude that FST is not a susceptibility locus for PCOS; however, the SNP rs3797297 from FST gene was associated with androgenic markers for PCOS and may be of importance in the hyperandrogenaemia of the disease. | 0.001900093 | 2007 | FST | 5 | 53481826 | G | T |
| rs386597997 | 17342155 | 3767 | KCNJ11 | umls:C0029928 | BeFree | In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded. | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs397507444 | 22882325 | 5054 | SERPINE1 | umls:C0029928 | BeFree | Our results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS. | 0.002442977 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22882325 | 4524 | MTHFR | umls:C0029928 | BeFree | Our results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS. | 0.000542884 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs4141819 | 25678572 | 55591 | VEZT | umls:C0029928 | BeFree | SNP rs10859871 near the vezatin (VEZT) gene was found to be significantly associated with endometriosis in general while SNPs rs17694933 and rs4141819 were associated with Stage III/IV and ovarian disease, respectively. | 0.000271442 | 2015 | NA | 2 | 67637543 | C | T |
| rs4994 | 15670186 | 155 | ADRB3 | umls:C0029928 | BeFree | In the crude analysis, hypothesis tests and odds ratios show that there is no evidence of association between the ADRB3 Trp64Arg variant and PCOS (P = 0.47). | 0.000271442 | 2005 | ADRB3 | 8 | 37966280 | A | G |
| rs5219 | 17342155 | 3767 | KCNJ11 | umls:C0029928 | BeFree | In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded. | 0.000542884 | 2007 | KCNJ11 | 11 | 17388025 | T | C |
| rs523349 | 16849416 | 6716 | SRD5A2 | umls:C0029928 | BeFree | The Leu allele of the Val89Leu variant in SRD5A2 was associated with protection against PCOS; this allele is known to modestly reduce 5alpha-reductase activity. | 0.000542884 | 2006 | SRD5A2 | 2 | 31580636 | G | C |
| rs6152 | 20450840 | 367 | AR | umls:C0029928 | BeFree | The rs6152G/A AR gene polymorphism has been reported to be associated with male pattern baldness (MPB), which is a common characteristic of males in PCOS families. | 0.006981544 | 2010 | AR | X | 67545785 | G | A |
| rs6165 | 20514429 | 2492 | FSHR | umls:C0029928 | BeFree | Consequently, the Ser680Asn polymorphism of FSHR might significantly affect PCOS patients, separately from the Ala307Thr polymorphism. | 0.002985861 | 2010 | FSHR | 2 | 48963902 | C | T,G |
| rs6165 | 21792664 | 2492 | FSHR | umls:C0029928 | BeFree | The heterozygote FSH-R polymorphism Ala307Thr is significantly more frequent in women with PCOS than in normo-ovulatory subjects and is more frequently associated with a higher ovarian responsiveness to exogenous FSH. | 0.002985861 | 2011 | FSHR | 2 | 48963902 | C | T,G |
| rs6165 | 21792664 | 6046 | BRD2 | umls:C0029928 | BeFree | The heterozygote FSH-R polymorphism Ala307Thr is significantly more frequent in women with PCOS than in normo-ovulatory subjects and is more frequently associated with a higher ovarian responsiveness to exogenous FSH. | 0.005157396 | 2011 | FSHR | 2 | 48963902 | C | T,G |
| rs6166 | 22429116 | 268 | AMH | umls:C0029928 | BeFree | The frequency of FSHR p.Asn680Ser genotypes were not significantly different between PCOS patients, patients with high AMH without PCOS and controls (p = 0.88). | 0.002442977 | 2012 | FSHR | 2 | 48962782 | C | T |
| rs6166 | 20514429 | 2492 | FSHR | umls:C0029928 | BeFree | Consequently, the Ser680Asn polymorphism of FSHR might significantly affect PCOS patients, separately from the Ala307Thr polymorphism. | 0.002985861 | 2010 | FSHR | 2 | 48962782 | C | T |
| rs6166 | 22429116 | 2492 | FSHR | umls:C0029928 | BeFree | There is no evidence that FSHR p.Asn680Ser genotypes are associated with PCOS, high AMH levels or response to clomiphene citrate. | 0.002985861 | 2012 | FSHR | 2 | 48962782 | C | T |
| rs6688832 | 15827106 | 9563 | H6PD | umls:C0029928 | BeFree | On the contrary, the H6PD R453Q variant is associated with PCOS and might influence its phenotype by influencing adrenal activity. | 0.001085767 | 2005 | H6PD | 1 | 9263851 | G | A,C |
| rs6688832 | 22306327 | 9563 | H6PD | umls:C0029928 | BeFree | In summary, the R453Q and D151A variants of the H6PD gene are associated with PCOS and obesity, respectively, and may contribute to the PCOS phenotype by influencing obesity, insulin resistance and hyperandrogenism. | 0.001085767 | 2012 | H6PD | 1 | 9263851 | G | A,C |
| rs692243 | 19574280 | 53632 | PRKAG3 | umls:C0029928 | BeFree | Nominal associations of PRKAA2 variants with insulin-related traits and the PRKAG3 Pro71Ala variant with PCOS were not statistically significant after multiple testing correction. | 0.000271442 | 2009 | PRKAG3 | 2 | 218830764 | G | C |
| rs692243 | 19574280 | 3630 | INS | umls:C0029928 | BeFree | Nominal associations of PRKAA2 variants with insulin-related traits and the PRKAG3 Pro71Ala variant with PCOS were not statistically significant after multiple testing correction. | 0.019815257 | 2009 | PRKAG3 | 2 | 218830764 | G | C |
| rs692243 | 19574280 | 5563 | PRKAA2 | umls:C0029928 | BeFree | Nominal associations of PRKAA2 variants with insulin-related traits and the PRKAG3 Pro71Ala variant with PCOS were not statistically significant after multiple testing correction. | 0.000271442 | 2009 | PRKAG3 | 2 | 218830764 | G | C |
| rs696217 | 19049992 | 51738 | GHRL | umls:C0029928 | BeFree | No association was found between Leu72Met and Arg51Gln polymorphisms in the ghrelin gene and PCOS in Chinese population. | 0.000542884 | 2009 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs700519 | 21282199 | 1588 | CYP19A1 | umls:C0029928 | BeFree | The Arg(264)Cys variant of CYP19A1 (rs700519) is associated with PCOS (P= 0.004, corrected P = 0.02). | 0.123257302 | 2011 | CYP19A1;PIRC66 | 15 | 51215771 | G | A |
| rs727428 | 21252242 | 6462 | SHBG | umls:C0029928 | BeFree | Although SHBG SNPs associated with type 2 diabetes mellitus do not appear to be associated with PCOS status, rs1799941 and rs727428 genotypes are associated with SHBG levels independent of the effects of insulin resistance and obesity. | 0.005700279 | 2011 | NA | 17 | 7634474 | T | C |
| rs7903146 | 24815492 | 6934 | TCF7L2 | umls:C0029928 | BeFree | The findings of this systemic analysis suggest that the polymorphism of TCF7L2 rs7903146 may not be associated with the susceptibility to PCOS. | 0.002714419 | 2015 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 24611738 | 6934 | TCF7L2 | umls:C0029928 | BeFree | Our findings provide convincing evidence that TCF7L2 genetic polymorphisms may contribute to susceptibility to PCOS, especially for the rs7903146 C→T polymorphism among Caucasians and Asians. | 0.002714419 | 2014 | TCF7L2 | 10 | 112998590 | C | T |
| rs854560 | 20334584 | 5444 | PON1 | umls:C0029928 | BeFree | None of the variants of the Leu55Met PON1 polymorphism was associated with more frequent occurrence of PCOS or metabolic disorders, including insulin resistance. | 0.000814326 | 2010 | PON1 | 7 | 95316772 | A | C,G,N,T |
| rs9939609 | 19859840 | 79068 | FTO | umls:C0029928 | BeFree | In conclusions, the rs9939609 variant in the FTO gene is associated with PCOS susceptibility in the Chinese population, probably because of its effect on BMI. | 0.002985861 | 2009 | FTO | 16 | 53786615 | T | A |
