Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE Findings of this study suggest a significant association between FSHR gene p. Thr307Ala or p. Asn680Ser coding sequence change and PCOS. 28547204

2017

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE However, meta-analysis results showed no association between both FSHR Thr307Ala polymorphism and Asn680Ser polymorphism and susceptibility to PCOS. 25218548

2014

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE The Ala307Thr and Ser680Asn polymorphisms of FSHR are not associated with PCOS in Han ethnic Chinese women in north China. 24390680

2014

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE The prevalence of Asparagine680Asparagine (NN), Asparagine680Serine (NS), and Serine680Serine (SS) genotypes at codon 680 was 54.5% (95% CI = 45.7-63.2%), 40.9% (95% CI = 32.5-49.8%), and 4.5% (95% CI = 1.9-10.1%) in controls; 51.9% (95% CI = 43.1-60.6%), 44.4% (95% CI = 35.8-53.2%), and 3.8% (95% CI = 1.4-9.0%) in PCOS women; and 47.9% (95% CI = 40.4-58.8%), 47.1% (95% CI = 36.5-54.7%), and 5.0% (95% CI = 2-10.9%) in anovulatory women without PCOS, respectively. 25179311

2014

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women. 23536150

2013

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE There is no evidence that FSHR p.Asn680Ser genotypes are associated with PCOS, high AMH levels or response to clomiphene citrate. 22429116

2012

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE Consequently, the Ser680Asn</span> polymorphism of FSHR might significantly affect PCOS patients, separately from the Ala307Thr polymorphism. 20514429

2010

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE Meanwhile, a meta-analysis including our study (altogether six POF and eight PCOS studies) showed significant association between rs6166 marker and PCOS (p<0.05). 20399696

2010

dbSNP: rs6166
rs6166
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.090 GeneticVariation BEFREE Two known polymorphisms, Thr307Ala and Ser680Asn showed similar distributions of the allelic variations and protein isoforms in PCOS and normal control subjects (n = 236). 11383926

2001

dbSNP: rs6166
rs6166
CUI: C0021364
Disease: Male infertility
Male infertility
0.060 GeneticVariation BEFREE Then in the meta-analysis, a significant association was seen between FSHR rs6165, rs6166 polymorphisms and male infertility. 28764642

2017

dbSNP: rs6166
rs6166
CUI: C0021364
Disease: Male infertility
Male infertility
0.060 GeneticVariation BEFREE Our studies further confirmed reports that there were no significant associations between the FSHR Thr307Ala and Asn680Ser polymorphisms and male infertility risk. 26125757

2015

dbSNP: rs6166
rs6166
CUI: C0021364
Disease: Male infertility
Male infertility
0.060 GeneticVariation BEFREE No statistical difference was detected in allelic distribution of the FSHR Asn680Ser between the Baltic cohort and Estonian male infertility group. 23413141

2013

dbSNP: rs6166
rs6166
CUI: C0021364
Disease: Male infertility
Male infertility
0.060 GeneticVariation BEFREE In conclusion, the findings demonstrate that, in Brazilian population studied, genetic variations, Asn680Ser and Thr307Ala, of the FSHR gene are not correlated with serum FSH levels or sperm count in male infertility. 22421444

2012

dbSNP: rs6166
rs6166
CUI: C0021364
Disease: Male infertility
Male infertility
0.060 GeneticVariation BEFREE This meta-analysis supports that FSHR G-29A, Thr(307)Ala and Asn(680)Ser polymorphisms may not be capable of causing male infertility susceptibility. 22414334

2012

dbSNP: rs6166
rs6166
CUI: C0021364
Disease: Male infertility
Male infertility
0.060 GeneticVariation BEFREE Evaluating the role of the FSH receptor gene Thr307-Ala and Asn680-Ser polymorphisms in male infertility and their association with semen quality and reproductive hormones. 21105990

2011

dbSNP: rs6166
rs6166
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.040 GeneticVariation BEFREE Our findings indicated that FSHR rs6166 polymorphism may serve as a potential genetic biomarker of POI in Asians, but not in other ethnicities. 31629411

2019

dbSNP: rs6166
rs6166
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.040 GeneticVariation BEFREE However, when the endometriosis group was subdivided according to fertility status and dis</span>ease stage, a positive association was found between 680Ser/Ser or GG genotype of the Asn680Ser polymorphism and fertile women with endometriosis (p = 0.004). 29683332

2018

dbSNP: rs6166
rs6166
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.040 GeneticVariation BEFREE LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility. 25935136

2015

dbSNP: rs6166
rs6166
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.040 GeneticVariation BEFREE The purpose of this study was to evaluate the influence of the follicle-stimulating hormone (FSH) receptor poymorphisms Asn680Ser and Thr307Ala on endometriosis in Turkish women. 25502184

2015

dbSNP: rs6166
rs6166
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.040 GeneticVariation BEFREE For the A/G polymorphism of FSH receptor gene (Asn680Ser), a univariate analysis for women with endometriosis demonstrated that both the GG genotype (680Ser/Ser) and GA genotype (680Ser/Asn) were associated with a significantly lower risk of endometriosis. 20817169

2011

dbSNP: rs6166
rs6166
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.040 GeneticVariation BEFREE We observed a significant association between premature ovarian failure and the combined genetic effect of single nucleotide polymorphism (SNP) rs4646 (CA+AA) in the 3' untranslated region of CYP19A1 and the missense FSHR SNP rs6166 (AG+GG) genotype (odds ratio 5.42, 95% confidence interval 1.96-14.98), and we identified a significant association between premature ovarian failure and the combined genetic effect of the FSHR missense SNP rs6166 (AA) and the rs4646-rs10046 haplotype (C-T)+(C-C) (odds ratio 5.47, 95% confidence interval 2.03-14.75), suggesting that two biochemical pathways may be involved in the regulation of folliculogenesis. 21269619

2011

dbSNP: rs6166
rs6166
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.040 GeneticVariation BEFREE Meanwhile, a meta-analysis including our study (altogether six POF and eight PCOS studies) showed significant association between rs6166 marker and PCOS (p<0.05). 20399696

2010

dbSNP: rs6166
rs6166
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.040 GeneticVariation BEFREE Exon 10 had two polymorphisms, G919A and G2039A, whose allelic frequencies were 46.7% and 56.6%, respectively, in women with POF. 9757892

1998

dbSNP: rs6166
rs6166
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.030 GeneticVariation BEFREE We observed a significant association between premature ovarian failure and the combined genetic effect of single nucleotide polymorphism (SNP) rs4646 (CA+AA) in the 3' untranslated region of CYP19A1 and the missense FSHR SNP rs6166 (AG+GG) genotype (odds ratio 5.42, 95% confidence interval 1.96-14.98), and we identified a significant association between premature ovarian failure and the combined genetic effect of the FSHR missense SNP rs6166 (AA) and the rs4646-rs10046 haplotype (C-T)+(C-C) (odds ratio 5.47, 95% confidence interval 2.03-14.75), suggesting that two biochemical pathways may be involved in the regulation of folliculogenesis. 21269619

2011

dbSNP: rs6166
rs6166
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.030 GeneticVariation BEFREE Meanwhile, a meta-analysis including our study (altogether six POF and eight PCOS studies) showed significant association between rs6166 marker and PCOS (p<0.05). 20399696

2010