|
rs3847153
|
|
|
0.810 |
GeneticVariation |
BEFREE |
To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs3108910; and one SNP each in HK3 (rs2278493), ESR1 (rs2234693) and BRSK1 (rs12611091) - are associated with premature ovarian failure (POF) in a different ethnic group (Serbian).
|
24103315 |
2014 |
|
rs3847153
|
|
|
0.810 |
GeneticVariation |
GWASCAT |
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).
|
21989058 |
2012 |
|
rs3847153
|
|
|
0.810 |
GeneticVariation |
GWASDB |
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).
|
21989058 |
2012 |
|
rs246246
|
|
|
0.710 |
GeneticVariation |
BEFREE |
ADAMTS19 expression is higher in the murine embryonic ovary than in the embryonic testis during sexual differentiation, and an ADAMTS19 SNP (rs246246) showed a possible association with POF in a genome-wide association study in Caucasian women.
|
24014609 |
2013 |
|
rs246246
|
|
|
0.710 |
GeneticVariation |
GWASDB |
Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene.
|
19508998 |
2009 |
|
rs4323056
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
A High-risk Haplotype for Premature Menopause in Childhood Cancer Survivors Exposed to Gonadotoxic Therapy.
|
29432556 |
2018 |
|
rs9999820
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
A High-risk Haplotype for Premature Menopause in Childhood Cancer Survivors Exposed to Gonadotoxic Therapy.
|
29432556 |
2018 |
|
rs1057519602
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Stratified analysis was applied for INHA 769G>A by ethnicity; a significant association with POF was only found in the Asian subgroup (allelic frequency: OR 8.89, 95% CI 2.1-5.52; p=0.004).
|
25445105 |
2014 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The INHα -124A/G, -16C/T, 679G/A, and 769G/A polymorphisms were analyzed in 52 women with POF and 55 normal healthy women using polymerase chain reaction-restriction enzyme fragment length polymorphism analysis.
|
21785376 |
2011 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Although the reduction of inhibin B bioactivity by the INHA G769A mutation is clearly not the only cause, evidence suggests that this change may serve as a susceptibility factor, increasing the likelihood of POF.
|
19752047 |
2010 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The meta-analysis showed significant heterogeneity among the studies (P(Q) = 0.01, I(2) = 74%) and lack of evidence that carriers of the G769A variant confer risk of POF: OR = 1.38 (0.48-3.94).
|
19542176 |
2009 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
This study supports the hypothesis that the INHA 769G>A variant may increase susceptibility to POF with impaired inhibin B bioactivity and provides insight into the complex aetiology of POF.
|
17933751 |
2007 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.
|
16396934 |
2006 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
G769A variation of INHalpha is rare in Korea women with POF.
|
15227735 |
2004 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The analysis of pedigrees showing the inheritance of the 769G-->A mutation and POF strengthens the concept of the disease heterogeneity, since the POF phenotype was not always associated with the mutation.
|
12093833 |
2002 |
|
rs121909658
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A homozygous missense mutation, C566T, in the follicle stimulation hormone receptor (FSHR) gene has been linked to premature ovarian failure.
|
20086006 |
2010 |
|
rs121909658
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Toward gene therapy of primary ovarian failure: adenovirus expressing human FSH receptor corrects the Finnish C566T mutation.
|
18084009 |
2008 |
|
rs121909658
|
|
|
0.050 |
GeneticVariation |
BEFREE |
An inactivating point mutation (Ala189Val) in the FSH receptor (FSHR) causes primary ovarian failure.
|
11756374 |
2002 |
|
rs121909658
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Neither of the two FSHR mutations (566C-->T or1255G-->A) was identified in 40 other Finnish patients with premature ovarian failure.
|
11889179 |
2002 |
|
rs121909658
|
|
|
0.050 |
GeneticVariation |
BEFREE |
No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure.
|
9757892 |
1998 |
|
rs6166
|
|
|
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 |
|
rs6166
|
|
|
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 |
|
rs6166
|
|
|
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 |
|
rs6166
|
|
|
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 |