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rs201947677
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We sequenced the NOBOX gene in 96 white women with POF and discovered seven known single-nucleotide polymorphisms and four novel variations, two of which, p.Arg355His and p.Arg360Gln, cause missense mutations in the homeobox domain.
|
17701902 |
2007 |
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rs573335459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutation c.199A>C was present in 4 of 127 premature ovarian failure (POF) cases and 1 of 10 secondary amenorrhea cases.
|
16278619 |
2007 |
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rs770542892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr).
|
17482612 |
2007 |
|
rs11773504
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While causative SNPs were not identified, the polymorphism of the non-synonymous SNP rs11773504 and the repeated association of ht1 with POF suggest that PTHB1 may contribute to POF pathogenesis.
|
18349106 |
2008 |
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rs147630867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that the H165R mutation associated with POF abolishes the binding of cytochrome P450 7A1 (CYP7A1) to PGRMC1.
|
18782852 |
2008 |
|
rs2227914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V).
|
18166824 |
2008 |
|
rs3884597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association between POF and two PTHB1 SNPs (rs3884597 and rs6944723) and part of ht1 was confirmed in the second stage analysis.
|
18349106 |
2008 |
|
rs6944723
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association between POF and two PTHB1 SNPs (rs3884597 and rs6944723) and part of ht1 was confirmed in the second stage analysis.
|
18349106 |
2008 |
|
rs71647803
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened 100 Chinese women with POF for mutations in the oocyte-specific gene FIGLA and identified three variants in four women: missense mutation c.11C --> A (p.A4E) was found in two women; deletion c. 15-36 del (p.G6fsX66), resulting in a frameshift that leads to haploinsufficiency, was found in one woman; and deletion c.419-421 delACA (p.140 delN) was found in one.
|
18499083 |
2008 |
|
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 |
|
rs121908359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a FOXL2 variant (p.Gly187Asp) in a case of POF without BPES.
|
19429596 |
2009 |
|
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 |
|
rs121909658
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A homozygous missense mutation, C566T, in the follicle stimulation hormone receptor (FSHR) gene has been linked to premature ovarian failure.
|
20086006 |
2010 |
|
rs1376873864
|
|
|
0.030 |
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 |
|
rs6166
|
|
|
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 |
|
rs104894767
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One variant (A180T) was identified among two POF cases, and also in two controls.
|
20364024 |
2010 |
|
rs121913529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this minireview, we summarize some of the physiological as well as pathological functions of RAS in the rodent ovary, discuss the implications of the Kras(G12D) mutant mouse models for understanding human diseases such as premature ovarian failure and ovarian cancers, and highlight new questions raised by the results of recent studies.
|
19880654 |
2010 |
|
rs141218518
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One variant (F194S), predicted as potentially deleterious, was identified for the first time in a POF patient but also identified in one control.
|
20364024 |
2010 |
|
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 |
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rs6166
|
|
|
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 |
|
rs10046
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant association with POF risk was found for the combined genetic effect between the CYP19A1 3'untranslated region (UTR) SNP rs10046 (CT+TT) and the intronic ESR1 SNP rs1569788 (CC) genotype (odds ratio=12.67, 95% confidence interval: 1.61-99.71), and a statistically significant association was also observed between POF and the CYP19A1 3'UTR SNP rs10046 under a dominant model (odds ratio=2.51, 95% confidence interval: 1.33-4.76), suggesting that epistasis between ESR1 and CYP19A1 may be involved in the regulation of folliculogenesis.
|
20797716 |
2011 |
|
rs10046
|
|
|
0.020 |
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 |
|
rs1057516159
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females.
|
21068205 |
2011 |
|
rs1222213359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The VEGF -1154G>A mutation, -2578CA+AA/-1154GA+AA combination genotype, and -2578A/-1154A haplotype are significantly associated with POF in Korean women.
|
21831507 |
2011 |
|
rs1569788
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant association with POF risk was found for the combined genetic effect between the CYP19A1 3'untranslated region (UTR) SNP rs10046 (CT+TT) and the intronic ESR1 SNP rs1569788 (CC) genotype (odds ratio=12.67, 95% confidence interval: 1.61-99.71), and a statistically significant association was also observed between POF and the CYP19A1 3'UTR SNP rs10046 under a dominant model (odds ratio=2.51, 95% confidence interval: 1.33-4.76), suggesting that epistasis between ESR1 and CYP19A1 may be involved in the regulation of folliculogenesis.
|
20797716 |
2011 |