Mutations |
1 mutations
Species: human
Mutation name:
type: naturally occurring
fertility: fertile
Comment: Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Stolk L et al. (2010) We conducted a genome-wide association study for age at natural menopause in 2,979 European women and identified six SNPs in three loci associated with age at natural menopause: chromosome 19q13.4 (rs1172822; -0.4 year per T allele (39%); P = 6.3 × 10(-11)), chromosome 20p12.3 (rs236114; +0.5 year per A allele (21%); P = 9.7 × 10(-11)) and chromosome 13q34 (rs7333181; +0.5 year per A allele (12%); P = 2.5 × 10(-8)). These common genetic variants regulate timing of ovarian aging, an important risk factor for breast cancer, osteoporosis and cardiovascular disease.//////////////////ARHGEF7 has a role in cell proliferation through phosphorylation of FOXO3a. FOXO3a knockout mice are infertile due to early depletion of the follicle pool, indicating a possible role of this gene in menopause
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