Expressive

rs1172822 - BRSK1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Loci at chromosomes 13, 19 and 20 influence age at natural menopause - Unknown journal (n.d.) · Unknown authors · PubMed 19448619

    ABSTRACT: 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. FULL TEXT: [INTRO] Menopause, the time of a woman's life when menstrual cycle ceases owing to depletion of the follicle pool, is a key event in reproductive aging. It influences a woman's well-being and is an im

  • Genome-wide association studies identify novel loci associated with age at menarche and age at natural menopause - Unknown journal (n.d.) · Unknown authors · PubMed 19448621

    ABSTRACT: Age at menarche and age at natural menopause are associated with causes of substantial morbidity and mortality such as breast cancer and cardiovascular disease. Studies have suggested both traits might be partially under genetic control. We performed a joint analysis of two genome-wide association studies of these two traits in a total of 17,438 women from the Nurses' Health Study (NHS, N=2,287) and the Women's Genome Health Study (WGHS, N=15,151). For age at menarche, we identified 10 associated SNPs (P=1×10-7-3×10-13) clustered at 6q21 (in or near the gene LIN28B) and 9q31.2 (in an intergenic region). For age at natural menopause, we identified 13 associated SNPs (P=1×10-7-1×10-21) clustered at 20p12.3 (in the gene MCM8), 19q13.42 (in or near the gene BRSK1), 5q35.2 (in

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