rs10931831 - PLCL1 - RNU7-147P
Magnitude 2.2 · 2 studies on file
Reported associations
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Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene. - Journal of human genetics (2023) · Tsai MC, Hsu CH, Chu SK, Roy-Gagnon MH, Lin SH · PubMed 36710296
Sexual maturation is a complex physiological process that involves multiple variables, such as genetic and environmental factors. Among females, age at menarche (AM) is a critical milestone for sexual maturation. This study aimed to identify genetic markers of AM using nationwide population cohort data in Taiwan. Females with self-reported AM between 10 and 16 years (N = 39,827) were eligible for the final analysis. To identify genetic signals related to AM, we conducted a genome-wide association study using a linear regression model and split-half meta-analysis method to verify our findings. The Functional Mapping and Annotation web-based platform was used for positional mapping and gene-based and gene-set analyses. The meta-analysis identified four significant loci, i.e., LIN28B (poo
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Elucidating the genetic architecture of reproductive ageing in the Japanese population - Unknown journal (n.d.) · Unknown authors · PubMed 29773799
ABSTRACT: Population studies elucidating the genetic architecture of reproductive ageing have been largely limited to European ancestries, restricting the generalizability of the findings and overlooking possible key genes poorly captured by common European genetic variation. Here, we report 26 loci (all P < 5 × 10-8) for reproductive ageing, i.e. puberty timing or age at menopause, in a non-European population (up to 67,029 women of Japanese ancestry). Highlighted genes for menopause include GNRH1, which supports a primary, rather than passive, role for hypothalamic-pituitary GnRH signalling in the timing of menopause. For puberty timing, we demonstrate an aetiological role for receptor-like protein tyrosine phosphatases by combining evidence across population genetics and pre-
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