Expressive

rs10104523 - KCNB2 - TERF1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways. - Nature genetics (2022) · Watanabe K, Jansen PR, Savage JE, Nandakumar P, Wang X, Hinds DA, Gelernter J, Levey DF, Polimanti R, Stein MB, Van Someren EJW, Smit AB, Posthuma D · PubMed 35835914

    Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment currently exists. Previous genome-wide association studies with up to 1.3 million subjects identified over 200 associated loci. This extreme polygenicity suggested that many more loci remain to be discovered. The current study almost doubled the sample size to 593,724 cases and 1,771,286 controls, thereby increasing statistical power, and identified 554 risk loci (including 364 novel loci). To capitalize on this large number of loci, we propose a novel strategy to prioritize genes using external biological resources and functional interactions between genes across risk loci. Of all 3,898 genes naively implicated from the risk loci, we prioritize 289 and find brain-tissue expression spec

  • Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour - Unknown journal (n.d.) · Unknown authors · PubMed 34211149

    ABSTRACT: Age at first sexual intercourse (AFS) and age at first birth (AFB) have implications for health and evolutionary fitness. In this genome-wide association study (AFS, N=387,338; AFB, N=542,901), we identify 371 SNPs, 11 sex-specific, with a 5-6% polygenic score (PGS) prediction. Heritability of AFB shifted from 9% [CI=4-14] for women born in 1940 to 22% [CI=19-25] in 1965. Signals are driven by the genetics of reproductive biology and externalising behaviour, with key genes related to follicle stimulating hormone (FSHB), implantation (ESR1), infertility, and spermatid differentiation. Our findings suggest that Polycystic Ovarian Syndrome may lead to later AFB, linking with infertility. Late AFB is associated with parental longevity, and reduced incidence of Type 2 Diabetes (T2D) a

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