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鉴定 371 个与初次性行为年龄和生育相关的、与外向行为有关的遗传变异。

Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour.

机构信息

Leverhulme Centre for Demographic Science, University of Oxford, Oxford, United Kingdom.

Nuffield College, University of Oxford, Oxford, United Kingdom.

出版信息

Nat Hum Behav. 2021 Dec;5(12):1717-1730. doi: 10.1038/s41562-021-01135-3. Epub 2021 Jul 1.

DOI:10.1038/s41562-021-01135-3
PMID:34211149
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7612120/
Abstract

Age at first sexual intercourse and age at first birth have implications for health and evolutionary fitness. In this genome-wide association study (age at first sexual intercourse, N = 387,338; age at first birth, N = 542,901), we identify 371 single-nucleotide polymorphisms, 11 sex-specific, with a 5-6% polygenic score prediction. Heritability of age at first birth shifted from 9% [CI = 4-14%] for women born in 1940 to 22% [CI = 19-25%] for those born 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 age at first birth, linking with infertility. Late age at first birth is associated with parental longevity and reduced incidence of type 2 diabetes and cardiovascular disease. Higher childhood socioeconomic circumstances and those in the highest polygenic score decile (90%+) experience markedly later reproductive onset. Results are relevant for improving teenage and late-life health, understanding longevity and guiding experimentation into mechanisms of infertility.

摘要

首次性行为年龄和首次生育年龄对健康和进化适应性都有影响。在这项全基因组关联研究(首次性行为年龄,N=387338;首次生育年龄,N=542901)中,我们鉴定出 371 个单核苷酸多态性,其中 11 个具有性别特异性,多基因评分预测准确率为 5%-6%。首次生育年龄的遗传力从 1940 年出生女性的 9%(置信区间:4%-14%)转变为 1965 年出生女性的 22%(置信区间:19%-25%)。信号由生殖生物学和外化行为的遗传学驱动,关键基因与卵泡刺激素(FSHB)、着床(ESR1)、不孕和精子分化有关。我们的研究结果表明,多囊卵巢综合征可能导致首次生育年龄延迟,与不孕有关。首次生育年龄较晚与父母长寿以及 2 型糖尿病和心血管疾病发病率降低有关。儿童时期社会经济环境较好,以及多基因评分最高十分位数(90%+)的人群,生殖起始时间明显较晚。这些结果对于改善青少年和晚年健康、理解长寿和指导不孕机制的实验具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e559/7612120/6e15ea9e8d2a/EMS124573-f006.jpg
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