The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity.
The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity.
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DOI：
10.1097/med.0000000000000213
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发表时间：
2016-02
期刊：
影响因子：
--
通讯作者：
Palmert MR
中科院分区：
文献类型：
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作者：
Cousminer DL;Widén E;Palmert MR
概述了基于普通人群研究的青春期遗传学进展，描述了性别特异性遗传影响青春期时间的证据，并简要回顾了介导两性二态遗传影响的可能机制。青春期的时间是高度多基因的，许多位点在种族之间是保守的。许多已确定的基因座决定了青春期时间和相关特征，如身高和身体质量指数（BMI）。越来越明显的是，了解调节青春期开始的因素是很重要的，因为这个发育阶段的时间与成人健康结果的关系比以前认识到的更广泛。虽然青春期时间背后的大多数遗传影响在男孩和女孩之间是共同的，但有些影响表现出性别特异性，许多影响是表观遗传调节的。几种潜在的机制，包括不依赖激素的机制，可能对观察到的性别差异负责。对普通人群青春期发育时间的研究为这一复杂性状的遗传结构提供了新的认识。对性别特异性效应的日益关注，可能通过识别共同的潜在生物学途径，为了解青春期时间的两性二态性，甚至青春期与成人健康风险之间的关系提供关键见解。
To overview advances in the genetics of puberty based on studies in the general population, describe evidence for sex-specific genetic effects on pubertal timing, and briefly review possible mechanisms mediating sexually dimorphic genetic effects. Pubertal timing is highly polygenic, and many loci are conserved among ethnicities. A number of identified loci underlie both pubertal timing and related traits such as height and body mass index (BMI). It is increasingly apparent that understanding the factors modulating the onset of puberty is important because the timing of this developmental stage is associated with a wider range of adult health outcomes than previously appreciated. While most of the genetic effects underlying the timing of puberty are common between boys and girls, some effects show sex-specificity and many are epigenetically modulated. Several potential mechanisms, including hormone-independent ones, may be responsible for observed sex differences. Studies of pubertal timing in the general population have provided new knowledge about the genetic architecture of this complex trait. Increasing attention paid to sex-specific effects may provide key insights into the sexual dimorphism in pubertal timing and even into the associations between puberty and adult health risks by identifying common underlying biological pathways.