青春期启动的遗传学。
Genetics of pubertal timing.
机构信息
Division of Endocrinology, Department of Medicine, Boston Children's Hospital.
Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
出版信息
Curr Opin Pediatr. 2018 Aug;30(4):532-540. doi: 10.1097/MOP.0000000000000642.
PURPOSE OF REVIEW
To summarize advances in the genetics underlying variation in normal pubertal timing, precocious puberty, and delayed puberty, and to discuss mechanisms by which genes may regulate pubertal timing.
RECENT FINDINGS
Genome-wide association studies have identified hundreds of loci that affect pubertal timing in the general population in both sexes and across ethnic groups. Single genes have been implicated in both precocious and delayed puberty. Potential mechanisms for how these genetic loci influence pubertal timing may include effects on the development and function of the GnRH neuronal network and the responsiveness of end-organs.
SUMMARY
There has been significant progress in identifying genetic loci that affect normal pubertal timing, and the first single-gene causes of precocious and delayed puberty are being described. How these genes influence pubertal timing remains to be determined.
目的综述
总结正常青春期启动、性早熟和青春期延迟相关遗传基础的研究进展，讨论基因调控青春期启动的可能机制。
最近的发现
全基因组关联研究鉴定了数百个与两性和不同种族人群的青春期启动相关的遗传位点。某些基因与性早熟和青春期延迟有关。这些遗传位点影响青春期启动的潜在机制可能包括对 GnRH 神经元网络发育和功能以及靶器官反应性的影响。
总结
在确定影响正常青春期启动的遗传位点方面已经取得了显著进展，并且正在描述第一个导致性早熟和青春期延迟的单基因病因。这些基因如何影响青春期启动仍有待确定。
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