School of Biological Sciences, University of Hong Kong, Pokfulam, Hong Kong SAR, PR China.
Hum Reprod Update. 2012 Mar-Apr;18(2):198-210. doi: 10.1093/humupd/dmr050. Epub 2012 Jan 18.
Menarche is the first menstrual period of a girl at puberty. The timing of menarche is important for health in later life. Age at menarche is a complex trait and has a strong genetic component. This review summarizes the results of the genetic studies of age at menarche conducted to date, highlights existing problems in this area and outlines prospects of future studies on genetic factors for the trait.
PubMed and Google Scholar were searched until May 2011 using the keywords: 'menarche', 'puberty' and 'age at menarche' in combination with the keywords 'polymorphism', 'candidate gene', 'genome-wide association study' and 'linkage'.
Our search yielded 170 papers, 35 of which were selected for further analysis. Several large-scale genome-wide association studies along with a powerful meta-analysis of their aggregated data identified about 50 candidate genes for the trait. Some genes were replicated in different studies of Caucasians (e.g. LIN28B, TMEM38B) or in different ethnicities (e.g. SPOCK, RANK and RANKL). However, despite the large volume of results obtained, there is a huge gap in relevant data on ethnic groups other than Caucasians.
The reviewed studies laid a solid basis for future research on genetics of age at menarche. However, as yet specific genes for this trait have not been identified consistently in all ethnicities and types of studies. We suggest expanding the research to different ethnicities and propose several methodologies to increase the efficiency of studies in this area, including a systems approach, which combines existing high-throughput methods in a single pipeline.
初潮是女孩青春期的第一次月经。初潮的时间对以后的健康很重要。初潮年龄是一个复杂的特征，具有很强的遗传成分。这篇综述总结了迄今为止关于初潮年龄的遗传研究结果，突出了该领域存在的问题，并概述了未来关于该特征遗传因素的研究前景。
使用关键词“menarche”、“puberty”和“age at menarche”与“polymorphism”、“candidate gene”、“genome-wide association study”和“linkage”相结合，在 PubMed 和 Google Scholar 上进行搜索，截至 2011 年 5 月。
我们的搜索结果产生了 170 篇论文，其中 35 篇被选作进一步分析。几项大规模的全基因组关联研究以及对其汇总数据的强大荟萃分析确定了大约 50 个候选基因。一些基因在白种人（如 LIN28B、TMEM38B）或不同种族（如 SPOCK、RANK 和 RANKL）的不同研究中得到了复制。然而，尽管获得了大量的结果，但在除白种人以外的其他种族的相关数据方面仍存在巨大差距。
综述研究为未来的初潮年龄遗传学研究奠定了坚实的基础。然而，迄今为止，该特征的特定基因尚未在所有种族和类型的研究中得到一致确定。我们建议将研究扩展到不同的种族，并提出了几种提高该领域研究效率的方法，包括系统方法，即将现有的高通量方法整合到一个单一的管道中。
