The first menstrual period, or menarche, is an important milestone in female sexual maturation. Studies have begun to determine how genetic variation influences age at menarche (AAM), with a large study recently published in Nature Genetics adding considerably to this knowledge base.

To study the effect of common genetic variants on AAM, the researchers performed the largest genome-wide association study (GWAS) to date focused on this topic, using genomic data from approximately 800,000 women. They also looked at rare genetic variants using an exome-wide association study that included over 220,000 women.

中文翻译：

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初潮年龄背后的遗传学

第一次月经或初潮是女性性成熟的一个重要里程碑。研究已经开始确定遗传变异如何影响初潮年龄 (AAM)，最近发表在《自然遗传学》上的一项大型研究大大丰富了这一知识库。

为了研究常见遗传变异对 AAM 的影响，研究人员使用来自约 800,000 名女性的基因组数据进行了迄今为止最大的全基因组关联研究 (GWAS)，重点关注这一主题。他们还利用一项涵盖超过 220,000 名女性的全外显子组关联研究来研究罕见的遗传变异。