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Age at menarche (AAM) is a common complex traits affected by genes and environmental factors. Menarche is the first menstruation, puberty girls usually occurs between 11 to 16 years. Menarche is an important sign of the girls in puberty. The adolescent developmental age of individuals have a great impact in the future of their daily lives, including their own, of society, but also on the psychological and cultural. Adolescent developmental age is difficult to define precisely, usually use AAM to indicate their age sooner or later. AAM is a risk factor of a number of disorders, such as depression, mental disorders, osteoporosis and breast cancer. Today there are a number of genome-wide association analysis identified AAM-associated genes and single nucleotide polymorphisms (SNPs). However, these potential gene method is just a drop in the ocean, which prompted us to further look for those that are still undiscovered, but AAM contribute to the rate of genetic variation. The main purpose of this article is to fill at home and abroad this academic with the copy number variation association studies have identified genetic loci of boom, and is no age at menarche phenotype association studies and genome-wide copy number variation blank. Copy number variation (CNV) is a type of genetic variation, fragment size ranging from 1kb to several Mb. The copy number polymorphisms (CNP) is a frequency greater than 1% of CNV. CNV has been shown to be associated with some of the complex human diseases. CNV accounted for 20% of the total variation in gene expression. In normal healthy individuals, the CNV is widely distributed in the genome means CNV may be a driving force of phenotypic diversity. Recently, our laboratory conducted a whole genome copy number association studies of osteoporosis, and identified two new candidate gene, UGT2B17 and VPS13B. However, there is still no research on the association between CNVs and AAM, the role of copy number variation of AAM unclear. In this study, 825 Han Chinese female population About AAM whole genome copy number variation association studies. Research using the Affymetrix GeneChip Human Mapping SNP 6.0 chip, and then in the 1728 U.S. Caucasians repeat verify the results significantly. We are located on chromosome 4q21.1 of CNP10744 in the populations of China and the United States have reached a significant level, p values ??were 0.017 and 0.010. CNP10744 area three associated genes, lymphocyte chemokine (CXCL13), the cyclin-G2 (CCNG2), cyclin I (CCNI). Their impact on women's health have an important role as the AAM potential impact factor. For example, is highly expressed in breast cancer tissue, acting on the insulin-like growth factor binding protein, the major hormones associated with the development of interaction, such as estrogen, androgen, gonadotropin, pituitary hormones, and adrenocorticotropic corticosteroids.
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