Abstract
Puberty is a transition period where a child transforms to an adult. Puberty can be affected by various genetic factors and environmental influences. In mammals, the regulation of puberty is enhanced by the hypothalamic-pituitary-gonadal axis (HPG axis). A number of genes such as GnRH, Kiss1, and GPR54 have been reported as key regulators of puberty onset. In this study, we have conducted an association study of puberty-related candidate genes in Chinese female population. Gene variations reported to be related with some traits in a population may not exist in others due to different genetic and ethnic backgrounds, hence the need for this kind of study. The genotyping of SNPs was based on multiplex PCR and the next-generation sequencing (NGS) platform of Illumina. We finally performed association study using PLINK software. Our results confirmed that SNPs rs34787247 in LIN28, rs74795793 and rs9347389 in OCT-1, and rs379202 and rs10491080 in ZEB1 genes showed a significant association with puberty. With the result, it is reasonable to conclude that these genes affect the process of puberty in Shanghai Chinese female population, yet the mechanism remains to be investigated by further study.
Highlights
Puberty is a period of transition where one turns from childhood to adulthood, achieving reproductive capacity [1]
Studies have indicated that MKRN3 can repress puberty onset in mice [6]. It has been reported by previous genome-wide association studies that single nucleotide polymorphisms (SNPs) near LIN 28B changed the age at menarche [7]
Thereafter, specific genetic variants single nucleotide polymorphisms (SNPs) were chosen from the known variants based on their linkage disequilibrium (LD)
Summary
Puberty is a period of transition where one turns from childhood to adulthood, achieving reproductive capacity [1]. This process takes a period of time and involves a number of events that lead to full activation of reproduction [2]. Studies have indicated that MKRN3 can repress puberty onset in mice [6]. It has been reported by previous genome-wide association studies that single nucleotide polymorphisms (SNPs) near LIN 28B changed the age at menarche [7]. Perry et al [8] in their GWAs study identified loci which are associated with menarche on women within 3 imprinted genes
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