Association study of TAC3 and TACR3 gene polymorphisms with idiopathic precocious puberty in Chinese girls.

Abstract

The allele variant of neurokinin B and its receptor genes were thought important in regulating the human reproductive axis in many populations. The aim of this study was to investigate whether the variances in TAC3 and TACR3 genes that encoded neurokinin B (NKB) and its receptor (NK3R), individually, were associated with idiopathic precocious puberty in Chinese girls. The genotyping method of polymerase chain reaction-restriction fragment length polymorphism was applied in this study; the distribution of five active single nucleon acid polymorphisms (SNPs) in TAC3 (p.G34R, p. A63P, p.Q66*, p.S99P, and a mutation on 5' UTR) and four sites in TACR3 (A29V or G, G59E, S455G, and A449S or T) genes was analyzed in 267 healthy and 186 idiopathic precocious puberty Chinese girls. Among the nine active SNPs, only A63P in TAC3 gene showed statistical differences; the p value was 0.024. A63P in TAC3 gene was statistically associated with the puberty onset time in Chinese girls.