PMID: 20631455Jul 16, 2010Paper

KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect

Endocrine Journal
Jung Min KoJin Soon Hwang

Abstract

Mutations in the GPR54 gene have already been identified as a cause of idiopathic hypogonadotrophic hypogonadism and central precocious puberty (CPP) in certain patients. However, currently there is only a limited amount of data available regarding KISS1 gene mutations or polymorphisms. The aim of this study is to identify KISS1 gene mutations or polymorphisms in Korean girls with CPP. 101 Korean girls with CPP were recruited as the patient group, and 51 healthy Korean female adults as the control group. All coding exons and exon-intron boundaries of the KISS1 gene were sequenced. The relationships between identified sequence variations and CPP were evaluated via the comparison of allele frequencies between the two groups. Different clinical characteristics were also compared between the subgroups with or without a certain variation in the patient group. Eight polymorphisms were identified in the KISS1 gene. Although two of them were novel, those polymorphisms could not lead to amino acid changes. p.P110T was detected less frequently in CPP patients than in the controls (P = 0.022). Moreover, the CPP patients with p.P110T evidenced lower peak FSH values under GnRH stimulation than those without p.P110T (P = 0.002). The allele f...Continue Reading

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