Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls

Objective: The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset. yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated. This study was performed to reveal the relationship between the gene and the disease. Design and Methods: 2 72 Chinese Him girls diagnosed to be CPP patients were recruited as Case Group I. 43 unrelated African women as Case Group tl, and 288 unrelated normal Chinese Han girls as Control Group. Polymorphism scans of the KISS1 gene were performed for the first time by bidirectional resequencing of the whole gene in it subset of the patients, and then by ligase detection reaction some of the polymorphisms identified were typed in the two groups and the respective haplotypes were constructed. The relationships of the typed polymorphisms and the haplotypes with CPP were evaluated by an association study between genotypes and phenotypes. Results: By resequencing, eight polymorphisms were identified, five of which were typed forming IS haplotypes. Although one novel nonsynonymous single nucleotide polymorphism substituting one amino acid in kisspeptin (P110T) wits found to be statistically related to the disease (P=0.025), no further supporting evidence has vet been found. The other polymorphisms and all the haplotypes were not found to be related. Conclusion: The polymorphism scanning and typing of KISS1 uncovered several potentially meaningful polymorphisms. but the conclusion was not solid and further studies are necessary for function validation of these polymorphisms.