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

¹ State Key Laboratory of Bioreactor Engineering, Institute of Biochemistry, East China University of Science and Technology, 130 Meilong Road, Shanghai 200237, People’s Republic of China, ² Institute of Bioscience and Technology, Donghua University, 1882 West Yan’an Road, Shanghai 200052, People’s Republic of China, ³ Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University, 197 No. 2 Ruijin Road, Shanghai 200025, People’s Republic of China, ⁴ Department of Adolescent Clinic, Harbin Children’s Hospital, 57 Youyi Road, Harbin 150010, People’s Republic of China and ⁵ Department of Endocrinology, Shanghai Jiaotong University Affiliated Children’s Hospital, 1400 West Beijing Road, Shanghai 200040, People’s Republic of China

(Correspondence should be addressed to J Xiao; Email: xiaojunhua{at}dhu.edu.cn)

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: 272 Chinese Han girls diagnosed to be CPP patients were recruited as Case Group I, 43 unrelated African women as Case Group II, 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 a 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 18 haplotypes. Although one novel nonsynonymous single nucleotide polymorphism substituting one amino acid in kisspeptin (P110T) was found to be statistically related to the disease (P = 0.025), no further supporting evidence has yet 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.

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