Genetic polymorphism analysis of human follicle stimulating hormone receptor in Chinese women

Abstract

Aims: Human follicle stimulating hormone receptor (FSHR) plays an important in regulation of follicular development. Although many studies have been performed on human follicle stimulating hormone receptor (FSHR), the data and a comprehensive searching for genetic polymorphisms of the FSHR gene in Chinese women are rare. The present study was designed to identify the genetic polymorphism of FSHR polymorphisms. Methods: All the exons of FSHR gene in 63 Chinese women undergoing controlled ovarian stimulation for IVF treatment were investigated by direct sequencing. And then the founded polymorphisms were identified in 452 Chinese in the same way. Haploview software (version 4.2) was used to assess Hardy-weinberg equilibrium and linkage disequilibrium and haplotype. Results: A total of 5 different FSHR polymorphisms, including one novel variant (2309T>C), were identified. Three polymorphisms were located in exon 10 and 2 were located in exon 1. In addition, the frequency distribution of rs1394205, rs115030945, rs6165, rs6166, 2309T>C, were (AA: 26.2 %, AG: 49.5 %, GG: 24.3 %), (GG: 99.0 %, GT: 1.0 %, TT: 0 %), (AA: 49.5 %, AG: 42.5 %, GG: 8.0 %), (AA: 55.0 %, AG: 39.4 %, GG: 5.6 %) and (TT: 90.9 %, TC: 9.1 %, CC: 0 %) respectively. And all the frequencies were in Hardy-Weinberg equilibrium (P > 0.05). The allele frequencies of rs6165 and rs6166 in Chinese women were lower than Caucasians. Strong linkage disequilibrium was observed between rs6165 and rs6166, rs6165 (|D'|= 0.937, r2 = 0,722). The haplotype AA was the dominating haplotype with a frequency of 69.6% in Chinese women. Conclusion: This is the first study that systematically screened and identified the polymorphisms of FSHR gene in large Chinese women. Our results will provide important information on FSHR polymorphisms in Chinese women and could be helpful for future personalized medicine study