Association of genetic variants in urotensin Ⅱ gene with polycystic ovary syndrome / 中华内分泌代谢杂志

ABSTRACT

Objective To investigate the correlation of single nucleotide polymorphisms( SNP) of rs228648 and rs2890565 in urotensin Ⅱ (UTS2)gene with polycystic ovary syndrome(PCOS). Methods The genotypes of two SNPs in UTS2 gene were determined through polymerase chain reaction Tin-shift genotyping method. 101 Chinese Han families trios in Shandong Province consisting of fathers,mothers,and affected daughters with PCOS and 105 healthy women were recruited. The physiological and biochemical parameters including serum follicular stimulating hormone(FSH),luteinizing hormone( LH),testosterone,fasting plasma glucose,and insulin were also measured. Results The distributions of three genotypes and two alleles of SNP rs228648 in UTS2 gene were similar between PCOS group and control group. The distributions of genotypes of SNP rs2890565 in UTS2 gene differed significantly between PCOS group and control group (P<0. 05). The frequency of A allele of SNP rs2890565 in UTS2 gene was significantly higher in PCOS group than that in control group( P<0.05). Transmission disequilibrium test(TDT) did not show significantly biased transmission of two different alleles from parents to affected daughters at rs228648 locus (P>0. 05) ,but showed an excess transmission of A allele from heterozygous parents to affected offspring at rs2890565 locus (P<0. 05). The carriers with GG genotype of SNP rs228648 had significantly higher HOMA-IR compared to those with AA and AG genotypes. The carriers with AA or AG genotype of SNP rs2890565 had significantly higher fasting plasma glucose and fasting insulin compared to those with GG genotypes. HOMA-IR in cases with AA genotype was significantly higher than that with GG genotype. Conclusions There is no association of SNP rs228648 with PCOS, but exists association with insulin resistance. The genetic polymorphism of UTS2 gene rs2890565 may be associated with PCOS,and the higher frequency of A allele is likely to contribute to PCOS.