Ghrelin基因多态性与多囊卵巢综合征的相关性

ASSOCIATION OF GHRELIN GENE POLYMORPHISMS WITH POLYCYSTIC OVARY SYNDROME

目的研究Ghrelin基因单核苷酸多态性与多囊卵巢综合征(PCOS)易感性的关系。方法选择PCOS病人230例为PCOS组,选择同期因输卵管因素就诊的月经规则、基础体温双相不孕症妇女163例作为对照组。应用高通量测序技术,对两组样本进行Ghrelin基因rs55821288位点测序,并进行比较。结果两组样本rs55821288位点基因型频率及等位基因频率分布差异均有统计学意义( χ^(2)=4.584、4.337,P<0.05)。加性遗传模型下,PCOS组基因型GG、AA差异有统计学意义(OR=4.025,95%CI=1.331~12.178,P<0.05);隐性遗传模型下,GG基因型增加了PCOS发病风险(OR=3.786,95%CI=1.269~11.295,P<0.05);显性遗传模型下,两组基因型差异无统计学意义(P>0.05)。结论Ghrelin基因rs55821288位点多态性与PCOS的发生有关,等位基因G可能是PCOS的易感基因。

Objective To study the relationship between the single nucleotide polymorphism of the Ghrelin gene and susceptibility to polycystic ovary syndrome(PCOS).Methods A total of 230 PCOS patients were selected as PCOS group,and 163 women with biphasic infertility due to fallopian tube factors as well as regular menstrual cycles and basal body temperature were selected as control group.The rs55821288 locus of the Ghrelin gene was sequenced by high-throughput sequencing and compared between the two groups.Results There were significant differences in the genotype and allele frequencies of rs55821288 between the two groups( χ^(2)=4.584,4.337;P<0.05).In the additive genetic model,significant differences in GG and AA genotypes were observed in the experimental group(OR=4.025,95%CI=1.331-12.178,P<0.05);in the recessive inheritance model,the GG genotype increased the risk of PCOS(OR=3.786,95%CI=1.269-11.295,P<0.05);in the dominant inheritance model,there was no significant difference in genotype between the two groups(P>0.05).Conclusion Ghrelin gene rs55821288 polymorphism is associated with the development of PCOS;G allele may be a susceptibility gene for PCOS.