国际生殖健康/计划生育杂志2017，Vol.36Issue(5)：378-381,4.
C9orf3基因多态性与多囊卵巢综合征遗传易感性的相关性研究
Relationship between Gene Polymorphism of C9orf3 and Genetic Susceptibility of Polycystic Ovary Syndrome
摘要
Abstract
Objective:To explore the association of the single nucleotide polymorphism (SNP) rs3802457 of C9orf3 gene with polycystic ovarian syndrome (PCOS).Methods:106 women with PCOS (the PCOS group) and 41 healthy females (as the control) were recruited in the first affiliated hospital of Guangzhou Medical University.Genomic DNA was extracted from the EDTA anticoagulants whole blood,and the target C9orf3 gene was amplified by PCR and sequenced by Sanger reactions.The biochemical data of the blood fat and clinical variables were compared between the PCOS group and the control group.Results:There were three kinds of genotypes,including CC,CT and TF in the rs3802457 of the C9orf3 gene.The genotype frequencies of rs3802457 were 87.7％,12.3％ and 0％ in the group of PCOS.Comparably,they were 68.3％,29.3％ and 2.4％ in the control group.The allele frequencies of C and T were 93.9％ and 6.1％ in the PCOS group,and 82.9％ and 17.1％ in the control group,respectively.There were significant differences in the genotype frequencies (P＜0.05) and the allele frequencies (P＜0.05) in the rs3802457 of the C9orf3 gene between the two groups.Body mass index and waist-to-hip in the PCOS group were significantly higher than those in the control group (P＜0.05).No significant differences in the data of biochemistry (total cholesterol/high density lipoprotein/low density lipoprotein) were observed between the two groups (P＞0.05) except for triglyceride (P＜0.05).The HDL level in those PCOS patients with CC genotype was significantly lower than that in PCOS patients with CT genotype (P＜0.05).Conclusions:SNP variant of rs3802457 of C9or3 gene may be involved in the pathogenesis of the PCOS.关键词
多囊卵巢综合征/多态现象,遗传/C9orf3基因/疾病遗传易感性Key words
Polycystic ovary syndrome/Polymorphism, genetic/C9orf3 gene/Genetic predisposition to disease引用本文复制引用
李娟,潘文锋,张春仁,刘利东,马红霞,宋金龙..C9orf3基因多态性与多囊卵巢综合征遗传易感性的相关性研究[J].国际生殖健康/计划生育杂志,2017,36(5):378-381,4.基金项目
广东省自然科学基金(2015A030310508) （2015A030310508）
广州医科大学2014年博士启动项目(2014C29) （2014C29）
