国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2017, Vol. 36 ›› Issue (5): 378-381.

• 论著 • 上一篇    下一篇

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

李娟，潘文锋，张春仁，刘利东，马红霞，宋金龙   

  1. 510120 广州医科大学附属第一医院
  • 收稿日期:2017-05-08 修回日期:2017-08-18 出版日期:2017-09-15 发布日期:2017-10-13
  • 通讯作者: 宋金龙，E-mail: chasesjlo721@163.com E-mail:chasesjlo721@163.com
  • 基金资助:
    广东省自然科学基金（2015A030310508）；广州医科大学2014年博士启动项目（2014C29）

Relationship between Gene Polymorphism of C9orf3 and Genetic Susceptibility of Polycystic Ovary Syndrome

LI Juan, PAN Wen-feng, ZHANG Chun-ren, LIU Li-dong, MA Hong-xia, SONG Jin-long   

  1. The First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China
  • Received:2017-05-08 Revised:2017-08-18 Published:2017-09-15 Online:2017-10-13
  • Contact: SONG Jin-long, E-mail: chasesjlo721@163.com E-mail:chasesjlo721@163.com

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摘要： 目的：探讨C9orf3基因多态性（rs3802457）与多囊卵巢综合征（PCOS）患者遗传易感性的关系。方法：收集就诊于广州医科大学附属第一医院的106例PCOS患者与41例健康女性的乙二胺四乙酸（EDTA）抗凝全血，提取核酸后，对C9orf3基因通过聚合酶链反应（PCR）扩增后进行Sanger测序，统计C9orf3基因rs3802457位点的基因多态性，同时对比PCOS组与对照组的临床及血脂生化指标。结果：C9orf3基因rs3802457位点有3种基因型，分别为CC、CT和TT。PCOS组基因型分布频率分别为87.7%、12.3%和0%，对照组分别为68.3%、29.3%和2.4%；PCOS组的C、T等位基因分布频率分别为93.9%和6.1%，对照组分别为82.9%和17.1%；2组基因型和等位基因分布频率比较，差异均有统计学意义（P＜0.05），并且等位基因C在PCOS组中的分布高于对照组，等位基因T低于对照组。PCOS组患者体质量指数（BMI）、腰臀比（WHR）及三酰甘油（TG）水平均高于对照组，差异有统计学意义（P＜0.05）；而2组总胆固醇（TC）、高密度脂蛋白（HDL）和低密度脂蛋白（LDL）水平比较，差异无统计学意义（P＞0.05）。CC基因型PCOS患者HDL水平低于CT基因型PCOS患者，差异有统计学意义（P＜0.05）。结论：C9orf3基因多态位点rs3802457可能与PCOS发病相关。

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

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 TT 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 C9orf3 gene may be involved in the pathogenesis of the PCOS.

Key words: Polycystic ovary syndrome, Polymorphism, genetic, C9orf3 gene, Genetic predisposition to disease