Sun Ying, Yuan Yi, Yang Hua, Li Jingjie, Feng Tian, Ouyang Yongri, Jin Tianbo, Liu Ming
Northwest University School of Life Sciences, Xi'an, China, Phone: +86-29-88302831 E-mail:
J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):405-410. doi: 10.4274/jcrpe.2784. Epub 2016 May 23.
Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies affecting 5-7% of reproductive age women worldwide. The aim of our study was to explore the PCOS-related single nucleotide polymorphism (SNP) associations between common genetic variants and PCOS risk in a Han Chinese women population.
In this case-control study, 285 Chinese Han women aged 28.50±6.858 years with PCOS and 299 controls of a mean age of 32.66±7.018 years were compared. We selected recently published genome-wide association studies (GWAS) which identified several genetic loci in PCOS. All the SNPs were genotyped by Sequenom Mass-ARRAY technology. Associations between the gene and the risk of PCOS were tested using various genetic models by Statistical Package for the Social Sciences and Plink.
We found that rs705702 in the RAB5B/SUOX was associated with PCOS (odds ratio=1.42; 95% confidence interval=1.08-1.87, p=0.011) and increased the PCOS risk. The genotypic model analysis also showed that rs705702 was associated with PCOS risk.
Our results suggest that SNPs rs705702 in gene RAB5B/SUOX was associated with PCOS in Han Chinese women.
多囊卵巢综合征（PCOS）是最常见的内分泌疾病之一，影响着全球5%-7%的育龄妇女。我们研究的目的是在汉族女性人群中探索常见基因变异与PCOS风险之间与PCOS相关的单核苷酸多态性（SNP）关联。
在这项病例对照研究中，比较了285名年龄为28.50±6.858岁的中国汉族PCOS女性和299名平均年龄为32.66±7.018岁的对照。我们选择了最近发表的全基因组关联研究（GWAS），这些研究确定了PCOS中的几个基因位点。所有SNP均通过Sequenom Mass-ARRAY技术进行基因分型。使用社会科学统计软件包和Plink通过各种遗传模型测试基因与PCOS风险之间的关联。
我们发现RAB5B/SUOX中的rs705702与PCOS相关（优势比=1.42；95%置信区间=1.08-1.87，p=0.011），并增加了PCOS风险。基因型模型分析也表明rs705702与PCOS风险相关。
我们的结果表明，基因RAB5B/SUOX中的SNP rs705702与汉族女性的PCOS相关。
