Zhong Xiaowu, Peng Yuanhong, Yao Chengjiao, Qing Yufeng, Yang Qibin, Guo Xiaolan, Xie Wenguang, Zhao Mingcai, Cai Xiaoming, Zhou Jing-Guo
Department of Clinical Laboratory, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, P.R. China; Medicine Research Center, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, P.R. China; Department of Laboratory Medicine, North Sichuan Medical College, Nanchong, Sichuan 637007, P.R. China.
Department of Rheumatology and Immunology of the Affiliated Hospital, North Sichuan Medical College, Nanchong, Sichuan 637000, P.R. China.
Biomed Rep. 2016 Oct;5(4):467-472. doi: 10.3892/br.2016.746. Epub 2016 Aug 26.
Gouty arthritis is the most common type of inflammatory and immune disease, and the prevalence and incidence of gout increases annually. Genetic variations in the DNA methyltransferases (DNMTs) gene have not, to the best of our knowledge, been reported to influence gene expression and to participate in the pathogenesis of gout. The aim of the present study was to investigate whether the , and polymorphisms contribute to gout susceptibility. These polymorphisms were screened for in 336 gout patients and 306 healthy control subjects (from a South China population) for association with gout. The distribution frequencies of rs2228611 AA genotype (P=0.007) and A allele (P=0.002; odds ratio=1.508, 95% confidence interval=1.158-1.964) were found to be significantly increased in the gout patients when compared with those in the healthy control subjects. The rs1550117 in and rs2424913 in exhibited no significant associations with gout susceptibility between the patients and control subjects. These results demonstrated that the rs2228611 polymorphism may be involved in the pathogenesis of gout, while rs1550117 and rs2424913 did not show any obvious significance in the current study; thus, may not be used as risk factors to predict the susceptibility to gout. However, further studies are required to investigate the functions and regulatory mechanism of the polymorphisms of in gout.
痛风性关节炎是最常见的炎症和免疫性疾病类型，且痛风的患病率和发病率逐年上升。据我们所知，DNA甲基转移酶（DNMTs）基因的遗传变异尚未被报道会影响基因表达并参与痛风的发病机制。本研究的目的是调查 、 和 的多态性是否与痛风易感性有关。在336例痛风患者和306例健康对照者（来自中国南方人群）中筛查这些多态性与痛风的关联性。与健康对照者相比，发现痛风患者中 rs2228611 AA基因型的分布频率（P = 0.007）和A等位基因的分布频率（P = 0.002；比值比 = 1.508，95%置信区间 = 1.158 - 1.964）显著增加。 中的rs1550117和 中的rs2424913在患者和对照者之间与痛风易感性无显著关联。这些结果表明， rs2228611多态性可能参与痛风的发病机制，而rs1550117和rs2424913在本研究中未显示任何明显意义；因此，可能不能用作预测痛风易感性的危险因素。然而，需要进一步研究来探讨 多态性在痛风中的功能和调控机制。
