Chen Ying, Ren Xianfeng, Li Changgui, Xing Shichao, Fu Zhengju, Yuan Ying, Wang Robin, Wang Yangang, Lv Wenshan
Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, China.
Cell Physiol Biochem. 2015;35(4):1394-400. doi: 10.1159/000373960. Epub 2015 Mar 12.
BACKGROUND &AIM: Previous studies have suggested genetic factors are involved in the development of gout. We performed a case-control study to investigate the genetic association between CARD8 rs2043211 polymorphism and gout.
A total of 396 male patients with gout and 403 age- and sex- matched healthy controls were included in this study. Genotyping was performed using TaqMan SNP Genotyping Assays. An association analysis was carried out using the χ² test. The genotype-phenotype analysis was also conducted.
The genotype distribution of CARD8 rs2043211 polymorphism confirmed to HWE in the controls (P = 0.27). There was an obvious difference in the genotype distribution of CARD8 rs2043211 polymorphism between cases and controls (P = 0.017). In addition, there was an obvious association between CARD8 rs2043211 polymorphism and gout under the recessive comparison model (AA vs.
TT/TA: OR = 0.65, 95%CI 0.47-0.88, P = 0.006). Patients carrying genotype TT of CARD8 rs2043211 polymorphism had higher triglycerides levels compared to those carrying the AA genotype (2.77±2.08 mmol/L vs. 2.07±1.15 mmol/L, P = 0.01). Patients with the TT genotype also had significantly higher systolic blood pressure compared with those with the AA genotype (142.11±21.10 mmHg vs. 135.38±14.66 mmHg, P = 0.03). Patients carrying TT genotype also had an increased risk of renal calculus compared with those carrying the AA genotype.
CARD8 rs2043211 polymorphism is significantly associated with susceptibility to gout in Chinese Han males.
背景与目的：先前的研究表明遗传因素参与痛风的发病过程。我们进行了一项病例对照研究，以调查CARD8基因rs2043211多态性与痛风之间的遗传关联。
本研究共纳入396例男性痛风患者和403例年龄及性别匹配的健康对照。采用TaqMan SNP基因分型检测法进行基因分型。使用χ²检验进行关联分析。同时进行基因型-表型分析。
CARD8基因rs2043211多态性的基因型分布在对照组中符合哈迪-温伯格平衡（P = 0.27）。病例组与对照组之间CARD8基因rs2043211多态性的基因型分布存在明显差异（P = 0.017）。此外，在隐性比较模型下（AA与TT/TA相比），CARD8基因rs2043211多态性与痛风存在明显关联（OR = 0.65，95%CI 0.47 - 0.88，P = 0.006）。携带CARD8基因rs2043211多态性TT基因型的患者甘油三酯水平高于携带AA基因型的患者（2.77±2.08 mmol/L对2.07±1.15 mmol/L，P = 0.01）。TT基因型患者的收缩压也显著高于AA基因型患者（142.11±21.10 mmHg对135.38±14.66 mmHg，P = 0.03）。携带TT基因型的患者患肾结石的风险也高于携带AA基因型的患者。
CARD8基因rs2043211多态性与中国汉族男性痛风易感性显著相关。
