Lee Sung Won, Lee Shin Seok, Oh Dong Ho, Park Dong Jin, Kim Hyun Sook, Choi Jung Ran, Chae Soo Cheon, Yun Ki Jung, Chung Won Tae, Choe Jung Yoon, Kim Seong Kyu
Division of Rheumatology, Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.
Department of Rheumatology, Chonnam National University Medical School, Gwangju, Korea.
J Korean Med Sci. 2016 Oct;31(10):1566-70. doi: 10.3346/jkms.2016.31.10.1566.
The aim of this study was to determine the association between P2X7R rs3751142 and CARD8 rs2043211 polymorphisms and gout susceptibility in male Korean subjects. This study enrolled a total of 242 male patients with gout and 280 healthy controls. The polymorphisms of two individual genes including rs3751142(C>A) in the P2X7R gene and rs2043211(A>T) in the CARD8 gene were assessed using Taq-Man analysis. Statistical analyses were performed using the Chi-square test, Kruskal-Wallis test, and logistic regression analyses. A difference in genotypic frequency of the P2X7R rs3751142 and CARD8 rs2043211 genes was not detected between gout and control patients. Clinical parameters including age, onset age, disease duration, body mass index, and serum uric acid levels were not different among the three genotypes for either P2X7R or CARD8 (P > 0.05 for all). A pair-wise comparison of P2X7R rs3751142 and CARD8 rs2043211 genotype combinations revealed that subjects with the CA P2X7R rs3751142 genotype and the TT CARD8 rs2043211 genotype had a trend toward a higher risk of gout compared to the CC/AA combination (P = 0.056, OR = 2.618, 95% CI 0.975 - 7.031). In conclusion, this study revealed that genetic variability of the P2X7R rs3751142 and CARD8 rs2043211 genes might, in part, be associated with susceptibility for gout.
本研究旨在确定P2X7R基因rs3751142和CARD8基因rs2043211多态性与韩国男性受试者痛风易感性之间的关联。本研究共纳入242例男性痛风患者和280例健康对照。使用Taq-Man分析法评估P2X7R基因中的rs3751142（C>A）和CARD8基因中的rs2043211（A>T）这两个个体基因的多态性。采用卡方检验、Kruskal-Wallis检验和逻辑回归分析进行统计分析。痛风患者和对照患者之间未检测到P2X7R rs3751142和CARD8 rs2043211基因的基因型频率差异。P2X7R或CARD8的三种基因型之间的临床参数，包括年龄、发病年龄、病程、体重指数和血清尿酸水平均无差异（所有P>0.05）。对P2X7R rs3751142和CARD8 rs2043211基因型组合进行两两比较发现，与CC/AA组合相比，携带CA P2X7R rs3751142基因型和TT CARD8 rs2043211基因型的受试者有痛风风险更高的趋势（P = 0.056，OR = 2.618，95%CI 0.975 - 7.031）。总之，本研究表明P2X7R rs3751142和CARD8 rs2043211基因的遗传变异性可能部分与痛风易感性相关。
