可溶性载体2家族成员9基因的单核苷酸多态性与我国川东北地区汉族人群原发性痛风发病的相关性研究  

Association of the rs10489070 polymorphism of SLC2A9 gene with primary gout in Northeast Sichuanof Chinese Han population

作　　者：李敏[1] 周京国[1] 青玉凤[1] 谢文光[1] 江丹[1] 杨其彬[1] 赵明才[1] 蒋兴亮[2] 曾梅[3] 

机构地区：[1]川北医学院附属医院风湿血液科,南充637000 [2]川北医学院附属医院检验科,南充637000 [3]川北医学院遗传学教研室,南充637000

出　　处：《中华风湿病学杂志》2012年第4期233-238,共6页Chinese Journal of Rheumatology

基　　金：四川省科技攻关项目（2009JY0166）;四川省卫生厅科研基金（070289）

摘　　要：目的探讨SIC2A9（rsl0489070）的单核苷酸多态性与我国川东北地区汉族人群痛风发病及血尿酸水平的相关性。方法采用Taqman探针法检测痛风组（151例原发性痛风患者）和对照组（176名健康体检者）rs10489070（c〉G）位点基因型，分析基因型及等位基因在2组的分布频率，并比较不同基因型实验室指标及临床资料的差异。统计学处理采用t检验X^2检验和（或）Fisher精确概率法。结果rsl0489070（C〉G）位点在所有研究对象的基因型分布均处于Hardy-Weinberg平衡。CC型在痛风组的分布频率显著高于对照组（78．8％和68．8％，P〈0．05），而CG型则低于对照组（19．9％和30．1％，P〈0．05）；等位基因C和G在2组的分布差异无统计学意义（P〉0．05）。有痛风石（14例）与无痛风石（97例）痛风患者基因型分布频率差异有统计学意义（P〈0．05），CG基因型在有痛风石者的分布频率显著低于无痛风石患者（0和22．7％，P〈0．05）。携带CC基因型患者血尿酸及血糖水平均高于未携带CC基因型患者，但差异无统计学意义（p〉0．05）。结论SLC2A9rsl0489070（C〉G）的多态性可能与我国川东北地区汉族人群原发性痛风的易感性相关，携带CC基因型个体更易患痛风，CG基因型则可能对痛风的发病及痛风患者痛风石的形成具有保护作用。Objective To detect the distribution of SLC2A9 rs10489070 polymorphism genotypes in Chinese HaM population, and to explore the association of this gene polymorphism with gout susceptibility, tophi, serum uric acid levels and other clinical and laboratory data. Methods A total of 151 primary gout patients and 176 healthy controls were enrolled into this study. The genotypes and alleles frequencies were calculated by using TaqMan SNP Genotyping Assays and the possible association between gene polymorphism of SLC2A9 and gout was investigated. T test, Chi-square and Fisher exact probabilities were used for statistcal analysis. Results Genotypes distribution were in Hardy Weinberg equilibrium in gout patients and controls （P〉0.05）. The frequency of CC genotype in gout patients was significantly higher than that in the controls （78.8% vs 68.5%, P〈0.05）, aand the frequency of CG genotype in gout patients was significantly lower （19.9% vs 30.1%, P〈0.05）. However, there were no statistical differences in the alleles frequencies of C and G between gout patients and controls （P〉0.05）. Interestingly, there was significant difference in the distribution of genotypes between tophaceous gout patients and non-tophaceous gout patients （P〈0.05）, and the frequency of CG genotype was much lower in tophaceous gout patients （0 vs 22.7%, P〈0.05）. Conclusion Results of present study suggest that rs10489070 polymorphism of the SLC2A9 gene might be associated with gout development. CC genotype predisposes to gout, and CG genotype might protect Chinese HaM populationfrom gout and tophi development.

关 键 词：多态性 单核苷酸 痛风 原发性 SLC2A9 

分 类 号：R589.7[医药卫生—内分泌]