SUM04基因多态性与冠心病及2型糖尿病合并冠心病的关系

Association between SUM04 polymorphisms and coronary artery disease with and without type 2 diabetes mellitus

目的探讨北京地区汉族人群小泛素样修饰蛋白4（small ubiquitin-like modifier4，SUM04）基因多态性与冠状动脉粥样硬化性心脏病（coronary artery disease，CAD）及2型糖尿病（type2 diabetes mellitus，T2DM）合并CAD的关系。方法采用病例对照设计，人选369例单纯CAD患者（CAD组）、189例2型糖尿病合并CAD患者（T2DM-4-CAD组）及500名健康个体（对照组）。应用聚合酶链反应一高分辨熔解曲线技术结合测序验证法，检测SUM04基因rs237025、rs237024及rs6007393个单核苷酸多态性（single nucleotide polymorphisms，SNPs）位点的基因型与等位基因在3组间的分布，并通过分层分析比较SNPs不同基因型携带者的临床相关危险因素的差异。结果3个SNPs的等位基因和基因型在3组间的分布差异无统计学意义（P〉0．05）；通过分层分析，在T2DM4-CAD组发现rs237025各基因型携带者的甘油三酯水平、rs600739各基因型携带者的体重指数水平的差异有统计学意义（P值分别为0．020和0．049），但组间多重比较仅发现rs237025的GG基因型携带者较GA及AA基因型携带者具有更高的甘油三酯水平（P〈0．01）。结论SUMO4基因多态性可能与北京地区汉族人群伴或不伴T2DM的CAD易感性无关。

Objective To assess the role of small ubiquitin-like modifier 4 （SUM04）gene polymorphisms （rs237025,rs237024 and rs600739） in the susceptibility to coronary artery disease （CAD） with and without type 2 diabetes mellitus （T2DM） in Chinese Han ethnic population in Beijing. Methods In this case-control study, 558 subjects with angiography-proven CAD were divided into two groups according to the WHO 1999 criteria： 369 with normal glucose tolerance （CAD group） and 189 with T2DM （T2DM＋CAD group）. Meanwhile 500 healthy subjects free of T2DM and CAD were selected as normal controls （control group）. Allelic and genotypic distributions of the three single nucleotide polymorphisms （SNPs） were determined with polymerase chain reaction-high resolution melting curve （PCR-HRM） and gene sequencing. Clinical and biochemical data were compared among carriers of different genotypes through a stratified analysis. Results No significant difference was found in the distribution of genotypes and alleles of each SNP between different groups （P〈0.05）. Nevertheless, stratified analysis indicated a significant difference in plasma triglycerides （rs237025） and body mass index （rs600739） among individuals of different genotypes from the T2DM＋CAD group （P=0. 020 and P=0. 049, respectively）. Multiple comparison also indicated that GG genotype of rs237025 had a higher level of plasma triglycerides than AA genotype （P〈 0.01）, Conclusion No association between SUM04 gene polymorphisms and CAD with and without T2DM was detected. Such polymorphisms may not be a risk factor for Chinese Han ethnic patients in Beijing.