中国2型糖尿病人群内皮细胞一氧化氮合酶基因多态性与冠心病风险的相关性研究

目的 观察中国2型糖尿病人群中内皮细胞一氧化氮合酶（eNOS）基因多态性位点rs1799983与rs2070744是否与冠心病风险相关.方法 以2005年3月至2010年10月412例2型糖尿病胸痛患者为研究人群,其中266例患有冠心病[男性171例,女性95例,平均年龄（64±9岁）],146例为无冠心病对照[男性67例,女性79例,平均年龄（62±10）岁].选取eNOS的2个单核苷酸多态性（SNPs）：rs1799983（G＞T）和rs2070744（T＞C）.应用聚合酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）技术对eNOS基因SNPs读取个体基因型,采用病例-对照研究的方法,研究eNOS基因多态性与冠心病风险的关系.结果 SNP rs1799983在冠心病组与无冠心病组中T等位基因频率分别为10.4％和9.3％,T等位基因携带者较非携带者冠心病风险有增高趋势（OR=1.214）,但差异无统计学意义（P＞0.05）.SNP rs2070744在冠心病组与无冠心病组中C等位基因频率分别为10.5％和9.4％,C等位基因携带者较非携带者冠心病风险有增加趋势（OR=1.117）,但差异亦无统计学意义（P＞0.05）.校正其他已知冠心病风险因素如性别、年龄、BMI、糖尿病病程、高血压病病史、脂代谢异常病史以及吸烟史后,仍未发现rs1799983和rs2070744与冠心病风险的相关性.结论 在中国2型糖尿病人群中,eNOS基因SNP rs1799983和rs2070744可能不是冠心病的主要风险因子.

Association of genetic variants in endothelial nitric oxide synthase gene with the risk of coronary artery disease in Chinese type 2 diabetics

Objective To investigate the association of the genetic polymorphisms at endothelial nitric oxide synthase (eNOS) locus with the risk of coronary artery disease (CAD) in type 2 diabetics in China.Methods A total of 412 type 2 diabetics with chest pain treated from March 2005 to October 2010were included in this study,of whom 266 individuals with coronary artery disease were enrolled in group CAD ( 171 males and 95 females,average age (64 ±9 )yrs) and 146 cases without CAD were set as controls (67 males and 79 females,average age (62 ± 10 ) yrs). Two haplotype-tagging single nucleotide polymorphisms (SNPs) in eNOS gene were selected: rs1799983 (G ＞ T) and rs2070744 (T ＞ C).Genotypes of the 2 SNPs were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.The frequencies of genotypes and alleles at the loci were compared between the two groups.Results The frequencies of allele T at SNP rs1799983 were 10.4％ in the group CAD and 9.3％ in the controls,respectively.The carriers of allele T at rs1799983 had a tendency with a higher risk of CAD compared to non-carriers ( OR =1.214,but P ＞ 0.05 ).The frequency of allele C at rs2070744 was 10.5％ in the group CAD and 9.4％ in the controls.The carriers of allele C at rs2070744 had a higher risk of CAD compared to non-carriers ( OR =1.117,but P ＞ 0.05 ).No significant associations of the 2 SNPs with CAD risk was found in the studied population even after adjusted for the other known CAD risk factors,such as gender,age,body mass index,course of diabetes,history of hypertension and lipid metabolism disorders.Conclusion It suggests that the rs1799983 and rs2070744 at eNOS locus may not be the key risk factors for CAD in the Chinese patients with type 2 diabetes mellitus.