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目的观察T2DM人群细胞周期蛋白依赖激酶抑制基因2A/B(CDKN2A/B)基因多态性是否与冠心病风险相关,以早期筛查DM人群中冠心病的高危人群。方法对我院因胸痛症状行冠脉造影或冠脉CT检查的T2DM患者,根据冠脉造影或冠脉CT结果分为冠心病组及非冠心病组。冠心病组共220例,非冠心病组共89例。根据Hapmap数据库选取CDKN2A/B共7个单倍型标记的单核苷酸多态性(SNP):CDKN2A rs2811708(G>T)、rs3088440(A>G)和rs3731239(C>T),CDKN2B rs3217986(A>C)、rs1063192(C>T)、rs2285327(A>G)和rs3217992(A>G)。对所有个体进行PCR扩增并通过RFLP或基因测序方法读取个体的基因型。结果在T2DM人群中,冠心病组中CDKN2A rs2811708的次要等位基因T频率(26.4%)显著高于非冠心病组(17.4%)(P<0.05),基因型分布在两组间存在显著性差异(P<0.05),G/T基因型携带者较G/G基因型携带者发生冠心病的风险显著增加(P<0.05),在校正心血管其他风险因素(如性别、年龄、BMI、DM病程、高血压病病史、脂代谢异常病史、吸烟史)后,这种相关性仍然存在(P<0.01)。结论 T2DM人群中,CDKN2A/B基因单核苷酸多态性可能与冠心病的风险相关。
Objective To investigate whether the polymorphism of cyclin-dependent kinase 2 (CDKN2A / B) gene in T2DM is associated with the risk of coronary heart disease (CHD) and to screen early-stage coronary heart disease in DM population. Methods T2DM patients who underwent coronary angiography or coronary CT scan due to chest pain were divided into coronary heart disease group and non-coronary heart disease group according to coronary angiography or coronary CT findings. Coronary heart disease group a total of 220 cases, non-coronary heart disease group a total of 89 cases. According to the Hapmap database, a total of seven haplotype single nucleotide polymorphisms (SNP) of CDKN2A / B were selected: CDKN2A rs2811708 (G> T), rs3088440 (A> G) and rs3731239 (C> T), CDKN2B rs3217986 (A> C), rs1063192 (C> T), rs2285327 (A> G) and rs3217992 (A> G). All individuals are PCR-amplified and the individual’s genotypes are read by RFLP or gene sequencing methods. Results In T2DM population, the T allele frequency (26.4%) of CDKN2A rs2811708 in CHD group was significantly higher than that in non-CHD group (17.4%) (P <0.05). The distribution of genotypes was significantly different between the two groups (P <0.05). The risk of coronary heart disease in G / T genotype carriers was significantly higher than that in G / G genotype carriers (P <0.05), and other risk factors such as gender, age, BMI , DM course, history of hypertension, history of abnormal lipid metabolism, smoking history), this correlation still exists (P <0.01). Conclusions Single nucleotide polymorphism of CDKN2A / B gene in T2DM may be related to the risk of coronary heart disease.