晚期糖基化终产物受体基因多态性与冠状动脉狭窄程度相关性的研究

Polymorphisms of RAGE gene associates with degree of coronary artery stenosis in the Chinese Han population

目的:探讨晚期糖基化终产物受体(RAGE)基因多态性对中国汉族人群冠状动脉(冠脉)病变狭窄程度的影响。方法:应用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测109例冠脉轻中度狭窄(mild/moderate coronary stenosis,MCS)患者、134例重度狭窄(serious coronary stenosis,SCS)患者和170例健康对照者的RAGE基因3种多态性(-429T/C、1704G/T和G82S)基因型。结果:RAGE基因G82S多态性的S等位基因在SCS组的分布显著高于对照组(27.6%vs 13.2%,OR值为2.086,95%CI为1.494～2.914,P<0.001,Pcorr<0.003),而MCS组与对照组、MCS组与SCS组间差异无统计学意义(P>0.05,Pcorr=0.069);多变量Logistic回归分析提示与单倍体型T-Gly-T相比,单倍体型G-Ser-T发生冠脉SCS的危险显著增加(OR值为1.961,95%CI为1.150～3.343,P=0.013)。其余2种多态性(-429T/C和1704G/T)的基因型及等位基因频率分布在各组间差异无统计学意义(P>0.05)。结论:携带有RAGE基因G82S多态性的单倍体型发生冠脉SCS的危险性显著增加,提示该单倍体型与冠脉SCS的发生呈明显相关性。

Objective：To investigate whether polymorphisms of the RAGE gene were associated with the degree of coronary artery stenosis Chinese Han patients.Method：The allele frequencies and genotype distribution combinations of the-429T/C,1704G/T and G82S polymorphisms of the RAGE gene were compared in 109 cases of mild/moderate coronary stenosis（MCS）,134 cases of serious coronary stenosis（SCS） and 170 control subjects.PCR-RFLP was used for detection of genotypic variants.Result：The S allele frequency of the G82S polymorphism was higher in the SCS（odds ratio ,2.086;95% CI,1.494～2.914;P0.001,Pcorr0.003） group when compared with the control group.However,the S allele frequency was not significantly different between the MCS and the SCS patient groups（P0.05,Pcorr=0.069）,and there was no significant difference of allele frequency distributions was observed in the MCS group（P=0.075）.Haplotype-based logistic regression analysis revealed that haplotype G-Ser-T（OR,1.961;95% CI,1.150～3.343;P=0.013）,compared to the reference haplotype T-Gly-T,was associated with an increased risk of SCS after adjusting for other risk factors.Conclusion：The haplotype carrying the G82S variant of the RAGE gene was significantly associated with an increased risk of SCS.