论文部分内容阅读
目的:在汉族老年群体中探讨内皮型一氧化氮合酶(eNOS)基因4b/a和T786C多态性与颈动脉粥样硬化(CAS)的关联性。方法:选择接受颈动脉超声检查的汉族老年患者521例,根据超声检查结果分为CAS组266例和对照组255例。分别用PCR和PCR-RFLP方法分析4b/a和T786C多态性的基因型,同时对所有对象检验血脂等危险因素。结果:两个多态性处于连锁不平衡(LD)。两个多态性的基因型和等位基因分布在CAS组和对照组间均差异无统计学意义(均P>0.05)。在调整性别和年龄等多个CAS常见危险因素的前后,两个多态性各基因型与CAS的关联均差异无统计学意义(均P>0.05)。单体型分析发现,对常见危险因素进行调整后,单体型4a-T与CAS的关联差异有统计学意义(OR=2.86,95%CI=1.11～7.40,P=0.030)。结论:在所研究的汉族老年人群中未发现eNOS基因4b/a或T786C多态性单独与CAS相关联,但二者构成的单体型4a-T可能是汉族老年群体发生CAS的独立易感遗传标记。
Objective: To investigate the association of endothelial nitric oxide synthase (eNOS) gene 4b / a and T786C polymorphisms with carotid atherosclerosis (CAS) in Han Chinese elderly population. Methods: A total of 521 Han elderly patients undergoing carotid ultrasonography were selected and divided into CAS group (266 cases) and control group (255 cases) according to the result of ultrasound examination. The genotypes of 4b / a and T786C polymorphisms were analyzed by PCR and PCR-RFLP respectively. All subjects were also tested for risk factors such as blood lipids. Results: The two polymorphisms are in linkage disequilibrium (LD). The genotype and allele distribution of the two polymorphisms were not significantly different between the CAS group and the control group (all P> 0.05). There were no significant differences in the association of genotypes and CAS between the two polymorphisms before and after adjusting for the common risk factors of CAS such as gender and age (all P> 0.05). Haplotype analysis found that the association of haplotype 4a-T with CAS was statistically significant (OR = 2.86, 95% CI = 1.11-7.40, P = 0.030) after adjusting for common risk factors. CONCLUSION: In our study, we found no association between eNOS gene 4b / a polymorphism and T786C polymorphism in CAS alone. However, the haplotypes 4a-T of the two groups may be independently susceptible to CAS in Han elderly population Genetic markers.