P47phox基因C923T多态性与脑梗死的相关性研究及其对血脂的影响

目的探讨P47^phox基因第10外显子C923T（Ala308Val）多态性与脑梗死的关系及其对血脂的影响。方法采用PCR-单链构象多态技术和DNA直接测序法检测110例脑梗死患者、10个脑梗死家系成员和100名健康对照者的P47^phox基因第10外显子C923T多态性;酶法测定总胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）,免疫比浊法测定apoA-I及apoB100,酶联免疫吸附法测定脂蛋白a血清水平。结果P47^phox基因第10外显子C923T多态存在CC、CT、TF三种基因型,脑梗死组及其各亚组C923T多态基因频率分布与对照组比较差异无统计学意义（P〉0．05）;脑梗死组和对照组CT基因型血清11G水平均明显高于CC基因型（P〈0．05）。结论P47^phox基因C923T多态性可能与脑梗死的易患性无关,但与血脂代谢有一定相关。

The relationship of P47phox C923T (Ala308Val) polymorphism to cerebral infarction and its effect on plasma lipid levels

OBJECTIVE: To investigate the relationship between C923T (Ala308Val) polymorphism in the exon10 of P47(phox) gene and cerebral infarction and to evaluate the effect of C923T polymorphism on plasma lipid levels. METHODS: Peripheral blood samples were collected from 110 patients with cerebral infarction, 100 sex and age-matched healthy controls, and 102 members of 10 cerebral infarction pedigrees 19 of which were cerebral infarction patients. The polymorphism in P47(phox) gene was determined by PCR-single strand conformation polymorphism analysis and DNA sequencing. Plasma lipid levels were measured by routine methods. RESULTS: Three gene types, CC, CT, and TT were found in the C923T (Ala308Val) polymorphism site. No statistically significant differences were found in the frequencies of genotypes and alleles of C923T polymorphism between the controls and cerebral infarction patients (all P > 0.05). The serum levels of triglyceride of cerebral infarction patients and controls with the CT genotype were markedly higher than those of the cerebral infarction patients and controls with the CC genotype (both P < 0.05). CONCLUSION: There is no association between the C923T polymorphism and cerebral infarction. C923Tpolymorphism is associated with plasma lipid metabolism.