对氧磷酶-1基因多态性与南京地区脑梗死发病风险的关联研究

Correlation of paraoxonase-1 gene polymorphism with cerebral infarction in patients of Nanjing region

目的探讨对氧磷酶-1（paraoxonase 1,PON1）基因多态性位点rs705381、rs854572、rs3735590、rs854571和rs662与南京地区人群脑梗死发病的相关性。方法 Massarray SNP分型技术检测并分析292例脑梗死患者和292例健康人群中上述5个多态性位点的基因型和频率分布;AU5400生化分析仪检测上述人群的常规生化指标;二元非条件Logistic回归模型分析上述位点不同基因型与脑梗死发病风险的相关性。结果血压、空腹血糖（FBG）、三酰甘油（TG）、糖化血红蛋白（Hb A1C）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）、C反应蛋白（CRP）、同型半胱氨酸（Hcy）的表达异常与脑梗死相关（P均0.05）,而脑梗死患者PON1基因rs662位点的CT（52.4%vs 41.44%,P〈0.05,校准OR=1.62,95%CI=1.06~2.49）和CT/TT（65.41%vs 56.16%,P〈0.05,校准OR=1.49,95%CI=1.00-2.25）基因型频率分布明显高于健康人群,但与上述临床指标无明显的相关性。结论 PON1基因rs662位点的多态性可能是南京地区脑梗死发病的遗传易感因素。

Objective To investigate the correlation of paraoxonase-1 （ PON1 ） gene polymorphism, e. g. , rs705381, rs854572, rs3735590, rs854571 and rs662 with cerebral infarction in the patients of Nanjing region. Methods A total of 292 patients with cerebral infarction and 292 healthy controls were enrolled in the study. The genotypes and frequency distributions of 5 locus in PON1 gene were determined by Massarray single nucleotide polymorphisms（SNP） assay, and the relevant biochemical parameters were determined by AU5400 biochemistry analyzer. The correlations of PON1 gene polymorphism with the risk factors of cerebral infarction were analyzed by the bivariate unconditional Logistic regression model. Results The onset of cerebral infarction was related to blood pressure, fasting blood glucose（ FBG）, triglyceride （ TG）, glycosylated hemoglobin （ HbA1C ）, high density lipoprotein cholesterol （ HDL-C ）, low density lipoprotein cholesterol（ LDL-C）, C-reactive protein （CRP） and homocysteine （Hcy） （ P 〈 0.05 ）. There was no significant difference in the genotypic frequency distributions of rs705381, rs854572, rs3735590 and rs854571 in PONI gene between the patients with cerebral infarction and healthy controls（P 〉 0. 05 ）. However, the frequencies of PON1 rs662 CT（52.4% vs 41.44% , P 〈 0.05, adjusted OR = 1.62, 95% CI = 1.06-2.49） and CT/TT（65.41% vs 56.16%, P 〈 0.05, adjusted OR = 1.49, 95% CI = 1.00-2.25 ） genotypes in the patients with cerebral infarction were significantly higher than those in healthy controls. There was no significant correlation between the genotypic frequency distributions of PON1 gene and other biochemical parameters, Conclusion The polymorphism of PON1 rs662 may be the genetic risk factor of cerebral infarction in the patients of Nanjing region.