ABCA1基因R219K多态性与宁夏回、汉族脑梗死患者及血脂的关系

The relationship between ABCA1 gene R219K polymorphism in patients with cerebral infarction of Han and Hui population in Ningxia and its association with lipid

目的探讨宁夏回、汉族脑梗死患者与脂质代谢相关基因三磷酸腺苷结合盒转运子（ABCA1）的R219K多态性及血脂的关系。方法入选我院神经内科脑梗死住院患者266例,其中汉族患者185例（汉族脑梗死组）和回族患者81例（回族脑梗死组）。入院后检测血脂等生化指标,用PCR-RFLP方法测定R219K多态性,统计学方法分析酶切结果及其与血脂的关系。结果回、汉族脑梗死组ABCA1基因R219K基因型（RR、RK、KK）及等位基因频率（R、K）分别为28.4%、60.5%、11.1%,58.6%、41.4%;28.1%、46.5%、25.4%,51.4%、48.6%;汉族脑梗死组与回族脑梗死组等位基因频率分布无显著统计学差异（χ^2=1.008,P=0.315）,两组间基因型频率差异有统计学意义（χ^2=7.647,P=0.022）,与RK型比较,回族脑梗死组KK基因型较汉族脑梗死组低（χ^2=7.657,P=0.006）,将两组进行性别、年龄、高血压、糖尿病等因素亚组分析后,仅回族男性、高血压患者KK基因型较汉族脑梗死组低（χ^2=6.725~7.127,P=0.008~0.010）;各基因型间血脂水平无统计学差异（P〉0.05）。结论回、汉族脑梗死患者ABCA1基因的R219K多态性可能存在差异,回族脑梗死患者KK基因型较汉族低,但仅仅是发生在回族男性和高血压患者中,且其发生机制可能与血脂水平无关。

Objective To study the distribution of ATP binding cassette transporter（ABCA1） R219K polymorphism and its association with lipid in patients with cerebral infarction of Han and Hui population in Ningxia.Methods We selected 81 Hui with cerebral infarction in our hospital,and selected 185 Han patients.We determined serum lipids and other biochemical markers,R219K polymorphism were determined by PCR-RFLP.Results The ABCA1 gene R219K genotype frequencies（RR,RK and KK） and allele frequencies（R and K） were 28.4%,60.5%,11.1%,58.6%,41.4% and 28.1%,46.5%,25.4%,51.4%,and 48.6% in Hui and Han separately.The allele frequencies between the two groups was not significant different（χ^2=1.008,P=0.315）.The genotype frequencies of two groups were significantly different（χ^2=7.647,P=0.022）.Compared with RK genotype,KK genotype of Hui in cerebral infarction group was less than that in the Han group（χ^2=7.657,P=0.006）.According to gender,age,hypertension and diabetes of subgroup analysis,it showed KK genotype in men and hypertension of Hui were lower than that in Han patients（χ^2=6.725～7.127,P=0.008～0.010）.The serum lipid levels were no significant difference among the three genotypes（P〈0.05）.Conclusion The ABCA1 gene R219K polymorphism in Hui and Han patients with cerebral infarction could be different.KK genotype in Hui patients was lower than that in Han,but only in men and hypertension,and its mechanism could be independent of lipid levels.