ABCA1基因I883M多态性与心血管疾病的关系

目的探讨ATP结合盒转运子1（ABCA1）基因1883M多态性与广西地区汉族人群心血管疾病的关系。方法采用PCR-RFLP技术对无血缘关系的心血管疾病患者227例（患者组）和非心血管疾病患者162例（对照组）的ABCA1基因1883M位点A→G进行检测，分析其基因多态性与心血管疾病的关系。结果ABCA1基因I883M等位基因频率在对照组中分别为I=0．213和M=0．787，患者组中分别为I=0．335和M=0．665；三种基因型频率在对照组中分别为：II=4．32％（7／162），IM=33．95％（55／162），MM=61．73％（100／162）；患者组中分别为：II=10．57％（24／227），IM=45．81％（104／227），MM=43．61％（99／227），两组等位基因频率和基因型分布比较有显著统计学意义（P均〈0．01）；对照组的突变型（IM＋NM）基因型频率95．68％（155／162）显著高于患者组的89．43％（203／227）（P〈0．05），其中对照组的MM纯合子突变型频率61．73％（100／162）也显著高于患者组的43．61％（99／227）（P〈0．01）。结论ABCA1基因I883M多态性与广西汉族人群的心血管疾病发生有关。

Relationship between the I883 M polymorphism of ATP-binding cassette transporter 1 gene and cardiovascular disease

Objective To investigate the relationship between the I883M polymorphism of ATP-binding cassette transporter 1 （ ABCA1 ） gene and cardiovascular disease in Han population of Guangxi. Methods PCR-RFLP was used to examine ABCA1 gene I883M polymorphism A→G of 227 non-blood-related patients with cardiovascular disease and 162 without cardiovascular disease, comparing the allele frequencies and genotype distributions between the two groups. Results The allele frequencies of ABCA1 gene I883M in control group were as follows ：I = 0. 213 ,M = 0. 787. The genotype frequencies were as follows： II =4.32% （7/162） ,IM =33.95% （55/162） ,Mbl =61.73% （100/162） ;The allele frequencies in the cardiovascular disease group were as follows ： I = 0.335, M = 0.665, and the genotype frequencies were as follows ： II = 10.57% （24/227） ,IM =45.81% （104/227） ,MM =43.61% （99/227） ; There are very significant differences in the frequencies of ABCA1 gene 1883M genotype and alleles between the two groups（ P 〈 0.01 ）. The frequency of mutant type（ IM ＋ MM） in the control group （ 95.68 % ） is higher than that in the cardiovascular disease group （ 89.43 % ） （ P 〈 0.05 ）. The ABCA1 883I haplotype may increase the risk of cardiovascular disease. Conclusions These data suggest that ABCAI gene I883M polymorphisms may be associated with the development of cardiovascular disease in Han population of Guangxi.