冠心病患者脂肪酸结合蛋白的基因多态性

Polymorphism of the fatty acid-binding protein 2 gene in patients with coronary heart disease

目的研究脂肪酸结合蛋白基因（FABP2）编码区exon2第54位密码子的多态性与冠心病的相关性。方法采用随机化同期平行病例一对照试验，冠心病组86例，正常对照组90例。应用聚合酶链反应（PCR）技术检测176例样本FABP2基因Hae—Ⅱ酶切位点的多态性。结果（1）样本人群的FABP2基因编码区exon2第54位密码子存在Hae—Ⅱ酶切位点．可产生多态性片段：野生型FABP2Ala54／Ala54；杂合变异型FABP2Ala54/Thr54；纯合变异型Thr54/Thr54。（2）冠心病组变异型FABP2Ala54/Trhr54及Thr54/Thr54基因型频率显著高于正常对照组（P=0．017）。（3）与野生型基因携带者相比，冠心病组FABP2Ala54/Thr54及Thr54/Thr54基因携带者的OR值为2．16（95％CI，1．03—3．54）结论（1）所研究的样本人群存在FABP2基因多态性；（2）FABP2基因多态性可能是涉及冠心病发生的遗传易感因素。（3）FABP2基因多态性可能是冠心病患者脂质代谢异常的影响因素之一。

Objective To investigate the association between the polymorphism of codon-54 of the fatty acid binding protein gene（FABP2） and patients with coronary heart disease. Methods The Ala54Thr variation of FABP2 was detected by PCR and Hae-Ⅱ digestion in 176 Chinese subjects, including 86 cases of coronary heart disease and 90 cases of normal controls. Results （1） The polymorphism restriction site of codon-54 of FABP2 gene results in the substitution of threonine（Thr） for alanine（Ala）. （2） The frequence of genotype Ala54/Thr54 and Thr54/Thr54 significiantly increased in the coronary heart disease as compared with that in healthy subjects （P=-0.017）. （3） The odds ratio of FABP2 genotype AlaS4/ Thr54 and Thr54/Thr54 for the patients with coronary heart disease was 2.16 （95% confidence intervals is 1.03-3.54）. Conclusion （ 1 ）The sample is in existence of FABP2 polymorphism. （2）FABP2 gene polymorphism seems to be significantly associated with coronary heart disease. （3）FABP2 polymorphism may have a certain contribution to the abnormity of lipoprotein metabolism in coronary heart disease individuals.