E-选择素基因多态性与冠心病相关性研究

目的：探讨E-选择素基因多态性与中国人群冠心病发病的关系。方法：93例年龄≤60岁的冠心病患者和97例年龄性别匹配的非冠心病对照者，运用聚合酶链式反应-单链构象多态性(PCR—SSCP)和直接测序技术对E-选择素基因全部外显子及其两翼的部分内含子进行筛查。结果：发现3个E-选择素基因多态性：2号外显子5’非翻译区存在G98→T所致的G98T多态性(G／T等位基因)；4号外显子EGF结构域中仔在A561→C所致的Sel128Arg多态性(A／C等位基因)；11号外显子膜结构域中存在一个新的A1856→G所致的A1856G多态性(A／G等位基因)。在冠心病组中，T和C等位基因频率显著高于对照组(P=0．01，P=0．03)。结论：T和C等位基因可能是中国人群中年龄≤60岁冠心病患者的遗传危险因素。

Association Between E-Selectin Gene Polymorphisms and Coronary Heart Disease

Objective To search for DNA polymorphisms in the E - selectin gene and examine association of genetic polymorphisms with coronary heart disease (CHD) in Chinese population. Methods Ninty -three CHD patients aged 60 years or less were studied and ninty - seven age - and sex - matched subjects with normal angiograms were recruited as controls. The entire exons including intron/exon boundaries were screened for E - selectin gene polymophisms by PCR - SSCP ( single - strand conformation polymorphisms) , followed by direct sequencing for confirmation. Results Three polymorphisms were found in the E - selectin gene: (1) the G98 to T substitution (G98T) in the 5' untranslated region of exon 2 ( G/T allele) ; (2) the A561 to C substitution (Serl28Arg) in the EGF domain of exon 4 (A/C allele) ; and (3) a novel A1856 to G substitution (A1856G) in the membrane domain of exon 11 (A/G allele). Frequencies of T and C al-leles were significantly higher in CHD patients than those in the control subjects ( P =0.01 and P - 0. 03 ). Conclusion The E - selectin gene T and C alleles might be genetic risk factors for Chinese CHD patients aged 60 years or less.