纤维蛋白原Bβ链基因启动区2个多态位点与冠心病的相关性

Association of two polymorphisms in the fibrinogen Bβ gene 5′ promoter region with plasma levels and coronary artery disease susceptibility in Chinese population

目的研究纤维蛋白原(Fg)Bβ链基因启动区上游-148C/T及-455G/A多态性位点与冠心病(CAD)及血浆Fg水平的相关性。方法90例CAD患者及年龄、性别相匹配的115例正常对照者,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测FgBβ-148C/T及-455G/A基因型,比较两组基因型及等位基因频率分布及不同基因型间血浆Fg水平。结果CAD组-148CC基因型频率较对照组减少;而CT及TT基因型较对照组增加;CAD组C等位基因频率为70.56%,对照组为86.09%(P<0.01)。而-455G/A多态位点频率在两组间无显著差异。-148C/T及-455G/A多态性位点均影响CAD组及对照组血浆Fg水平,但对冠脉受累支数无影响。结论FgBβ-148C/T多态性与中国人群CAD及血浆Fg水平相关,T等位基因可能是中国人群CAD的遗传易患因子。

Objective To detect the association of -148C/T and-455G/A polymorphisms in the fibrinogen （Fg） Bβ gene 5＇ promoter region with plasma levels and coronary artery disease（CAD） susceptibility in Chinese population. Methods Fg Bβ genotypes of 90 cases of CAD and 115 cases of control were detected by PCR-RFLP and plasma Fg levels were measured. Genotypes and alleles frequencies between the two groups, and plasma Fg levels with different genotypes were compared. Results The frequencies of CC genotype in CAD group were lower and CT, TT genotypes were higher than those in control subjects（P〈0.01）. The frequencies of C allele （70.56%） were lower and T allele （29. 44%） were higher in CAD group than those in control subjects（86. 09% and 13.91%, respectively） （P〈0.01）. There was no significant difference of -455G/A polymorphism between CAD and control groups. The subjects with T allele and G allele had increased plasma Fg levels in both CAD and control groups. Conclusion -148C/T polymorphism in Fg Bβ gene is associated with CAD and increased plasma Fg levels. T allele is probably a genetic marker of CAD in the Chinese.