B族Ⅰ型清道夫受体基因外显子1多态性与冠心病、血脂水平的关系
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天津市卫生局科技基金资助项目(09ky31)


The Relationship Between Scavenger Receptor Class B Type Ⅰ Polymorphisms with Blood Lipid and Coronary Heart Disease
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    摘要:

    目的 探讨B族Ⅰ型清道夫受体(SR-BⅠ)基因外显子1和内含子5单核苷酸多态性对中国天津地区汉族人群血脂水平和冠心病发病易感性的影响。方法 应用聚合酶链反应-限制性片段长度多态性分析方法,测定370例冠心病患者和143例正常对照者SR-BⅠ基因外显子1的AluI酶切基因型及内含子5的ApaI酶切基因型,分析其与血脂水平、冠心病及冠状动脉造影结果的关系。结果 两组研究对象中内含子5均仅发现CC基因型。SR-BⅠ外显子1等位基因G、A频率在冠心病组和对照组分别为0.988、0.012和0.997、0.003。基因型分布符合Hardy-Weinberg平衡定律。外显子1 AluI酶切多态性基因型频率、等位基因频率组间比较均无显著性差异(P>0.05)。在冠心病组男性患者中,外显子1基因多态性变异组(GA+AA基因型亚组)的血清高密度脂蛋白胆固醇和载脂蛋白AⅠ水平高于无变异组(GG基因型亚组)。结论 SR-BⅠ基因外显子1多态性可能与中国天津汉族人群冠心病发病易感性及冠心病病变严重程度无关,但冠心病患者SR-BⅠ基因外显子1 A等位基因可引起男性血清高密度脂蛋白胆固醇和载脂蛋白AⅠ水平升高。

    Abstract:

    Aim To investigate the relationship among scavenger receptor class B type Ⅰ (SR-BⅠ) single gene polymorphisms (exon 1 and intron 5), the risk of coronary heart disease (CHD) and blood lipid concentration in Tianjin Han Chinese population. Methods SR-BⅠ exon 1 and intron 5 polymorphisms were genotyped in 370 CHD patients and 143 healthy adults undergoing coronary angiography by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The concentrations of blood lipid were examined in all subjects. Results Intron 5 genotype was similar between two groups. SR-BⅠ exon 1 allelic frequencies of G and A were 0.988, 0.012 and 0.997, 0.003 in CHD and control groups respectively. There was no significant difference between the distribution of AluI polymorphism and the allele frequency in CHD and control groups (P>0.05). Serum levels of high density lipoprotein cholesterol (HDLC) and apolipoprotein AⅠ (ApoAⅠ) in the GA+AA genotype subgroup was significantly higher than in GG genotype subgroup among CHD group male subjects (P<0.05). Conclusion The exon 1 polymorphism of SR-BⅠ gene may not be associated with susceptibility to CHD and severity degrees of coronary lesions in Tianjin Han Chinese population, but A allele of SR-BⅠ exon 1 can lead to the elevated HDLC and ApoAⅠ concentration in male CHD patients.

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任 宁,郭绪昆,刘玉洁,畅晓燕,丛洪良. B族Ⅰ型清道夫受体基因外显子1多态性与冠心病、血脂水平的关系[J].中国动脉硬化杂志,2014,22(8):817~822.

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  • 收稿日期:2013-10-22
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