DNA多态性在两个paraoxonase基因(PON1和PON2)与冠心病的风险。
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桑赫拉DK,阿斯顿CE、萨哈N, Kamboh MI
DNA多态性在两个paraoxonase基因(PON1和PON2)与冠心病的风险。
J哼麝猫。1998年1月,62 (1):36-44。
- PubMed ID
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9443862 (在PubMed]
- 文摘
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共同多态性在密码子192年人类paraoxonase(其)1基因已被证明是与风险增加有关高加索人群的冠心病(CHD)。然而,这些发现还没有报道持续在所有白人和白人人口,这表明这不是一个功能性突变但可能标志着功能性突变出现在PON1或附近的一个基因。最近,另外两个PON-like基因,指定“PON2”和“PON3”,已确定,并与已知PON1 7号染色体上的基因。识别额外的多态性PON-gene集群有助于定位功能多态性。在这个报告中,我们描述一个共同多态性的存在在密码子311(半胱氨酸- - > Ser;PON2 PON2基因*年代),以及其与冠心病和结合PON1 192密码子多态性在亚洲印度人。PON2 * S等位基因的频率明显高于比在控制(在这种情况下。71与点;P = .016)。的年龄和sex-adjusted比值比(或)为2.5(95%置信区间&sqbl0; 95% CI&sqbr0; = 1.8 - -3.1;P = .0090) PON2 * S等位基因携带者。 Further stratification of the PON2*S association, on the basis of the presence or absence of the PON1*B allele, showed that the CHD risk associated with the PON2*S allele was confined to PON1*B-allele carriers. Likewise, the PON1*B-allele risk was present only among PON2*S carriers. Age- and sex-adjusted ORs for the PON2*S and PON1*B were 3.6 (95% CI=2.6-4.6; P=.011) and 2.9 (95% CI=2.4-3.5; P=.0002) among the PON1*B and PON2*S carriers, respectively. Our data indicate that both polymorphisms synergistically contribute to the CHD risk in this sample and that this genetic risk is independent of the conventional plasma lipid profile.