Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
Clin Biochem. 2011 Jun;44(8-9):618-22. doi: 10.1016/j.clinbiochem.2011.02.013. Epub 2011 Mar 4.
The resistin gene (RETN) -420C>G and +299G>A polymorphism was investigated in a case-control study from forty complex Pakistani families with coronary artery disease (CAD) history. Heritability of the susceptible/variant alleles was investigated from parent-offspring trios in these families.
Resistin levels were determined from 239 individuals by enzyme-linked immunosorbent assay. Genotyping was performed using polymerase chain reaction and restriction fragment length polymorphism.
Elevated resistin levels were observed from CAD cases vs. controls (p<0.0001). The RETN -420C>G and +299G>A polymorphism was more prevalent in cases vs. controls (p<0.0001). The transmission disequilibrium test revealed a significant association of the -420 and +299 polymorphism with CAD (χ(2)=34.4, p<0.0001 and χ(2)=31.6, p<0.0001, respectively).
Elevated resistin, and the RETN -420C>G and +299G>A polymorphism may contribute to familial CAD. The -420 and +299 variant alleles are transmitted more frequently from parent to affected offspring. This is the first report on the association of the RETN +299G>A polymorphism with CAD.
在一个来自有冠心病（CAD）病史的四十个复杂巴基斯坦家族的病例对照研究中，研究抵抗素基因（RETN）-420C>G 和 +299G>A 多态性。在这些家族的父母-子女三体型中，研究了易感/变异等位基因的遗传性。
通过酶联免疫吸附试验从 239 个人中确定抵抗素水平。通过聚合酶链反应和限制性片段长度多态性进行基因分型。
与对照组相比，CAD 病例的抵抗素水平升高（p<0.0001）。RETN -420C>G 和 +299G>A 多态性在病例中比对照组更常见（p<0.0001）。传递不平衡检验显示 -420 和 +299 多态性与 CAD 之间存在显著关联（χ(2)=34.4，p<0.0001 和 χ(2)=31.6，p<0.0001）。
抵抗素水平升高，以及 RETN -420C>G 和 +299G>A 多态性可能导致家族性 CAD。-420 和 +299 变异等位基因更频繁地从父母传递给受影响的子女。这是关于 RETN +299G>A 多态性与 CAD 关联的首次报道。
