Abstract

Objective The resistin gene (RETN) −420 C > G and + 299 G > 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. Method Resistin levels were determined from 239 individuals by enzyme-linked immunosorbent assay. Genotyping was performed using polymerase chain reaction and restriction fragment length polymorphism. Results Elevated resistin levels were observed from CAD cases vs. controls ( p < 0.0001). The RETN − 420 C > G and + 299 G > 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). Conclusion Elevated resistin, and the RETN −420 C > G and + 299 G > 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 + 299 G > A polymorphism with CAD.

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