A Single-Nucleotide Polymorphism in C12orf43 Region is Associated with the Risk of Coronary Artery Disease in a Pakistani Cohort.

Coronary artery disease (CAD) is one of the leading public health problems associated with mortality and morbidity in the world. It is a complex disorder influenced by both genetic and environmental factors. Atherosclerosis and elevated levels of plasma cholesterol contribute to increased risk for CAD. Other risk factors include age, hypertension, obesity, diabetes, smoking, and family history. Previous genetic studies have identified multiple polymorphisms in various genes to be associated with the risk of CAD in different populations. We aimed to examine the association of MRAS/rs9818870 and C12orf43/rs2258287 polymorphisms with the risk of CAD in a Pakistani sample. A total of 200 samples (100 cases and 100 controls) was analyzed by Allele-specific PCR. Genotypes were determined by agarose gel electrophoresis. In the current study, locus C12orf43/rs2258287 was found to be associated with the risk of CAD in the studied Pakistani cohort (OR 0.18; CI 0.08-0.37; p = 0.0001) while no association was observed for MRAS/rs9818870 (OR 1.34; CI 0.65-2.76; p = 0.42). In conclusion, the rs2258287 SNP may play an important role in the progression of CAD in the Pakistani subjects. However, future studies should be done on a larger sample size to fully establish its exact role in CAD.

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