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Objective  Fatty acid β-oxidation defects can lead to difficulties at covering energy requirement of heart. The carnitine-shuttle is responsible for the transfering of long-chain fatty acids from the internal mitochondrial membrane. The role of genetic variants of the enzymes in the carnitine shuttle in coronary artery disease (CAD) has not been studied. Therefore, we performed a case-control study investigating the possible relation between the  CPTIA -rs3019613 and  CROT -rs2214930 gene variations located carnitine shuttle and CAD risk.    Materials and methods  Study groups were comprised of 96 CAD patients and 85 controls.  CPTIA -rs3019613 G &gt; A and  CROT -rs2214930 T &gt; C polymorphisms were determined by real-time-PCR.    Results  The  CROT -rs2214930-CC genotype was found to be associated with decreased HDL-cholesterol (HDL-C) in controls (p = 0.029). In patients with  CPTIA -rs3019613-A allele, body mass index (BMI) (p = 0.016) and BMI threshold-value (p = 0.030) were found be higher compared to those with GG-genotype, while HDL-C threshold-value (HDL-C ≤ 0.90 mmol/L) was found to be lower (p = 0.015). Regression analysis confirmed  CPTIA -rs3019613-A allele has a significant relationship with decreased HDL-C (p = 0.009) in patients.    Conclusion  Our study indicated that the polymorphisms of the  CROT  and  CPTIA  genes related to β-oxidation of long-chain fatty acids had an important effect on serum HDL-C levels and may be a potential risk for CAD.

Role of SNPs of CPTIA and CROT genes in the carnitine-shuttle in coronary artery disease: a case-control study