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

Aslihan Demircan 1 , Ender Coskunpinar 1 , Deniz Kanca 1 , 2 , Gulcin Ozkara 1 , Fatih Yanar 1 , Ozlem Kurnaz-Gomleksiz 3 , Zehra Bugra 4 , Oguz Ozturk 1  and Hulya Yilmaz Aydoganhttp://orcid.org/https://orcid.org/0000-0002-8837-6664 1
  • 1 Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey
  • 2 Halic University, Faculty of Science and Arts, Department of Molecular Biology and Genetics, Istanbul, Turkey
  • 3 Altinbas University, Faculty of Medicine, Department of Medical Biology, Istanbul, Turkey
  • 4 Istanbul University, Istanbul Faculty of Medicine, Department of Cardiology, Istanbul, Turkey
Aslihan Demircan
  • Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey
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, Ender Coskunpinar
  • Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey
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, Deniz Kanca
  • Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey
  • Halic University, Faculty of Science and Arts, Department of Molecular Biology and Genetics, Istanbul, Turkey
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, Gulcin Ozkara
  • Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey
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, Fatih Yanar
  • Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey
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, Ozlem Kurnaz-Gomleksiz, Zehra Bugra
  • Istanbul University, Istanbul Faculty of Medicine, Department of Cardiology, Istanbul, Turkey
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, Oguz Ozturk
  • Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey
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and Hulya Yilmaz AydoganORCID iD: https://orcid.org/0000-0002-8837-6664

Abstract

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 > A and CROT-rs2214930 T > 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.

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