HINDIII AND S447X POLYMORPHISMS OF LIPOPROTEIN LIPASE GENE AND THEIR RELATIONSHIP TO CORONARY ARTERY DISEASE

Document Type : Original Article

Authors

1 CLINICAL PATHOLOGY AND CARDIOLOGY DEPARTMENTS, FACULTY OF MEDICINE, AIN SHAMS UNIVERSITY, EGYPT

2 CLINICAL PATHOLOGY DEPARTMENT, FACULTY OF MEDICINE, AIN SHAMS UNIVERSITY, EGYPT

3 CARDIOLOGY DEPARTMENT, FACULTY OF MEDICINE, AIN SHAMS UNIVERSITY, EGYPT

Abstract

Coronary artery disease (CAD) is a leading cause of morbidity and
mortality worldwide. Lipoprotein lipase is a key enzyme in lipoprotein
metabolism and its gene is a major candidate gene for coronary heart
disease. The aim of the present work was to study the association of
HindIII and S447X polymorphisms in lipoprotein lipase gene with
coronary artery disease and their impact on lipid metabolism. The
study was conducted on 60 patients with CAD as defined by coronary
angiography in addition to 50 apparently healthy subjects serving as a
control group. Lipoprotein lipase gene polymorphism (HindIII and
S447X) detection was done by polymerase chain reaction– restriction
fragment length polymorphism (PCR- RFLP) technique. The present
study revealed that the studied population was in Hardy- Weinberg
equilibrium (HWE). HindIII polymorphism frequency did not differ
between patients and controls. Meanwhile, the S447X polymorphism
(SX genotype and the X allele) was more frequent in controls as
compared to CAD patients. Carriers of X allele and H-X haplotype
had lower triglyceride levels and higher HDL-C levels as compared to
those with absent X allele and H+S haplotype. Meanwhile H- allele
was not associated with any change in lipid profile. In conclusion, the
S447X polymorphism can be considered as one of the protective
factors against the development of CAD. Meanwhile, HindIII
polymorphism failed to prove any association with CAD.

Keywords

The Egyptian Journal of Biochemistry and Molecular Biology
Volume 34, 1-2
December 2016
Pages 77-90

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