DNA polymorphism of the lipoprotein lipase gene and of the apolipoproteins AI, CIII, AIV genes cluster in Egyptian cad patients and in healthy control subjects

Coronary artery disease [CAD] is a major cause of mortality in Egypt. CAD is a multifactorial disorder with both environmental and genetic factors involved in its aetiology and pathogenesis. Dyslipidaemias are among the major risk factors for CAD. Lipoprotein lipase [LPL] gene an apolipoprotein AI-CIII-AIV genes cluster are among the main candidate genes involved in lipid metabolism. The aim of the present study is to determine and detect the frequencies of common DNA polymorphisms of LPL gene and apo AI-CIII-AIV gene cluster in Egyptian CAD patients and healthy control subjects. The study sample included 121 Egyptian male CAD patients and 101 male controls. Mutations and polymorphisms that were previously found to be common in European or Asian populations were chosen to be examined in the current study. These included D9N, N291S, S447X, and Hindlll restriction fragment length polymorphism [RFLP] for LPL gene. Those for the apolipoprotein AI-CIII-AIV genes cluster were: Xmnl RFLP, Al promoter 75G>A, Mspl RFLP, and Pstl RFLP for apo al, Sstl RFLP for apo CIII, and T347S For apo AVI. The N291S and the homozygous pattern of the rare allele of S447X reported in other ethnic groups were not detected in the studied groups. The frequencies of other mutations and polymorphism were reported. Some of these frequencies are comparable with other reported frequencies in the literatures of other ethnic groups. However, there were no statistical significant difference between the CAD patients and the normal males. Failure of the present study to detect significant association between the different polymorphic sites and CAD reflects the complexity of the disease where other environmental and genetic factors may be involved