Аннотация:Familial Hypercholesterolemia (FH) is characterized by elevated cholesterol; this is based on biochemical, clinical, and genetic studies and FH disease, which was documented even with limited mutations. Earlier studies were associated with Apolipoprotein E (ApoE) in variable diseases. The current study aims to investigate the genetic association between FH disease and ApoE gene (rs429358 and rs7412) in the Saudi population. This study has been carried out as a case-control and is a hospital-based study in Saudi Arabia. Two hundred and four subjects were recruited as FH participants (n=104) and the others as controls (n=100). Common polymorphisms (rs429358 and rs7412) were selected from the ApoE gene and we then performed the genotyping as the TaqMan assay. Moreover, the ApoE risk allele E4 is significantly associated in FH cases and controls (OR-2.24 (95%CI: 1.06-4.70); p=0.02). Lipid profile parameters were significantly associated (p<0.05); however, a combination of ApoE alleles and lipid profiles could not find a correlation (p>0.05). The FH case-control study was associated with the E4 allele in the Saudi population. The risk of allele E4 which is a reliable marker for lipid profiles, but did not correlate with ApoE alleles.
