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Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes. Next-generation and exome sequencing studies have primarily involved genome-wide association analyses, and meta-analyses and next-generation studies examined a few single-nucleotide polymorphisms (rs151009667 and Val2095Glu) in the ApoB gene. The present study was conducted to investigate the association of APOB and patients with FH in a Saudi population. We genotyped 100 patients with FH and 100 controls for 2 polymorphisms in APOB using polymerase chain reaction-restriction fragment length polymorphism, followed by 3% agarose gel electrophoresis. The strength of the association between the genotype and allele frequencies with the risk of developing FH was evaluated. Clinical details and genotype analysis results were recorded. For the rs151009667 polymorphism, 18% of the CT genotypes were observed only in patients with FH. There was a positive association between CT and CC (odds ratio [OR] 45.07 [95% conflict of interest (CI), 2.67–759.1]; P = .0001) and between T and C (OR 87.8 [95% CI, 5.34–144.2]; P

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 (p0.05). 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.