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Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study

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Almigbal T., Batais M., Hasanato R., Alharbi F., Khan I., Alharbi K.

2018

vol. 65

issue 3

415-420

Familial Hypercholesterolemia (FH) is characterized by elevated cholesterol and based on biochemical, clinical, and genetic studies and FH disease, which was documented even with limited mutations. Earlier studies focused on Apolipoprotein E (ApoE) in variable diseases. The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population. This case-control study was a hospital-based study performed in Saudi Arabia. Two hundred and four subjects in total were recruited and consisted of FH participants (n=104) and the controls (n=100). Common polymorphisms of ApoE gene (rs429358 and rs7412) were chosen and subjected to the genotyping using the TaqMan assay. Moreover, the ApoE risk allele E4 was proved significantly associated with FH cases when compared with controls (OR-2.24 (95%CI: 1.06-4.70); p=0.02). Lipid profile parameters were significantly associated (p<0.05); however, the ApoE alleles and lipid profiles were not correlated (p>0.05). In conclusion, the FH case-control study was associated with the E4 allele in the Saudi population. However, E4 allele was appeared as a reliable risk marker for lipid profiles, but not for ApoE alleles.

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population

100%

Alharbi K., Kashour T., Al-Hussaini W., Nbaheen M., Hasanato R., Mohamed S., Tamimi W., Khan I.

2015

vol. 62

issue 3

559-562

Familial hypercholesterolemia (FH) is caused by genetic defects involving the low density lipoprotein-receptor (LDL-R), predisposing affected people to premature atherosclerotic cardiovascular disease and death. The aim of the present study was to assess certain exons in the LDLR gene mutation detection analysis affecting in the Saudi population with FH. This case-control study was carried out with 200 subjects; 100 were FH cases and 100 were healthy controls. Five mL of venous blood samples were collected from all the subjects and used for biochemical and genetic analysis. DNA was extracted from 2 mL of the EDTA samples, and precise primers were designed for LDL-R gene which includes Exon 3, 4 and 8. PCR was followed by DNA sequencing. In our study, we found 25 mutations in cases in Exon-3 and 2 mutations in controls, however, we have found only 5 mutations in exon 4 and none of the mutations were identified in exon 8. We conclude that screening of FH among Saudi population is very important to identify individuals who are prone to develop the disease.

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2 Acta Biochimica Polonica

1 2018

1 2015

2 Alharbi K.

2 Hasanato R.

2 Khan I.

1 Al-Hussaini W.

1 Alharbi F.

1 Almigbal T.

1 Batais M.

1 Kashour T.

1 Mohamed S.

1 Nbaheen M.

1 Tamimi W.

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Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population