Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case–control study

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 subtilisi...

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Bibliographic Details
Published in:Medicine (Baltimore) 2019-01, Vol.98 (4), p.e14247-e14247
Main Authors: Batais, Mohammed Ali, Almigbal, Turky H., Shaik, Noor Ahmad, Alharbi, Fawaziah Khalaf, Alharbi, Khalid Khalaf, Ali Khan, Imran
Format: Article
Language:English
Subjects:
Adult
Apolipoprotein B-100 - genetics
Arabs - genetics
Case-Control Studies
Female
Gene Frequency
Genotype
Humans
Hyperlipoproteinemia Type II - ethnology
Hyperlipoproteinemia Type II - genetics
Male
Middle Aged
Observational Study
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Saudi Arabia
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Summary: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 
ISSN:0025-7974
1536-5964
DOI:10.1097/MD.0000000000014247