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Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant condition characterized by abnormal levels of low-density lipoprotein (LDL) in the blood. FH is a risk factor for atherosclerosis and cardiovascular disease. The relationship between the paraoxonase 1 (PON1) gene, atherosclerosi...

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Autores principales: Alharbi, Khalid Khalaf, Alnbaheen, May Salem, Alharbi, Fawiziah Khalaf, Hasanato, Rana M., Khan, Imran Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074118/
https://www.ncbi.nlm.nih.gov/pubmed/29229890
http://dx.doi.org/10.5144/0256-4947.2017.425
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author Alharbi, Khalid Khalaf
Alnbaheen, May Salem
Alharbi, Fawiziah Khalaf
Hasanato, Rana M.
Khan, Imran Ali
author_facet Alharbi, Khalid Khalaf
Alnbaheen, May Salem
Alharbi, Fawiziah Khalaf
Hasanato, Rana M.
Khan, Imran Ali
author_sort Alharbi, Khalid Khalaf
collection PubMed
description BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant condition characterized by abnormal levels of low-density lipoprotein (LDL) in the blood. FH is a risk factor for atherosclerosis and cardiovascular disease. The relationship between the paraoxonase 1 (PON1) gene, atherosclerosis and coronary artery disease has not been studied in Saudi patients. OBJECTIVE: To investigate the genetic associations of the Q192R polymorphism in the PON1 gene with FH in Saudi patients. DESIGN: Case-control study. SETTING: Tertiary care center, Riyadh. METHODS: Two hundred Saudi patients were enrolled in this study, including 100 patients with FH and 100 healthy controls, during the period from January 2012 to March 2013. Serum was separated from coagulated blood (3 mL) and used for analysis of lipid profiles. Genomic DNA was isolated from anticoagulant-treated blood (2 mL). Genotyping for the Q192R polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism analysis, followed by 3% agarose gel electrophoresis. MAIN OUTCOME MEASURE: The strength of association between the Q192R polymorphism and FH in the Saudi population. RESULTS: We confirmed that QR versus QQ (odds ratio [OR]: 1.55; 95% confidence interval [CI]: 1.05–3.43; P=.03), QR+RR versus QQ (OR: 1.98; 95% CI: 1.13–3.49; P=.01), and R versus Q (OR: 1.68; 95% CI: 1.09–2.59; P=.01) in the Q192R polymorphism were associated with FH in the Saudi population. CONCLUSION: In conclusion, the Q192R polymorphism in the PON1 gene is associated with FH in the Saudi population. Our results confirmed that the R allele, QR, and dominant model genotypes were associated with FH. LIMITATION: Only a single variant (Q192R) was analyzed, and the medical and family histories of the patients were not known.
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spelling pubmed-60741182018-09-21 Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population Alharbi, Khalid Khalaf Alnbaheen, May Salem Alharbi, Fawiziah Khalaf Hasanato, Rana M. Khan, Imran Ali Ann Saudi Med Original Article BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant condition characterized by abnormal levels of low-density lipoprotein (LDL) in the blood. FH is a risk factor for atherosclerosis and cardiovascular disease. The relationship between the paraoxonase 1 (PON1) gene, atherosclerosis and coronary artery disease has not been studied in Saudi patients. OBJECTIVE: To investigate the genetic associations of the Q192R polymorphism in the PON1 gene with FH in Saudi patients. DESIGN: Case-control study. SETTING: Tertiary care center, Riyadh. METHODS: Two hundred Saudi patients were enrolled in this study, including 100 patients with FH and 100 healthy controls, during the period from January 2012 to March 2013. Serum was separated from coagulated blood (3 mL) and used for analysis of lipid profiles. Genomic DNA was isolated from anticoagulant-treated blood (2 mL). Genotyping for the Q192R polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism analysis, followed by 3% agarose gel electrophoresis. MAIN OUTCOME MEASURE: The strength of association between the Q192R polymorphism and FH in the Saudi population. RESULTS: We confirmed that QR versus QQ (odds ratio [OR]: 1.55; 95% confidence interval [CI]: 1.05–3.43; P=.03), QR+RR versus QQ (OR: 1.98; 95% CI: 1.13–3.49; P=.01), and R versus Q (OR: 1.68; 95% CI: 1.09–2.59; P=.01) in the Q192R polymorphism were associated with FH in the Saudi population. CONCLUSION: In conclusion, the Q192R polymorphism in the PON1 gene is associated with FH in the Saudi population. Our results confirmed that the R allele, QR, and dominant model genotypes were associated with FH. LIMITATION: Only a single variant (Q192R) was analyzed, and the medical and family histories of the patients were not known. King Faisal Specialist Hospital and Research Centre 2017 /pmc/articles/PMC6074118/ /pubmed/29229890 http://dx.doi.org/10.5144/0256-4947.2017.425 Text en Copyright © 2017, Annals of Saudi Medicine This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Original Article
Alharbi, Khalid Khalaf
Alnbaheen, May Salem
Alharbi, Fawiziah Khalaf
Hasanato, Rana M.
Khan, Imran Ali
Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
title Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
title_full Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
title_fullStr Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
title_full_unstemmed Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
title_short Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
title_sort q192r polymorphism in the pon1 gene and familial hypercholesterolemia in a saudi population
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074118/
https://www.ncbi.nlm.nih.gov/pubmed/29229890
http://dx.doi.org/10.5144/0256-4947.2017.425
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