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

Khalid Khalaf Alharbi,a May Salem Alnbaheen,b Fawiziah Khalaf Alharbi,c Rana M. Hasanato,d Imran Ali Khana

From the aDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia; bCollege of Science, Saudi Electronic University, Riyadh, Saudi Arabia; cDepartment of Biology Science, College of Science and Arts, Al-Qassim University, Al-Qassim, Saudi Arabia; dDepartment of Pathology College of Medicine and University Hospitals, King Saud University, Riyadh, Kingdom of Saudi Arabia

How to cite this article:

Alharbi KK, Alnbaheen MS, Alharbi FK, Hasanato RM, Khan IA. Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population. Ann Saudi Med 2017; 37(6): 425-432.


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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