Association between variants of lipoprotein lipase and coronary heart disease in a Tunisian population

• Published in: Pathologie biologie (Paris) Vol. 60; no. 3; pp. 180 - 184
• Main Authors: Jelassi, A, Jguirim, I, Slimani, A, Najah, M, Hamda, K B, Addad, F, Hassine, M, Maatouk, F, Varret, M, Slimane, M N
• Format: Journal Article
• Language: French
• Published: France 01-06-2012
• Subjects: Aged; Amino Acid Substitution - genetics; Asparagine - genetics; Aspartic Acid - genetics; Case-Control Studies; Coronary Disease - diagnosis; Coronary Disease - epidemiology; Coronary Disease - genetics; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetics, Population; Genotype; Humans; Lipoprotein Lipase - genetics; Male; Middle Aged; Polymorphism, Single Nucleotide - physiology; Serine - genetics; Tunisia - epidemiology; Tunisia
• ISSN: 1768-3114
• DOI: 10.1016/j.patbio.2011.04.003

Coronary artery disease (CAD) is a complex multifactorial disease due to the interaction of multiple genes variations and environmental factors. Genetic variants of lipoprotein lipase (LPL), a key enzyme in the hydrolysis of triglyceride rich particles, may contribute to CAD. We analysed here the frequency of LPL variants (p.Asp9Asn, p.Asn291Ser and p.Ser447X) in a Tunisian population as well as their association with circulating lipid level and risk of CAD.
LPL variations were investigated by PCR-RFLP and lipid parameters were measured in 135 patients and 109 controls.
The frequency of the p.Asp9Asn variation was 10.37% in CAD patients versus 3.66% in controls. The frequency for the p.Ser447X variation was 8.8% in CAD patients versus 13.7% in controls. There was no significant association between these two variants and CAD. The p.Asn291Ser mutation variation was absent in this population. In healthy subjects, heterozygote carriers of the p.Asp9Asn substitution had a significant increase level of total cholesterol (4.2±0.9mmol/L vs 5.6±1.2mmol/L; P=0.01) and a decreased level of HDL-cholesterol (1.36±0.3mmol/L vs 0.93±0.1mmol/L; P=0.045).
There was no significant association between genetic variants of the LPL gene and CAD in this Tunisian population. The very low frequency of the p.Asn291Ser variation may be an ethnic specificity of Tunisians.