rs11613352 polymorphism (TT genotype) associates with a decrease of triglycerides and an increase of HDL in familial...

Area of Science:

• Genetics
• Cardiovascular Disease
• Lipid Metabolism

Background:

• Genome-wide association studies identified a locus on chromosome 12q13.3 associated with lipid levels.
• The single nucleotide polymorphism (SNP) rs11613352 is the lead SNP in this region.
• Familial hypercholesterolemia (FH) is a condition characterized by high cardiovascular risk due to elevated cholesterol.

Purpose of the Study:

• To investigate the role of the rs11613352 SNP in a cohort of FH patients.
• To determine the association between rs11613352 and plasma lipid levels in FH.

Main Methods:

• Genotyping of rs11613352 using Taqman assay in 601 FH patients.
• Analysis of association with triglyceride and high-density lipoprotein cholesterol levels using multivariate linear regression.

Main Results:

• The rs11613352 polymorphism showed a recessive association (TT genotype).
• The TT genotype was significantly associated with decreased triglyceride levels (P=.002).
• The TT genotype was significantly associated with increased high-density lipoprotein cholesterol levels (P=.021) after adjusting for age and sex.

Conclusions:

• The rs11613352 SNP may influence cardiovascular risk in FH patients.
• Modulation of plasma lipid levels by rs11613352 could impact cardiovascular risk in FH.