Lipoprotein lipase gene polymorphisms and their association with the development and severity of carotid artery stenosis

Introduction and Aim: In developed countries, carotid artery stenosis (CAS) has a considerable impact on mortality and disability rates. Genetic risk factors for CAS have also been linked, in addition to environmental risk factors. This study sought to determine whether there may be a link between three polymorphisms in the LPL gene and the emergence of CAS.   Materials and Methods: One hundred and twenty participants were enrolled in this case-control study, including 60 individuals with CAS and 60 healthy subjects serving as the control group. The demographic and clinical data were collected from each participant. Whole blood samples were obtained to study the genomic DNA where a specific LPL gene fragment corresponding to the three single nucleotide polymorphisms (SNPs) rs320, rs328, and rs285 was amplified using designated primers. Restriction fragment length polymorphism analysis was used for genotyping.   Results: The mutant allele (C) of the rs285 polymorphism was more frequent in patients than controls (45% vs. 32.5%; OR=1.7, 95% CI= 1.01- 2.87; p=0.048). The TCC haplotype block (T allele of rs320, C allele of rs285, and C allele of rs328) was significantly more prevalent in patients compared to controls (OR= 2.0, 95% CI= 1.03-3.77, p= 0.039). On the other hand, controls (23.33%) had significantly more of the haplotype block GTG than did patients (8.33%) (OR = 0.3, 95% CI = 0.14-0.065, p = 0.002). The SNPs rs320 (D' = 0.63) and rs328 (D' = 0.61) have weak relationships with rs385.   Conclusion: The C allele of rs285 polymorphism could be considered a risk factor for CAS. While the haplotype block GTG was thought to play a protective role, the haplotype block TCC (T allele of rs320, C allele of rs285, and C allele of rs328) may increase the risk of CAS.