Öz
Aim: The SORT1 gene encoding Sortilin-1 (SORT1), a receptor of the VPS10p family, is localized at 1p13.3. SORT1 has been associated with the risk of developing coronary heart disease (CHD) in genome wide association studies (GWAS) due to its association with hepatic lipid metabolism and low-density lipoprotein-cholesterol (LDL-C) levels. Various variations on the SORT1 gene region cause different effects on lipid profiles. Our aim in this study; To determine whether the SORT1 rs599839 gene variants have an effect on CHD development and lipid parameters in the Giresun province of Turkey.
Method: In this case-control study, the study group consisting of 396 men (209 KKH / 187 controls) was genotyped in terms of SORT1 rs599839 polymorphism using TaqMan 5 'Allelic Discrimination Test.
Results: There is no statistically significant difference between the patient and control groups in terms of SORT1 rs599839 genotypes (p=0.81). The presence of the G allele caused lower Total-C (p=0.005, p=0.032, respectively) and LDL-C (respectively; p=0.005, p=0.040) levels in both patient and control groups, while higher HDL-Cholesterol (p=0.001, p=0.006) levels were observed, respectively.
Conclusion: Our findings suggest that the SORT1 rs599839 polymorphism does not contribute directly to the pathogenesis of CHD. However, the presence of the minor G allele lowered Total-cholesterol and LDL-cholesterol levels and caused an increase in HDL-cholesterol levels. This situation gave the impression that the presence of the minor G allele has a positive effect on the lipid profile and is protective against CHD.