Genetics
The CETP rs708272 AA genotype is linked to higher HDL cholesterol in an Iranian coronary artery disease cohort (J Clin Lab Anal 2024)
Original title: Association of the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) Polymorphisms With Risk of Coronary Artery Disease in Iranian Patients
In a case-control study of 400 subjects (200 coronary artery disease patients with hyperlipidemia and 200 healthy controls) from southeast Iran, researchers genotyped five polymorphisms, including CETP rs708272, for association with lipid parameters and coronary artery disease risk using PCR-RFLP. The VDR rs2228570 T-risk allele and its TT and CT genotypes were associated with increased coronary artery disease risk and altered LDL and HDL cholesterol levels, while the OLR1 rs3736234 GG genotype was linked to higher body mass index and triglycerides. The CETP rs708272 AA genotype was specifically associated with higher HDL cholesterol levels, supporting a role for CETP genetic variation, alongside VDR and OLR1, in shaping lipid profiles relevant to cardiovascular risk in this population.
Original abstract
Background: Coronary artery disease (CAD) is a devastating illness and a leading cause of death worldwide, primarily caused by atherosclerosis resulting from a genetic-environmental interaction. This study aimed to investigate the relationship between the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) polymorphisms, lipid profile parameters, and CAD risk in a southeast Iranian population.
Methods: A total of 400 subjects (200 CAD patients with hyperlipidemia and 200 healthy controls) were enrolled in this case-control study. Five selected polymorphisms were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.
Results: For all single nucleotide polymorphisms (SNPs), the population under study was in the Hardy-Weinberg equilibrium. The T-risk allele frequency of rs2228570 was associated with an increased risk of CAD. The TT and CT genotypes of rs2228570 had also been associated with the risk of CAD. Additionally, the TT genotype was associated with higher serum low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c) levels. The GG genotype of the rs3736234 was associated with higher body mass index (BMI) and triglyceride (TG) levels, and the AA genotype of the rs708272 was associated with higher HDL-c levels. Based on these findings, we propose that the VDR (rs2228570) polymorphism was associated with serum HDL-c and LDL-c levels and may serve as potential risk factors for CAD within the Iranian population. Moreover, rs3736234 and rs708272 influence the concentrations of TG and HDL-c, respectively.
Conclusion: These findings provided insights into the complex interplay between genetic variations, cardiovascular risk, and lipid metabolism.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.