Objective: To determine allele frequencies of 1784G > C polymorphism in Sterol Regulatory Element Binding Protein-2 (SREBP-2) gene and investigate the relationship between this polymorphism and serum lipid levels in hyperlipidemic and normolipidemic individuals residing in Beijing City, China.
Methods: A total of 322 unrelated hyperlipidemic individuals and 164 unrelated normolipidemic individuals were selected from Xicheng District of Beijing. For all subjects the serum lipids profiles were measured and the 1784G > C polymorphism was analyzed (PCR-RFLP).
Results: The frequencies of C allele in hyperlipidemic and control groups were 0.196 and 0.201, respectively. There was no significant difference in genotype frequencies or allele frequencies of this polymorphism between hyperlipidemic and control groups. When the hyperlipidemic subjects were divided into three subgroups according to lipid levels, it was shown that the serum TC and LDL-C levels of the individuals carrying C allele were significantly higher than the non-carriers in the hypercholesterolemic subgroup. There were no statistically significant differences for any of these parameters across genotypes in hypertriglyceridemic, combined hyperlipidemic and normolipidemic groups.
Conclusion: The study indicated that 1784GC/CC genotypes of SREBP-2 were significantly related with the elevated concentrations of serum TC and LDL-C in hypercholesterolemic subjects, and further work is necessary to confirm the role of 1784G > C polymorphism of SREBP-2 gene in the development of hyperlipidemia.