Objective: Metabolic syndrome (MetS) is a cluster of health problems that places individuals at higher risk of developing cardiovascular disease, diabetes and stroke. The prevalence of MetS is increasing worldwide. It is also well accepted that genetic and environmental factors play significant roles in the occurrence/development of MetS, but studies exploring genetic factors are still lacking. Here, we aimed to investigate the association of ADIPOQ gene variants with MetS in an elderly Chinese Han population.

Results: We found that the allelic frequencies of rs6773957 and rs3774261 were significantly different between MetS and the control (p = 0.031; p = 0.049). Furthermore, a reduction in luciferase activity was observed when HEK293T cells were transfected with rs6773957 mutant fragments compared with wild type.

Conclusion: Our results suggest that rs6773957 and rs3774261 of ADIPOQ were associated with MetS in the elderly Chinese Han population. The functional assays performed indicate that the rs6773957 variant might be pathogenic and may provide evidence for mechanistic studies of MetS in the future.

Methods: Four single nucleotide polymorphisms (SNPs) were selected and genotyped (rs6773957, rs182052, rs3774261 and rs17366568) in 1337 subjects, including 569 healthy controls and 768 MetS cases. The clinical characteristics of all the subjects were obtained and analyzed. Additionally, a functional study of rs6773957 in regulating the expression of ADIPOQ was performed in this study.