R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males

Abstract

Background: ATP binding cassette transporter A1 (ABCA1) plays a role in the initial stage of removing cholesterol from the body via cholesterol efflux. Mutations of this gene cause wide-ranging HDL deficiency, as evident in Tangier disease and familial hypoalphalipoproteinemia. The aim of this study was to elucidate whether the presence of ABCA1 gene polymorphism could be a risk factor for overweight/obesity.

Methods: The presence of R219K and I883M genetic variant was determined by PCR-RFLP analysis in 112 overweight/obese and 117 control subjects of both sexes. Statistical analysis was performed to find an association between polymorphism and lipid data.

Results: Overweight/obese men carrying the mutant allele of R219K had lower level of HDL than the control (p = 0.006). However, no positive association was observed using bivariate logistic regression analysis. On the contrary, there was no difference in HDL level among genotypes in I883M polymorphism. Both polymorphisms appeared to be common in Thai ethnic groups. No difference was detected in genotype frequency between the two populations for both polymorphisms.

Conclusions: Although the lower level of HDL in overweight/obese men carrying R219K in comparison to the control suggests the possible involvement of this gene with obesity, further investigations are needed to prove the influence of ABCA1 gene polymorphism on HDL level and to determine whether it could be a genetic determinant of obesity.