title: 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.
authors.affiliation: Department of Tropical Nutrition and Food Science, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Anong
authors.initials: A
authors.lastname: Kitjaroentham
authors.forename: Hathairad
authors.initials: H
authors.lastname: Hananantachai
authors.forename: Anchalee
authors.initials: A
authors.lastname: Tungtrongchitr
authors.forename: Somchai
authors.initials: S
authors.lastname: Pooudong
authors.forename: Rungsunn
authors.initials: R
authors.lastname: Tungtrongchitr
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000097:blood / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D008076:Cholesterol, HDL / Q000097:blood*; D005787:Gene Frequency; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D050177:Overweight / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013785:Thailand / Q000453:epidemiology
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL