Association of a Genetic Variant of BTN2A1 With Metabolic Syndrome in East Asian Populations

J Med Genet. 2011 Nov;48(11):787-92. doi: 10.1136/jmg.2010.088138. Epub 2011 Jul 22.


Background: The authors previously showed that the C→T polymorphism (rs6929846) of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with myocardial infarction in Japanese individuals. Given that metabolic syndrome (MetS) is an important risk factor for myocardial infarction, the association of the rs6929846 of BTN2A1 with myocardial infarction might be attributable, at least in part, to its effect on susceptibility to MetS.

Aim: The aim of the present study was to examine the relation of the rs6929846 of BTN2A1 to MetS in East Asian populations.

Methods: The study population comprised 5210 Japanese or Korean individuals (3982 individuals with MetS, 1228 controls) from three independent subject panels. Japanese subject panels A and B comprised 1322 individuals with MetS and 654 controls, and 1909 individuals with MetS and 170 controls, respectively, whereas the Korean population samples comprised 751 individuals with MetS and 404 controls.

Results: Comparison of genotype distributions using the χ(2) test revealed that the genotype distributions and allele frequencies of rs6929846 were significantly (p<0.05) associated with MetS in Japanese subject panels A (T allele frequency: MetS, 0.091; controls, 0.054; p=6.1×10(-5)) and B (T allele frequency: MetS, 0.091; controls, 0.039; p=0013) but not in the Korean population samples (T allele frequency: MetS, 0.102; controls, 0.125; p=0.0997). Multivariable logistic regression analysis with adjustment for covariates revealed that the rs6929846 of BTN2A1 was significantly (p<0.017) associated with MetS in Japanese subject panel A (p=0.0055, OR 1.97) and in all individuals (p=0.0038, OR 1.38), with the T allele representing a risk factor for this condition.

Conclusion: BTN2A1 may be a susceptible gene for MetS in Japanese individuals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Butyrophilins
  • Case-Control Studies
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Japan / epidemiology
  • Logistic Models
  • Male
  • Membrane Glycoproteins / genetics*
  • Metabolic Syndrome / ethnology
  • Metabolic Syndrome / genetics*
  • Middle Aged
  • Mutation
  • Polymorphism, Single Nucleotide*
  • Prevalence
  • Republic of Korea / epidemiology
  • Risk Factors


  • Butyrophilins
  • Membrane Glycoproteins