The association of PBX1 polymorphisms with overweight/obesity and metabolic alterations in the Korean population

  • Ban, Ju-Yeon ;
  • Kang, Soon-Ah ;
  • Jung, Kyung-Hee ;
  • Kim, Hak-Jae ;
  • Uhm, Yoon-Kyung ;
  • Kim, Su-Kang ;
  • Yim, Sung-Vin ;
  • Choe, Bong-Keun ;
  • Hong, Seung-Jae ;
  • Seong, Yeon-Hee ;
  • Koh, In-Song ;
  • Chung, Joo-Ho
  • Published : 2008.12.31

Abstract

Pre-B-cell leukemia transcription factor 1 (PBX1), which is located on chromosome 1q23, was recently reported to be associated with type 2 diabetes mellitus. We examined whether single nucleotide polymorphisms (SNPs) of the PBX1 gene are associated with overweight/obesity in a Korean population. We genotyped 66 SNPs in the PBX1 gene and investigated their association with clinical phenotypes found in 214 overweight/obese subjects and 160 control subjects using the Affymetrix Targeted Genotyping chip array. Seven SNPs (g.+75l86C>T, g.+78350C>A, g.+80646C>T, g.+138004C>T, g.+185219G>A, g.+191272A>C, and g.+265317T>A) were associated with the risk of obesity in three models (codominant, dominant, and recessive) (P=0.007-0.05). Haplotype 1 (CAC) and 3 (TAC) of block 3 and haplotype 2 (GGAAT) of block 10 were also strongly associated with the risk of obesity. In the control group, subjects that had homozygote for the major allele for both g.+185219G>A and g.+191272A>C showed lower high density lipoprotein-cholesterol (HDL-C) level compared to those possessing the minor allele, suggesting that the association between the homozygote for the major allele for both g.+185219G>A and g.+191272A>C and HDL-C is attributable to the increased risk of obesity. This study suggests that the PBX1 gene is a possible risk factor in overweight/obese patients.

Keywords

High-density lipoprotein-cholesterol;overweight/obesity;Pre-B-cell leukemia transcription factor 1 (PBX1);single nucleotide polymorphism (SNP)

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