title: The association of PBX1 polymorphisms with overweight/obesity and metabolic alterations in the Korean population.
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.+75186C>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.
authors.affiliation: Brain Korea 21 Project Center, Kyung Hee University, Hoegi-dong, Dongdaemun-gu, Seoul 130-701, Korea.
authors.forename: Ju Yeon
authors.initials: JY
authors.lastname: Ban
authors.forename: Soon Ah
authors.initials: SA
authors.lastname: Kang
authors.forename: Kyung Hee
authors.initials: KH
authors.lastname: Jung
authors.forename: Hak Jae
authors.initials: HJ
authors.lastname: Kim
authors.forename: Yoon Kyung
authors.initials: YK
authors.lastname: Uhm
authors.forename: Su Kang
authors.initials: SK
authors.lastname: Kim
authors.forename: Sung-Vin
authors.initials: SV
authors.lastname: Yim
authors.forename: Bong-Keun
authors.initials: BK
authors.lastname: Choe
authors.forename: Seung-Jae
authors.initials: SJ
authors.lastname: Hong
authors.forename: Yeon Hee
authors.initials: YH
authors.lastname: Seong
authors.forename: In Song
authors.initials: IS
authors.lastname: Koh
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung