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

Ban, Ju-Yeon (Brain Korea 21 Project Center, Kyung Hee University)
Kang, Soon-Ah (Department of Fermented Food Science, Seoul University of Venture & Information)
Jung, Kyung-Hee (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University)
Kim, Hak-Jae (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University)
Uhm, Yoon-Kyung (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University)
Kim, Su-Kang (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University)
Yim, Sung-Vin (Brain Korea 21 Project Center, Kyung Hee University)
Choe, Bong-Keun (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University)
Hong, Seung-Jae (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University)
Seong, Yeon-Hee (College of Veterinary Medicine, Chungbuk National University)
Koh, In-Song (Department of Physiology, College of Medicine, Han Yang University)
Chung, Joo-Ho (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University)
Publication Information
Nutrition Research and Practice / v.2, no.4, 2008 , pp. 289-294 More about this Journal
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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