Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Volume 1741, Issue 1-2, Pages 149-155Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2004.11.026
Keywords
UCP-1; A-1766G; polymorphism; SNP; haplotype; fat
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A-1766G polymorphism, for the first time, has been found in the sequencing of pooled and individual genomic DNA of Korean subjects at the 5' flanking region of the UCP-1 gene. The effects of new polymorphism on body fat were elucidated among 387 Korean female subjects. It was shown that the genotypes AA, AG, and GG were consisted of 57.4%, 37.7%, and 4.9%, respectively, which was in agreement with Hardy-Weinberg equilibrium (P=0.327). The frequency of major A allele was 0.762 and that of minor G allele was 0.238. It is found that the waist-hip ratio (WHR) (P=0.008), body fat mass (P=0.023), and percent body fat (P=0.014) are significantly higher in the AG/GG type compared to the AA type. When the subjects were analyzed using computerized tomography, there were significant increases in the AG/GG type compared to the AA type in the abdominal subcutaneous fat (P=0.015) and the abdominal visceral fat (P=0.013), respectively. A1766G is approximately 2 kb downstream from the well-known A-3826G polymorphism, and no linkage between them was found (D'-0.929, R-2=0.283). Three haplotypes (frequency > 0.05) were examined from two polymorphisms and Studied for their physiological effects. It was found that haplotype [GG] was significantly associated with increased body fat, while haplotype [GA] was associated with decreased body fat. (c) 2004 Elsevier B.V. All rights reserved.
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