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- Association of uncoupling protein-1 haplotypes with body fat area = Uncoupling protein-1 반수체와 신체 비만과의 연관관계 연구
- Young Joo Kim; My Young Cheong; M H Cha; S M Choi; J Y Kim; K S Kim; S U Shin; Young-Kyu Park; H J Kim; S H Suh; Y Yoon
- Bibliographic Citation
- Interdisciplinary Bio Central, vol. 1, no. 4, pp. 12-12
- Publication Year
- Obesity is a major cause of morbidity and mortality and is associated with risks for type 2
diabetes mellitus, heart disease, metabolic syndrome, hypertension, stroke, and certain
forms of cancer. The glutamate decarboxylase 2 (GAD2), insulin-induced gene 2 (INSIG2),
ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), melanocortin 4 receptor
(MC4R), fresh touring origination (FTO), and uncoupling protein-1 (UCP-1) genes have
been investigated for their association with obesity.
Since the A-3826G SNP in the UCP-1 gene was first shown to be the key genetic
determinant of obesity and body fat accumulation, many studies have been performed in
various populations to measure the association of the G allele of this SNP with obesity
phenotypes. The association of the A-3826G SNP with obesity has been controversial,
however, suggesting that one SNP does not sufficiently explain the effects of genomic
variation on body fat accumulation.
In this study, 9 SNPs were newly identified in the 5’-flanking region of the UCP-1 gene by
direct sequencing of genomic DNA from 21 Korean subjects, and 6 haplotypes were
obtained by SNP genotyping and haplotype reconstruction. According to our haplotype
analysis, ht2 of the G allele of A-3826G, was significantly associated with overall fat
measures after age and body weight were adjusted. Ht6 of the A allele of A-3826G, was
significantly linked to reduced fat accumulation. These results provide an explanation for
the controversies that have been reported in many obesity association studies and suggest
that haplotype associations between polymorphic loci and neighbor loci that harbor
functional sequence variants can be exploited to identify disease-predisposing alleles.
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