The finding of new genetic polymorphism of UCP-1 A-1766G and its effects on body fat accumulation.
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. A-1766G 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.
Kim
Kil Soo
KS
Kirin Oriental Hospital, 38-25, Jamwon-dong, Seocho-gu, Seoul 137-905, Republic of Korea.
Cho
Dae-Yeon
DY
Kim
Young Joo
YJ
Choi
Sun Mi
SM
Kim
Jong Yeol
JY
Shin
Seung Uoo
SU
Yoon
Yoo Sik
YS
D000273:Adipose Tissue / Q000033:anatomy & histology / Q000502:physiology; D000328:Adult; D000483:Alleles; D001823:Body Composition / Q000235:genetics*; D015992:Body Mass Index; D001835:Body Weight / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007473:Ion Channels; D007723:Korea; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins; D011110:Polymorphism, Genetic; D014057:Tomography, X-Ray Computed; D000071256:Uncoupling Protein 1; D049629:Waist-Hip Ratio
D002352:Carrier Proteins; D007473:Ion Channels; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C000604371:UCP1 protein, human; D000071256:Uncoupling Protein 1