Abstract
Uncoupling protein 3 (UCP3) uncouples ATP production from mitochondrial respiration, thereby dissipating energy as heat and affecting the efficiency of energy metabolism. Genetic variations in the UCP3 gene have been conceived to affect body weight in the general population. In this study, using the quantitative transmission disequilibrium test (QTDT), we assessed linkage and association between the UCP3 gene and obesity phenotypes in a large sample of 1,873 subjects from 405 United States Caucasian nuclear families. Obesity phenotypes tested include body mass index (BMI), fat mass, percent fat mass (PFM), and lean mass, with the latter three measured by dual-energy X-ray absorptiometry. We first selected five single nucleotide polymorphisms (SNPs) and then analyzed three highly polymorphic ones, namely, -55 C/T (promoter), Tyr99Tyr (exon 3), and Tyr210Tyr (exon 5), in the total sample. Significant linkage disequilibria (0.392 ≤ D′ ≤ 0.940, P <0.0001) were observed between pairs of SNPs. In single-locus analyses, we found statistically significant association (P = 0.034) and linkage (P = 0.031) between -55 C/T and BMI. This polymorphism explains 2.29% of BMI variation, and subjects carrying the T allele had an average of 3.5% lower BMI than those without it (P = 0.003). In haplotype analyses, we also observed evidence of linkage (P = 0.002) and association (P = 0.035) with BMI. In summary, our results suggest that UCP3 gene polymorphisms may contribute to BMI variation in this Caucasian population.
| Original language | English |
|---|---|
| Pages (from-to) | 197-203 |
| Number of pages | 7 |
| Journal | Physiological Genomics |
| Volume | 22 |
| DOIs | |
| State | Published - Oct 2005 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Physiology
- Genetics
Cite this
Linkage and association analyses of the UCP3 gene with obesity phenotypes in Caucasian families. / Liu, Yong Jun; Liu, Peng Yuan; Long, Jirong; Lu, Yan; Elze, Leo; Recker, Robert R.; Deng, Hong Wen.
In: Physiological Genomics, Vol. 22, 10.2005, p. 197-203.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage and association analyses of the UCP3 gene with obesity phenotypes in Caucasian families
AU - Liu, Yong Jun
AU - Liu, Peng Yuan
AU - Long, Jirong
AU - Lu, Yan
AU - Elze, Leo
AU - Recker, Robert R.
AU - Deng, Hong Wen
PY - 2005/10
Y1 - 2005/10
N2 - Uncoupling protein 3 (UCP3) uncouples ATP production from mitochondrial respiration, thereby dissipating energy as heat and affecting the efficiency of energy metabolism. Genetic variations in the UCP3 gene have been conceived to affect body weight in the general population. In this study, using the quantitative transmission disequilibrium test (QTDT), we assessed linkage and association between the UCP3 gene and obesity phenotypes in a large sample of 1,873 subjects from 405 United States Caucasian nuclear families. Obesity phenotypes tested include body mass index (BMI), fat mass, percent fat mass (PFM), and lean mass, with the latter three measured by dual-energy X-ray absorptiometry. We first selected five single nucleotide polymorphisms (SNPs) and then analyzed three highly polymorphic ones, namely, -55 C/T (promoter), Tyr99Tyr (exon 3), and Tyr210Tyr (exon 5), in the total sample. Significant linkage disequilibria (0.392 ≤ D′ ≤ 0.940, P <0.0001) were observed between pairs of SNPs. In single-locus analyses, we found statistically significant association (P = 0.034) and linkage (P = 0.031) between -55 C/T and BMI. This polymorphism explains 2.29% of BMI variation, and subjects carrying the T allele had an average of 3.5% lower BMI than those without it (P = 0.003). In haplotype analyses, we also observed evidence of linkage (P = 0.002) and association (P = 0.035) with BMI. In summary, our results suggest that UCP3 gene polymorphisms may contribute to BMI variation in this Caucasian population.
AB - Uncoupling protein 3 (UCP3) uncouples ATP production from mitochondrial respiration, thereby dissipating energy as heat and affecting the efficiency of energy metabolism. Genetic variations in the UCP3 gene have been conceived to affect body weight in the general population. In this study, using the quantitative transmission disequilibrium test (QTDT), we assessed linkage and association between the UCP3 gene and obesity phenotypes in a large sample of 1,873 subjects from 405 United States Caucasian nuclear families. Obesity phenotypes tested include body mass index (BMI), fat mass, percent fat mass (PFM), and lean mass, with the latter three measured by dual-energy X-ray absorptiometry. We first selected five single nucleotide polymorphisms (SNPs) and then analyzed three highly polymorphic ones, namely, -55 C/T (promoter), Tyr99Tyr (exon 3), and Tyr210Tyr (exon 5), in the total sample. Significant linkage disequilibria (0.392 ≤ D′ ≤ 0.940, P <0.0001) were observed between pairs of SNPs. In single-locus analyses, we found statistically significant association (P = 0.034) and linkage (P = 0.031) between -55 C/T and BMI. This polymorphism explains 2.29% of BMI variation, and subjects carrying the T allele had an average of 3.5% lower BMI than those without it (P = 0.003). In haplotype analyses, we also observed evidence of linkage (P = 0.002) and association (P = 0.035) with BMI. In summary, our results suggest that UCP3 gene polymorphisms may contribute to BMI variation in this Caucasian population.
UR - http://www.scopus.com/inward/record.url?scp=25144493070&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=25144493070&partnerID=8YFLogxK
U2 - 10.1152/physiolgenomics.00031.2005
DO - 10.1152/physiolgenomics.00031.2005
M3 - Article
C2 - 15870396
AN - SCOPUS:25144493070
VL - 22
SP - 197
EP - 203
JO - Physiological Genomics
JF - Physiological Genomics
SN - 1094-8341
ER -