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- Title
Genetic analysis of the estrogen-related receptor α and studies of association with obesity and type 2 diabetes.
- Authors
Larsen, L. H.; Rose, C. S.; Sparsø, T.; Overgaard, J.; Torekov, S. S.; Grarup, N.; Jensen, D. P.; Albrechtsen, A.; Andersen, G.; Ek, J.; Glümer, C.; Borch-Johnsen, K.; Jørgensen, T.; Hansen, T.; Pedersen, O.
- Abstract
Background:The estrogen-related receptor α (ERRα or NR3B1) is a transcription factor from the nuclear receptor super-family, group III. The gene encoding ERRα (ESRRA) is located on chromosome 11q13, a region showing genetic linkage to body mass index and fat percentage. Through interaction with the peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α), ERRα regulates key enzymes involved in the β-oxidation of fatty acids.Results:By screening 48 overweight or obese subjects for variants in the exons, exon–intron boundaries and 1000 base pairs (bp) of the promoter region of ESRRA using bi-directional nucleotide sequencing, we identified seven variants. Four rare variants had minor allele frequencies (MAF) below 1%: Pro369Pro, Gly406Asp, 3′UTR+418G>A, 3′UTR+505C>A. Two single-nucleotide polymorphisms, Pro116Pro and IVS6+65C>T (MAF 15%), were in complete linkage disequilibrium (LD) (r 2=1). We also confirmed the presence of a reported 23 bp microsatellite repeat (ESRRA23). The Pro116Pro and ESRRA23 variants were not associated with obesity, type 2 diabetes or related phenotypes in a large population-based study of 6365 Danish whites. The two variants were examined for interactions with variants in the peroxisome proliferator-activated receptor-γ coactivator-1α and -β; however, no evidence of epistatic effects between the variants was demonstrated.Conclusion:The ESRRA23 and Pro116Pro variants of the gene encoding ERRα are not associated with obesity, type 2 diabetes or related quantitative traits in the examined Danish whites.International Journal of Obesity (2007) 31, 365–370. doi:10.1038/sj.ijo.0803408; published online 6 June 2006
- Subjects
ESTROGEN receptors; OBESITY; TYPE 2 diabetes; TRANSCRIPTION factors; NUCLEAR receptors (Biochemistry); BODY mass index
- Publication
International Journal of Obesity, 2007, Vol 31, Issue 2, p365
- ISSN
0307-0565
- Publication type
Article
- DOI
10.1038/sj.ijo.0803408