Table of Contents Author Guidelines Submit a Manuscript
Journal of Obesity
Volume 2015, Article ID 623431, 7 pages
http://dx.doi.org/10.1155/2015/623431
Research Article

A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity

1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
2Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
3Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
4ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
5Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar

Received 18 August 2015; Accepted 20 December 2015

Academic Editor: Eric Doucet

Copyright © 2015 Sandra J. Hasstedt et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background/Objectives. To identify copy number variants (CNVs) which are associated with body mass index (BMI). Subjects/Methods. CNVs were identified using array comparative genomic hybridization (aCGH) on members of pedigrees ascertained through severely obese (BMI ≥ 35 kg/m2) sib pairs (86 pedigrees) and thin (BMI ≤ 23 kg/m2) probands (3 pedigrees). Association was inferred through pleiotropy of BMI with CNV intensity ratio. Results. A 77-kilobase CNV on chromosome 20q13.3, confirmed by real-time qPCR, exhibited deletions in the obese subjects and duplications in the thin subjects (). Further support for the presence of a deletion derived from inference by likelihood analysis of null alleles for SNPs residing in the region. Conclusions. One or more of 7 genes residing in a chromosome 20q13.3 CNV region appears to influence BMI. The strongest candidate is ARFRP1, which affects glucose metabolism in mice.