title: A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity.
abstract: OBJECTIVE
  To identify copy number variants (CNVs) which are associated with body mass index (BMI).
  
  
  METHODS
  CNVs were identified using array comparative genomic hybridization (aCGH) on members of pedigrees ascertained through severely obese (BMI ≥ 35 kg/m(2)) sib pairs (86 pedigrees) and thin (BMI ≤ 23 kg/m(2)) probands (3 pedigrees). Association was inferred through pleiotropy of BMI with CNV log⁡2 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 (P = 2.2 × 10(-6)). 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.
authors.affiliation: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
authors.forename: Sandra J
authors.initials: SJ
authors.lastname: Hasstedt
authors.affiliation: Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
authors.forename: Yuanpei
authors.initials: Y
authors.lastname: Xin
authors.affiliation: Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
authors.forename: Rong
authors.initials: R
authors.lastname: Mao
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
authors.forename: Tracey
authors.initials: T
authors.lastname: Lewis
authors.affiliation: Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
authors.forename: Ted D
authors.initials: TD
authors.lastname: Adams
authors.affiliation: Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar.
authors.forename: Steven C
authors.initials: SC
authors.lastname: Hunt
mesh_terms: D020727:ADP-Ribosylation Factors / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D015992:Body Mass Index; D002890:Chromosomes, Human, Pair 20; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005260:Female; D058685:Genetic Pleiotropy; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009767:Obesity, Morbid / Q000235:genetics*; D010375:Pedigree; D012016:Reference Values; D017384:Sequence Deletion; D013851:Thinness / Q000235:genetics*; D055815:Young Adult
chemical_list: D020727:ADP-Ribosylation Factors; C541296:ARFRP1 protein, human