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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/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.

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