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. 2015:2015:623431.
doi: 10.1155/2015/623431. Epub 2015 Dec 31.

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

Sandra J Hasstedt  1 , Yuanpei Xin  2 , Rong Mao  3 , Tracey Lewis  4 , Ted D Adams  2 , Steven C Hunt  5
Affiliations

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

Sandra J Hasstedt et al. J Obes. 2015.

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/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.

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