A copy number variant on chromosome 20q13.3 implicated in thinness and severe obesity

Sandra J. Hasstedt, Yuanpei Xin, Rong Mao, Tracey Lewis, Ted D. Adams, Steven Hunt

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4 Citations (Scopus)


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 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.

Original languageEnglish
Article number623431
JournalJournal of Obesity
Publication statusPublished - 2015


ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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