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

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 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
Volume2015
DOIs
Publication statusPublished - 2015

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Morbid Obesity
Thinness
Body Mass Index
Chromosomes
Pedigree
Comparative Genomic Hybridization
Single Nucleotide Polymorphism
Alleles
Glucose
Genes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

Cite this

A copy number variant on chromosome 20q13.3 implicated in thinness and severe obesity. / Hasstedt, Sandra J.; Xin, Yuanpei; Mao, Rong; Lewis, Tracey; Adams, Ted D.; Hunt, Steven.

In: Journal of Obesity, Vol. 2015, 623431, 2015.

Research output: Contribution to journalArticle

Hasstedt, Sandra J. ; Xin, Yuanpei ; Mao, Rong ; Lewis, Tracey ; Adams, Ted D. ; Hunt, Steven. / A copy number variant on chromosome 20q13.3 implicated in thinness and severe obesity. In: Journal of Obesity. 2015 ; Vol. 2015.
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