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Published on: April 19, 2013
A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity
Sandra J Hasstedt1, Yuanpei Xin2, Rong Mao3
1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
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 log2 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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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Obesity
Pleiotropy
X-linked Traits
X-linked Traits
Chromosome Duplication

