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


ABSTRACT: To identify copy number variants (CNVs) which are associated with body mass index (BMI).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.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.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.

SUBMITTER: Hasstedt SJ 

PROVIDER: S-EPMC4736014 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Hasstedt Sandra J SJ   Xin Yuanpei Y   Mao Rong R   Lewis Tracey T   Adams Ted D TD   Hunt Steven C SC  

Journal of obesity 20151231


<h4>Background/objectives</h4>To identify copy number variants (CNVs) which are associated with body mass index (BMI).<h4>Subjects/methods</h4>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.<h4>Results</h4>A 77-kilobase CNV on chromosom  ...[more]

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