A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity
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 pedigr...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Journal of Obesity |
| Online Access: | http://dx.doi.org/10.1155/2015/623431 |
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| _version_ | 1832566755038330880 |
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| author | Sandra J. Hasstedt Yuanpei Xin Rong Mao Tracey Lewis Ted D. Adams Steven C. Hunt |
| author_facet | Sandra J. Hasstedt Yuanpei Xin Rong Mao Tracey Lewis Ted D. Adams Steven C. Hunt |
| author_sort | Sandra J. Hasstedt |
| collection | DOAJ |
| description | 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 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. |
| format | Article |
| id | doaj-art-4b51710150f04d7aa0945b237bf1fd31 |
| institution | Kabale University |
| issn | 2090-0708 2090-0716 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Obesity |
| spelling | doaj-art-4b51710150f04d7aa0945b237bf1fd312025-02-03T01:03:22ZengWileyJournal of Obesity2090-07082090-07162015-01-01201510.1155/2015/623431623431A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe ObesitySandra J. Hasstedt0Yuanpei Xin1Rong Mao2Tracey Lewis3Ted D. Adams4Steven C. Hunt5Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USACardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USADepartment of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112, USAARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USACardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USACardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USABackground/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 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.http://dx.doi.org/10.1155/2015/623431 |
| spellingShingle | Sandra J. Hasstedt Yuanpei Xin Rong Mao Tracey Lewis Ted D. Adams Steven C. Hunt A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity Journal of Obesity |
| title | A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity |
| title_full | A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity |
| title_fullStr | A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity |
| title_full_unstemmed | A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity |
| title_short | A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity |
| title_sort | copy number variant on chromosome 20q13 3 implicated in thinness and severe obesity |
| url | http://dx.doi.org/10.1155/2015/623431 |
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