Genome-wide analysis of copy number variation in type 1 diabetes.
Type 1 diabetes (T1D) tends to cluster in families, suggesting there may be a genetic component predisposing to disease. However, a recent large-scale genome-wide association study concluded that identified genetic factors, single nucleotide polymorphisms, do not account for overall familiality. Ano...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2010-11-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC2981564?pdf=render |
| _version_ | 1818850721751105536 |
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| author | Britney L Grayson Mary Ellen Smith James W Thomas Lily Wang Phil Dexheimer Joy Jeffrey Pamela R Fain Priyaanka Nanduri George S Eisenbarth Thomas M Aune |
| author_facet | Britney L Grayson Mary Ellen Smith James W Thomas Lily Wang Phil Dexheimer Joy Jeffrey Pamela R Fain Priyaanka Nanduri George S Eisenbarth Thomas M Aune |
| author_sort | Britney L Grayson |
| collection | DOAJ |
| description | Type 1 diabetes (T1D) tends to cluster in families, suggesting there may be a genetic component predisposing to disease. However, a recent large-scale genome-wide association study concluded that identified genetic factors, single nucleotide polymorphisms, do not account for overall familiality. Another class of genetic variation is the amplification or deletion of >1 kilobase segments of the genome, also termed copy number variations (CNVs). We performed genome-wide CNV analysis on a cohort of 20 unrelated adults with T1D and a control (Ctrl) cohort of 20 subjects using the Affymetrix SNP Array 6.0 in combination with the Birdsuite copy number calling software. We identified 39 CNVs as enriched or depleted in T1D versus Ctrl. Additionally, we performed CNV analysis in a group of 10 monozygotic twin pairs discordant for T1D. Eleven of these 39 CNVs were also respectively enriched or depleted in the Twin cohort, suggesting that these variants may be involved in the development of islet autoimmunity, as the presently unaffected twin is at high risk for developing islet autoimmunity and T1D in his or her lifetime. These CNVs include a deletion on chromosome 6p21, near an HLA-DQ allele. CNVs were found that were both enriched or depleted in patients with or at high risk for developing T1D. These regions may represent genetic variants contributing to development of islet autoimmunity in T1D. |
| first_indexed | 2024-12-19T06:53:38Z |
| format | Article |
| id | doaj.art-1b7c2731cbc94c4897e2e37fb8eea750 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-19T06:53:38Z |
| publishDate | 2010-11-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-1b7c2731cbc94c4897e2e37fb8eea7502022-12-21T20:31:38ZengPublic Library of Science (PLoS)PLoS ONE1932-62032010-11-01511e1539310.1371/journal.pone.0015393Genome-wide analysis of copy number variation in type 1 diabetes.Britney L GraysonMary Ellen SmithJames W ThomasLily WangPhil DexheimerJoy JeffreyPamela R FainPriyaanka NanduriGeorge S EisenbarthThomas M AuneType 1 diabetes (T1D) tends to cluster in families, suggesting there may be a genetic component predisposing to disease. However, a recent large-scale genome-wide association study concluded that identified genetic factors, single nucleotide polymorphisms, do not account for overall familiality. Another class of genetic variation is the amplification or deletion of >1 kilobase segments of the genome, also termed copy number variations (CNVs). We performed genome-wide CNV analysis on a cohort of 20 unrelated adults with T1D and a control (Ctrl) cohort of 20 subjects using the Affymetrix SNP Array 6.0 in combination with the Birdsuite copy number calling software. We identified 39 CNVs as enriched or depleted in T1D versus Ctrl. Additionally, we performed CNV analysis in a group of 10 monozygotic twin pairs discordant for T1D. Eleven of these 39 CNVs were also respectively enriched or depleted in the Twin cohort, suggesting that these variants may be involved in the development of islet autoimmunity, as the presently unaffected twin is at high risk for developing islet autoimmunity and T1D in his or her lifetime. These CNVs include a deletion on chromosome 6p21, near an HLA-DQ allele. CNVs were found that were both enriched or depleted in patients with or at high risk for developing T1D. These regions may represent genetic variants contributing to development of islet autoimmunity in T1D.http://europepmc.org/articles/PMC2981564?pdf=render |
| spellingShingle | Britney L Grayson Mary Ellen Smith James W Thomas Lily Wang Phil Dexheimer Joy Jeffrey Pamela R Fain Priyaanka Nanduri George S Eisenbarth Thomas M Aune Genome-wide analysis of copy number variation in type 1 diabetes. PLoS ONE |
| title | Genome-wide analysis of copy number variation in type 1 diabetes. |
| title_full | Genome-wide analysis of copy number variation in type 1 diabetes. |
| title_fullStr | Genome-wide analysis of copy number variation in type 1 diabetes. |
| title_full_unstemmed | Genome-wide analysis of copy number variation in type 1 diabetes. |
| title_short | Genome-wide analysis of copy number variation in type 1 diabetes. |
| title_sort | genome wide analysis of copy number variation in type 1 diabetes |
| url | http://europepmc.org/articles/PMC2981564?pdf=render |
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