Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease.
Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated CTLA4/CD28 in coeliac disease by genetic linkage and association and combined our f...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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2002
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| _version_ | 1826299916854493184 |
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| author | Popat, S Hearle, N Hogberg, L Braegger, C O'Donoghue, D Falth-Magnusson, K Holmes, G Howdle, P Jenkins, H Johnston, S Kennedy, N Kumar, P Logan, R Marsh, M Mulder, C Torinsson Naluai, A Sjoberg, K Stenhammar, L Walters, JR Jewell, D Houlston, R |
| author_facet | Popat, S Hearle, N Hogberg, L Braegger, C O'Donoghue, D Falth-Magnusson, K Holmes, G Howdle, P Jenkins, H Johnston, S Kennedy, N Kumar, P Logan, R Marsh, M Mulder, C Torinsson Naluai, A Sjoberg, K Stenhammar, L Walters, JR Jewell, D Houlston, R |
| author_sort | Popat, S |
| collection | OXFORD |
| description | Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated CTLA4/CD28 in coeliac disease by genetic linkage and association and combined our findings with published studies through a meta-analysis. 116 multiplex families were genotyped across CTLA4/CD28 using eight markers. The contribution of CTLA4/CD28 to coeliac disease was assessed by non-parametric linkage and association analyses. Seven studies were identified that had evaluated the relationship between CTLA4/CD28 and coeliac disease and a pooled analysis of data undertaken. In our study there was evidence for a relationship between variation in the CTLA4/CD28 region and coeliac disease by linkage and association analyses. However, the findings did not attain formal statistical significance (p = 0.004 and 0.039, respectively). Pooling findings with published results showed significant evidence for linkage (504 families) and association (940 families): p values, 0.0001 and 0.0014 at D2S2214, respectively, and 0.0008 and 0.0006 at D2S116, respectively. These findings suggest that variation in the CD28/CTLA4 gene region is a determinant of coeliac disease susceptibility. Dissecting the sequence variation underlying this relationship will depend on further analyses utilising denser sets of markers. |
| first_indexed | 2024-03-07T05:09:13Z |
| format | Journal article |
| id | oxford-uuid:dafb7da3-e639-4a2c-ad5f-e5621081c56a |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:09:13Z |
| publishDate | 2002 |
| record_format | dspace |
| spelling | oxford-uuid:dafb7da3-e639-4a2c-ad5f-e5621081c56a2022-03-27T09:07:12ZVariation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:dafb7da3-e639-4a2c-ad5f-e5621081c56aEnglishSymplectic Elements at Oxford2002Popat, SHearle, NHogberg, LBraegger, CO'Donoghue, DFalth-Magnusson, KHolmes, GHowdle, PJenkins, HJohnston, SKennedy, NKumar, PLogan, RMarsh, MMulder, CTorinsson Naluai, ASjoberg, KStenhammar, LWalters, JRJewell, DHoulston, RSusceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated CTLA4/CD28 in coeliac disease by genetic linkage and association and combined our findings with published studies through a meta-analysis. 116 multiplex families were genotyped across CTLA4/CD28 using eight markers. The contribution of CTLA4/CD28 to coeliac disease was assessed by non-parametric linkage and association analyses. Seven studies were identified that had evaluated the relationship between CTLA4/CD28 and coeliac disease and a pooled analysis of data undertaken. In our study there was evidence for a relationship between variation in the CTLA4/CD28 region and coeliac disease by linkage and association analyses. However, the findings did not attain formal statistical significance (p = 0.004 and 0.039, respectively). Pooling findings with published results showed significant evidence for linkage (504 families) and association (940 families): p values, 0.0001 and 0.0014 at D2S2214, respectively, and 0.0008 and 0.0006 at D2S116, respectively. These findings suggest that variation in the CD28/CTLA4 gene region is a determinant of coeliac disease susceptibility. Dissecting the sequence variation underlying this relationship will depend on further analyses utilising denser sets of markers. |
| spellingShingle | Popat, S Hearle, N Hogberg, L Braegger, C O'Donoghue, D Falth-Magnusson, K Holmes, G Howdle, P Jenkins, H Johnston, S Kennedy, N Kumar, P Logan, R Marsh, M Mulder, C Torinsson Naluai, A Sjoberg, K Stenhammar, L Walters, JR Jewell, D Houlston, R Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. |
| title | Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. |
| title_full | Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. |
| title_fullStr | Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. |
| title_full_unstemmed | Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. |
| title_short | Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. |
| title_sort | variation in the ctla4 cd28 gene region confers an increased risk of coeliac disease |
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