Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease
(2002) In Annals of Human Genetics 66(2). p.125-137- Abstract
- Susceptibility to coeliae 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... (More)
- Susceptibility to coeliae 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 coeliae 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 (910 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. (Less)
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https://lup.lub.lu.se/record/331830
- author
- organization
- publishing date
- 2002
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Annals of Human Genetics
- volume
- 66
- issue
- 2
- pages
- 125 - 137
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:12174216
- wos:000177313700002
- scopus:18544380190
- ISSN
- 1469-1809
- DOI
- 10.1046/j.1469-1809.2002.00102.x
- language
- English
- LU publication?
- yes
- id
- 8cf1e0ff-71cd-4555-af26-80e82b2eb83f (old id 331830)
- date added to LUP
- 2016-04-01 12:22:23
- date last changed
- 2023-01-03 07:36:24
@article{8cf1e0ff-71cd-4555-af26-80e82b2eb83f, abstract = {{Susceptibility to coeliae 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 coeliae 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 (910 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.}}, author = {{Popat, S and Hearle, N and Hogberg, L and Braegger, CP and O'Donoghue, D and Falth-Magnusson, K and Holmes, GKT and Howdle, PD and Jenkins, H and Johnston, S and Kennedy, NP and Kumar, PJ and Logan, RFA and Marsh, MN and Mulder, CJ and Naluai, AT and Sjöberg, Klas and Stenhammar, L and Walters, JRF and Jewell, DP and Houlston, RS}}, issn = {{1469-1809}}, language = {{eng}}, number = {{2}}, pages = {{125--137}}, publisher = {{Wiley-Blackwell}}, series = {{Annals of Human Genetics}}, title = {{Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease}}, url = {{http://dx.doi.org/10.1046/j.1469-1809.2002.00102.x}}, doi = {{10.1046/j.1469-1809.2002.00102.x}}, volume = {{66}}, year = {{2002}}, }