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Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease

Popat, S ; Hearle, N ; Hogberg, L ; Braegger, CP ; O'Donoghue, D ; Falth-Magnusson, K ; Holmes, GKT ; Howdle, PD ; Jenkins, H and Johnston, S , et al. (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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organization
publishing date
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}},
}