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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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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
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yes
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8cf1e0ff-71cd-4555-af26-80e82b2eb83f (old id 331830)
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2007-11-09 08:28:20
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@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},
  volume       = {66},
  year         = {2002},
}