Coeliac disease in identical twin infants

Lord, Carol I.; MacGregor, Gerald A

doi:10.1136/pgmj.57.672.658

Cited by 14 publications

(2 citation statements)

References 9 publications

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“…Additional support for an inherited predisposition to coeliac disease is provided by twin studies. The concordance rate of coeliac disease seen in monozygotic twins is " 70 % (Sauer, 1927 ;Haas, 1932 ;Collishaw, 1940 ;MacDonald et al 1965 ;David & Ajdukiewicz, 1975 ;Pena et al 1979 ;Lord & MacGregor, 1981 ;Polanco et al 1986). A number of discordant twin pairs have been described (Ebbs, 1956 ;Hoffman et al 1966 ;Walker-Smith, 1973 ;Lewkonia et al 1976 ;Polanco et al 1986) and may suggest a role for additional environmental factors.…”

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confidence: 99%

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

Popat

Hearle

Högberg

et al. 2002

Annals of Human Genetics

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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 l 0n004 and 0n039, respectively). Pooling findings with published results showed significant evidence for linkage (504 families) and association (940 families) : p values, 0n0001 and 0n0014 at D2S2214, respectively, and 0n0008 and 0n0006 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.

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mentioning

confidence: 99%

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

Popat

Hearle

Högberg

et al. 2002

Annals of Human Genetics

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“…Another patient with IgA deficiency also possibly had sarcoidosis, and both her identical twin sons had coeliac disease. 3 The association of coeliac disease and primary biliary cirrhosis with sarcoidosis may have an immunological basis.4…”

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confidence: 99%