Genetics in coeliac disease

Heel, David A. van; Hunt, Karen A.; Greco, Luigi; Wijmenga, Cisca

doi:10.1016/j.bpg.2005.01.001

Cited by 110 publications

(78 citation statements)

References 90 publications

(84 reference statements)

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“…13 Association between the CTLA4 region and CD has been demonstrated in several populations, in a number of studies. 14,15 We have previously investigated this gene cluster in Finnish CD families and found linkage 16 as well as association with a haplotype within the ICOS gene. 17 ICOS (inducible co-stimulator) and CTLA4 (cytotoxic T-lymphocyte-associated protein-4) belong to the CD28 family of T-cell co-stimulatory receptors that are expressed on T cells following activation.…”

Section: Introductionmentioning

confidence: 99%

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency

et al. 2008

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IgA deficiency (IgAD) and common variable immunodeficiency (CVID) often co-occur in families, associating with chronic inflammatory diseases such as celiac disease (CD). ICOS (inducible co-stimulator) and CTLA4 (cytotoxic T-lymphocyteassociated protein-4) may be important in both disorders, as ICOS is necessary for Ig class-switching and CTLA4 negatively regulates T-cell activation. Linkage and association of CD with CTLA4-ICOS is well documented, we thus aimed to further pinpoint CD susceptibility by haplotype-tagging analysis. We genotyped 663 CD families from Finland and Hungary, 575 additional CD patients from Finland, Hungary and Italy; 275 Swedish and Finnish IgAD individuals and 87 CVID individuals for 14-18 genetic markers in CTLA4-ICOS. Association was found between CTLA4-ICOS and both IgAD (P ¼ 0.0015) and CVID (P ¼ 0.0064). We confirmed linkage of CTLA4-ICOS with CD (LOD 2.38, P ¼ 0.0005) and found association of CTLA4-ICOS with CD (P ¼ 0.0009). Meta-analysis of the IgAD, CVID and CD materials revealed intergenic association (P ¼ 0.0005). Disease-associated markers were associated with lower ICOS and higher CTLA4 expression, indicating that the risk haplotypes contain functional variants. In summary, we identified a novel shared risk locus for IgAD, CVID and CD, the first report of association between CTLA4-ICOS and IgAD. Association between CD and CTLA4-ICOS was also confirmed in a large European data set.

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Section: Introductionmentioning

confidence: 99%

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency

et al. 2008

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“…6 Linkage of CD to this region was originally identified by Greco et al 7 and was also found by Naluai et al 8 and Liu et al 9 Evidence for a risk factor in 2q33 (CELIAC3), likely corresponding to the CTLA4/ICOS genes, comes from association studies mainly in Northern Europe populations. 10 The CELIAC4 locus was mapped to 19p13.1 with a maximum logarithm of odds score ¼ 4.43 in a cohort of 101 affected sib pairs belonging to 82 Dutch families. 11 However, this chromosomal location does not show any evidence for linkage (Zlr ¼ 1.65 for the peak marker D19S221) in the pooled families of the European Cluster study, 4 which does not include Dutch families.…”

Section: Introductionmentioning

confidence: 99%

A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population

et al. 2006

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Association between Myosin IXB (MYO9B) gene polymorphisms and celiac disease (CD) was recently detected by a casecontrol association study in the Dutch, but not confirmed in the British and Swedish/Norwegian populations. We tested the association between CD and the three most associated single nucleotide polymorphisms (SNPs) in the Dutch study by the transmission disequilibrium test in the Italian population. A total of 252 pediatric patients and 504 parents were genotyped. No transmission distortion was detected either for the single SNPs or for their haplotypic combinations. Control allele frequencies, calculated from untransmitted alleles, were significantly different from those of the Dutch control population. Conversely, allele frequencies were very similar in Italian, British, Swedish/Norwegian and Dutch patients. In conclusion, MYO9B is not involved in CD susceptibility in the Italian population. The difference with the Dutch result might be explained by an imperfect selection of the Dutch controls.

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“…This is the case of haplotypes DRB1*07-DQA1*0201-DQB1*0202 (DR7-DQ2) and DRB1*11-DQA1*0505-DQB1*03 (DR11-DQ2) (21,25,35) . DQ8 heterodimers are codified by alleles DQA1*0301 and DQB1*0302 and due to bonding unbalance, are transmitted together with allele DRB1*04, forming the haplotype known as DR4-DQ8 (17,36,38) .…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

Muniz

Sdepanian

Neto

2016

Arq. Gastroenterol.

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-Background -Celiac disease is a permanent intolerance induced by gluten, which is expressed by T-cell mediated enteropathy, and has a high prevalence in the general population. There is evidence of a strong genetic predisposition to celiac disease. Objective -To determine the prevalence of genetic markers HLA-DQ2 and HLA-DQ8 in blood donors from São Paulo and measure human recombinant tissue transglutaminase antibody IgA class in HLA-DQ2 and HLA-DQ8 positive donors.Methods -A total of 404 blood donors from São Paulo city and Jundiaí were included in the study and signed the informed consent form. Information regarding diarrhea, constipation and abdominal pain in the last 3 months was collected. Determination of HLADQ2 and HLADQ8 alleles was performed in all participants and human recombinant tissue transglutaminase antibody class IgA was measured only in blood donors who presentedDQ2 and/or DQ8. Results -HLADQ2 and/or HLADQ8 were positive in 49% (198/404) of subjects. Positive samples were associated with alleles DR3, DR4, DR7, DR11 and DR12. The most frequent genotype was DR4-DQ8, which was present in 13.6% of samples, followed by genotypes DR3-DQ2 and DR7-DQ2 with DQB1*02 in heterozygous, which were present in 10.4% and 8.7%, respectively. Eleven out of 198 positive donors (5%) were positive to human tissue transglutaminase test. Conclusion -We observed a high prevalence of genetic markers for celiac disease, HLA-DQ2 and HLA-DQ8, in blood donors from São Paulo, similar to prevalence described in Europe. These findings show that the prevalence of celiac disease should not be rare in our country, but underdiagnosed.

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Genetics in coeliac disease

Cited by 110 publications

References 90 publications

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency

A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

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