Meta and pooled analysis of European coeliac disease data

Babron, Marie‐Claude; Nilsson, Staffan; Adamovic, Svetlana; Naluai, Åsa Torinsson; Wahlström, Jan; Ascher, Henry; Ciclitira, Paul J.; Sollid, Ludvig M.; Partanen, Jukka; Greco, Luigi; Clerget‐Darpoux, Françoise

doi:10.1038/sj.ejhg.5201051

Cited by 82 publications

(58 citation statements)

References 30 publications

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“…These regions are 5q31F33, where linkage has been verified in several different independent populations 64,65 and 19p13.1 which show linkage in the Dutch population. 73 One would think that these regions should be the first place to look for susceptibility genes.…”

Section: Future Challengesmentioning

confidence: 79%

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Searching for genes influencing a complex disease: the case of coeliac disease

et al. 2007

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Recently, a few genes have been reported to be causative in inflammatory diseases. Still, we are waiting for the vast majority to be discovered. New tools for genotyping and statistical analysis have been developed and emphasis has been put on study design. Coeliac disease (CD) is a disorder, where prolamins in dietary wheat gluten and related proteins from rye or barley are not tolerated. It is one of the most common chronic diseases in humans exceeding a population prevalence of 1%. In this article, we will summarise what is currently known about the genetics influencing CD with the emphasis on the non-HLA genetic component. We will discuss some difficulties when searching for susceptibility genes in disorders with complex inheritance patterns.

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Section: Future Challengesmentioning

confidence: 79%

“…64 These were the second, third, fourth and fifth studies published. 62,66,68,69 The raw data consisted of genotypes from 442 families; 2025 individuals of whom 1056 are affected.…”

Section: Epidemiology Population Geneticsmentioning

confidence: 97%

Searching for genes influencing a complex disease: the case of coeliac disease

et al. 2007

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“…Thus, heterogeneity in this gene's involvement in CD in the two populations could be suspected as also suggested by the different linkage results. 11,4 However, the lack of replication in the British and Swedish/Norwegian studies, 13 along with the observation that that marker distributions are more similar across the four patient samples than across the control samples, makes the possibility of a spurious result in the Dutch population more likely. If this is true, our efforts for unraveling the non-HLA CD genetic component and for understanding the pathogenesis of CD must again be redirected.…”

Section: Resultsmentioning

confidence: 99%

“…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: 86%

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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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Molecular Genetics of Coeliac Disease

Mistry

Heel

2011

Encyclopedia of Life Sciences

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Coeliac disease (CD) is a common inflammatory disease of the small intestine. It has a prevalence of 1% in the population and is strongly heritable. Current germline disease risk variants explain ∼50% of known heritability, the majority contributed by a strong human leukocyte antigen (HLA)‐DQ association. The role of HLA‐DQ in the immunology of CD is well understood, for example the role of tissue transglutaminase and HLA‐DQ in modifying and binding immuno‐dominant dietary cereal (gluten) peptides. Genome‐wide association studies have found 39 loci with risk variants of more modest effect. The use of high‐throughput sequencing technologies to locate rare variants of larger effect may aid in the complete resolution of this complex trait, as well as in other autoimmune diseases, which show considerable overlap in immunological pathways. Key Concepts: Coeliac disease has a strong genetic component with an environmental trigger, gluten. Coeliac disease shows strong HLA association, which is necessary but not sufficient for disease development. Genome‐wide association studies have located common variants of modest effect size. Rare variants with larger effect are hypothesised to contribute to common complex disease. Exome sequencing a large number of individuals from multigenerational families might isolate precise causal variants.

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Meta and pooled analysis of European coeliac disease data

Cited by 82 publications

References 30 publications

Searching for genes influencing a complex disease: the case of coeliac disease

Searching for genes influencing a complex disease: the case of coeliac disease

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

Molecular Genetics of Coeliac Disease

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