Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families

Greco, Luigi; Babron, Marie‐Claude; Corazza, G.R.; Percopo, S.; Sica, Raffaella; Clot, Fabienne; Fulchignoni-Lataud, Marie-Claude; Zavattari, Patrizia; Momigliano–Richiardi, Patricia; Casari, Giorgio; Gasparini, Paolo; Tosi, Roberto; Mantovani, Vilma; Virgiliis, S. De; Iacono, Giuseppe; D'Alfonso, Anna; Selinger-Leneman, Hana; Lemainque, Arnaud; Serre, J. L.; Clerget‐Darpoux, Françoise

doi:10.1046/j.1469-1809.2001.6510035.x

Cited by 78 publications

(56 citation statements)

References 22 publications

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“…Indeed, in the two Italian studies, the maximum MLS values were obtained for markers in two adjacent bins, bin 40 in the genome scan (MLS ¼ 2.0 for D5S2006) and in bin 39 in the replication study (MLS ¼ 1.06 for D5S640). However, we had shown 7 that under the hypothesis of a genetic risk factor with moderate effect, the probability of observing two peaks at a distance of 35 cM was not negligible and that the 95% confidence interval of the maximum MLS spanned the entire interval tested. Weighting each rank to take into account the linkage information provided by each sample is fairly intuitive.…”

Section: Discussionmentioning

confidence: 99%

“…21 The Italian sample consists of 103 families from the genome-wide scan 3 and 83 families from a replication study. 7 The Scandinavian sample includes 60 families.…”

Section: Family Datamentioning

confidence: 99%

“…While each study highlighted regions of interest, none of them achieved the genomewide level of significance, except for the HLA region. Regions of interest were further investigated without definite conclusions, 7 -10 even if region 5q, originally found in the Italian genome scan 7 gave repeatedly moderate evidence for linkage. The interpretation of regions that coincide is, however, not so easy to do.…”

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Meta and pooled analysis of European coeliac disease data

et al. 2003

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Four full genome scans have been carried out by the partners of the European cluster on coeliac disease as well as follow-up studies of candidate regions. No region outside HLA showed significant linkage to the disease in any single study. We first applied a meta-analysis based on a modification of Genome Screen Meta-Analysis to take into account the different linkage statistics, the arbitrariness of bin cutoff points, as well as the sample size of each study. We then performed a pooled linkage analysis of all families and raw genotypes. Besides the HLA region, already known to harbour a risk factor for coeliac disease, both approaches leave very little doubt on the presence of a genetic risk factor in the 5q31 -33 region. This region was suggested by several individual studies, but did not reach statistical values high enough to be conclusive when data sets were analysed separately.

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Section: Discussionmentioning

confidence: 99%

“…21 The Italian sample consists of 103 families from the genome-wide scan 3 and 83 families from a replication study. 7 The Scandinavian sample includes 60 families.…”

Section: Family Datamentioning

confidence: 99%

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confidence: 99%

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Meta and pooled analysis of European coeliac disease data

et al. 2003

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“…Since HLA-DQ alleles account for only approximately 40% of the genetic susceptibility to CD, extensive efforts have been made to identify additional genes associated with CD, most recently with the use of genome-wide screening approaches (33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43). Candidate genetic regions that possibly increase CD susceptibility have been noted in some populations on chromosomes 2, 3, 4, 5, 6 (telomeric of the HLA locus), 9, 11, 18, and 19 (33-43).…”

Section: Figurementioning

confidence: 99%

Celiac disease: pathogenesis of a model immunogenetic disease

Kagnoff¹

2007

J. Clin. Invest.

333

238

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Celiac disease is characterized by small-intestinal mucosal injury and nutrient malabsorption in genetically susceptible individuals in response to the dietary ingestion of wheat gluten and similar proteins in barley and rye. Disease pathogenesis involves interactions among environmental, genetic, and immunological factors. Although celiac disease is predicted by screening studies to affect approximately 1% of the population of the United States and is seen both in children and in adults, 10%-15% or fewer of these individuals have been diagnosed and treated. This article focuses on the role of adaptive and innate immune mechanisms in the pathogenesis of celiac disease and how current concepts of immunopathogenesis might provide alternative approaches for treating celiac disease.

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“…2 Several genome-wide linkage screens have pointed out non-HLA candidate regions; some regions have shown linkage in several studies whereas others have not. The chromosomal region 5q31 -33 was initially pointed out in Italian cohorts, 3,4 and thereafter in three subsequent linkage studies. 5 -7 In addition, a pooled analysis using raw data from four independent genome scans, including the Swedish/Norwegian data, further confirmed linkage to this region.…”

Section: Introductionmentioning

confidence: 99%

A comprehensive screen for SNP associations on chromosome region 5q31–33 in Swedish/Norwegian celiac disease families

et al. 2007

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Celiac disease (CD) is a gluten-induced enteropathy, which results from the interplay between environmental and genetic factors. There is a strong human leukocyte antigen (HLA) association with the disease, and HLA-DQ alleles represent a major genetic risk factor. In addition to HLA-DQ, non-HLA genes appear to be crucial for CD development. Chromosomal region 5q31-33 has demonstrated linkage with CD in several genome-wide studies, including in our Swedish/Norwegian cohort. In a European metaanalysis 5q31 -33 was the only region that reached a genome-wide level of significance except for the HLA region. To identify the genetic variant(s) responsible for this linkage signal, we performed a comprehensive single nucleotide polymorphism (SNP) association screen in 97 Swedish/Norwegian multiplex families who demonstrate linkage to the region. We selected tag SNPs from a 16 Mb region representing the 95% confidence interval of the linkage peak. A total of 1404 SNPs were used for the association analysis. We identified several regions with SNPs demonstrating moderate single-or multipoint associations. However, the isolated association signals appeared insufficient to account for the linkage signal seen in our cohort. Collective effects of multiple risk genes within the region, incomplete genetic coverage or effects related to copy number variation are possible explanations for our findings.

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Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families

Cited by 78 publications

References 22 publications

Meta and pooled analysis of European coeliac disease data

Meta and pooled analysis of European coeliac disease data

Celiac disease: pathogenesis of a model immunogenetic disease

A comprehensive screen for SNP associations on chromosome region 5q31–33 in Swedish/Norwegian celiac disease families

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