Genome Search in Celiac Disease

Greco, Luigi; Corazza, Gino Roberto; Babron, Marie‐Claude; Clot, Fabienne; Fulchignoni-Lataud, Marie Claude; Percopo, S.; Zavattari, Patrizia; Bouguerra, F.; Dib, Colette; Tosi, Roberto; Troncone, Riccardo; Ventura, Alessandro; Mantavoni, Wilma; Magazzù, Giuseppe; Gatti, Rosanna; Lazzari, R; Giunta, Annamaria; Perri, Francesco; Iacono, Giuseppe; Cardi, E; Virgiliis, Stefano De; Cataldo, F; Angelis, G. De; Musumeci, S; Ferrari, Roberto; Balli, Fiorella; Bardella, Maria Teresa; Volta, Umberto; Catassi, Carlo; Torre, Giuliano; Eliaou, J.-F.; Serre, J. L.; Clerget‐Darpoux, Françoise

doi:10.1086/301754

Cited by 179 publications

(137 citation statements)

References 16 publications

Supporting

Mentioning

123

Contrasting

Unclassified

Order By: Relevance

“…5 Apart from the HLA region, only 5q31-33, with a maximum Zlr ¼ 4.39 (P ¼ 6 Â 10 À6 ), showed genome-wide significant linkage according to standard thresholds. 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.…”

Section: Introductionmentioning

confidence: 76%

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

et al. 2006

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 76%

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

et al. 2006

View full text Add to dashboard Cite

show abstract

“…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. The results pointed to chromosome 5q31 -33 as being the only significant locus in these families apart from HLA ( Figure 2 Figure 1 The HLA-DQ2 ab heterodimer encoded in cis and in trans.…”

Section: Epidemiology Population Geneticsmentioning

confidence: 99%

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

et al. 2007

View full text Add to dashboard Cite

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.

show abstract

“…An alteration in the terminal portion of chromosome 5 has been identified as a risk factor for both symptomatic and silent forms of CD, whereas a change in the terminal portion of the chromosome 11 possibly differentiates the two forms. 8 Among the candidate genes, there is also a CD28/CTLA4 region on chromosome 2 that encodes receptors regulating T-lymphocyte activation. 9 Recently, multiple genetic loci have been implicated in CD pathogenesis, but their impact on the development of the disease seems to be limited as compared to that of the HLA system.…”

Section: Introductionmentioning

confidence: 99%

Celiac disease: diagnostic criteria in progress

2011

View full text Add to dashboard Cite

Until a few years ago, celiac disease (CD) was thought to be a rare food intolerance that was confined to childhood and characterized by severe malabsorption and flat intestinal mucosa. Currently, CD is regarded as an autoimmune disorder that is common in the general population (affecting 1 in 100 individuals), with possible onset at any age and with many possible presentations. The identification of CD is challenging because it can begin not only with diarrhea and weight loss but also with atypical gastrointestinal (constipation and recurrent abdominal pain) and extra-intestinal symptoms (anemia, raised transaminases, osteoporosis, recurrent miscarriages, aphthous stomatitis and associated autoimmune disorders), or it could be completely symptomless. Over the last 20 years, the diagnostic accuracy of serology for CD has progressively increased with the development of highly reliable tests, such as the detection of IgA tissue transglutaminase and antiendomysial and IgG antideamidated gliadin peptide antibodies. The routine use of antibody markers has allowed researchers to discover a very high number of 'borderline' cases, characterized by positive serology and mild intestinal lesions or normal small intestine architecture, which can be classified as potential CD. Therefore, it is evident that the 'old celiac disease' with flat mucosa is only a part of the spectrum of CD. It is possible that serology could identify CD in its early stages, before the appearance of severe intestinal damage. In cases with a positive serology but with mild or absent intestinal lesions, the detection of HLA-DQ2 and HLA-DQ8 can help reinforce or exclude the diagnosis of gluten sensitivity.

show abstract

Genome Search in Celiac Disease

Cited by 179 publications

References 16 publications

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

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

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

Celiac disease: diagnostic criteria in progress

Contact Info

Product

Resources

About