Association Analysis of MYO9B Gene Polymorphisms with Celiac Disease in a Swedish/Norwegian Cohort

Amundsen, Silja Svanstrøm; Monsuur, Alienke J.; Wapenaar, Martin C.; Lie, Benedicte A.; Ek, Johan; Gudjonsdottir, Audur H.; Ascher, Henry; Wijmenga, Cisca; Sollid, Ludvig M.

doi:10.1016/j.humimm.2006.03.020

Cited by 49 publications

(37 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Similarly to the other tested populations, we observed a strong positive LD between the A alleles of the three SNPs (rs962917 vs rs1457092: D In order to compare directly our results with those obtained in the Dutch, British and Norwegian/Swedish case-control association studies, [12][13][14] we calculated the frequencies of the transmitted and untransmitted alleles, which represent the allele frequencies in Italian cases and controls, respectively. Allele frequencies from the CEU (CEPH-UTAH) population typed in the HapMap (www.hapmap.org/) were also considered for comparison to an additional European population.…”

Section: Resultssupporting

confidence: 51%

“…However, this association was not confirmed in a case-control study in a large British cohort 13 and in a family-based and case-control association study in the Swedish/Norwegian population. 14 The lack of confirmation could be explained either by a false positive in the Dutch study or by genetic heterogeneity between the Dutch and the other two populations. Further association studies in different populations are necessary to resolve whether MYO9B variants truly predispose one to CD.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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: Resultssupporting

confidence: 51%

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

View full text Add to dashboard Cite

show abstract

“…Furthermore, the genes in these regions and the possible mechanisms by which they might contribute to disease susceptibility currently are not known, although some of these regions also have been associated with other autoimmune or inflammatory diseases. Recently, a variant of the gene encoding myosin IXB was proposed as an important CD risk factor in a Dutch cohort of patients with CD (44), but this has proven controversial, as marked increases in variants of the same gene were not found in either British or Norwegian/Swedish cohorts (45,46). Although there are likely to be a number of different genes involved in CD susceptibility, it is possible that these vary in their contribution to disease susceptibility among different individuals, making them hard to identify.…”

Section: Figurementioning

confidence: 99%

Celiac disease: pathogenesis of a model immunogenetic disease

Kagnoff¹

2007

J. Clin. Invest.

330

238

View full text Add to dashboard Cite

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.

show abstract

“…14,21,22 The regions, other than HLA, 7q31-31 and 10p13-p11 that were identified more than once with at least nominal evidence for linkage were 5q31, 18,19 30 However, in studies of a Swedish/Norwegian cohort and a British cohort, there was no association of MYO9B and CD. 31,32 The genome-wide linkage analysis reported here represents one of the largest such studies of CD reported to date, and in an ethnically homogeneous sample. It is clear that after accounting for HLA, there is genetic heterogeneity for CD.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide linkage analysis of 160 North American families with celiac disease

et al. 2006

View full text Add to dashboard Cite

Celiac disease (CD) is a common autoimmune disease caused by exposure to the protein gliadin in wheat, and related prolamins in barley and rye. The prevalence of the disease in the US is 1:133. The aim of this study was to identify non-human leukocyte antigen (HLA) loci that predispose to CD. A genome-wide search of 405 microsatellite markers was performed on DNA samples from 160 families with a minimum of two cases of CD. Multipoint, parametric and non-parametric linkage (NPL) analyses were performed. Locations on chromosomes 1q, 3q, 6p, 6q, 7q, 9q and 10q showed linkage statistics (NPL scores or heterogeneity logarithm of the odds (HLOD) scores) of approximately 2.0 or larger. The greatest evidence for linkage outside of chromosome 6 was on 7q and 9q. An NPL score of 2.60 occurred at position 151.0 on 7q and a HLOD score of 2.47 occurred at position 144.8 on 9q under a recessive model. As expected, there was highly significant linkage to the HLA region on 6p, with NPL and HLOD scores exceeding 5.50. In conclusion, this genome-wide linkage analysis represents one of the largest such studies of CD. The most promising region is a putative locus on 7q, a region reported independently in previous genome-wide searches.

show abstract

Association Analysis of MYO9B Gene Polymorphisms with Celiac Disease in a Swedish/Norwegian Cohort

Cited by 49 publications

References 18 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

Celiac disease: pathogenesis of a model immunogenetic disease

Genome-wide linkage analysis of 160 North American families with celiac disease

Contact Info

Product

Resources

About