Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Monsuur, Alienke J.; Bakker, Paul I. W. de; Alizadeh, Behrooz Z.; Zhernakova, Alexandra; Bevova, Marianna; Strengman, Eric; Franke, Lude; Slot, Ruben vanʼt; Belzen, Martine J. van; Lavrijsen, I.C.M.; Diosdado, Begoña; Daly, Mark J.; Mulder, Chris J.; Mearin, M. L.; Meijer, Jos W. R.; Meijer, Gerrit A.; Oort, Erica van; Wapenaar, Martin C.; Koeleman, Bobby P. C.; Wijmenga, Cisca

doi:10.1038/ng1680

Cited by 215 publications

(232 citation statements)

References 22 publications

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“…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: 53%

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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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Section: Resultssupporting

confidence: 53%

“…Recently, Monsuur et al 12 identified the myosin IXB gene (MYO9B) as the likely susceptibility gene CELIAC4 in the Dutch population. A highly significant association was detected by a case-control study with common variants in the 3 0 end of MYO9B.…”

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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“…The clinical characteristics of the patients (HbA 1c , plasma cholesterol, HDLcholesterol and triacyglycerol) were available, as well as the level of obesity in each individual given by the BMI (defined as weight [in kg] divided by height [in m] squared). The control cohort (n=920) was comprised of healthy blood bank donors of white Dutch origin [5]. Informed written consent was obtained from all individuals.…”

Section: Methodsmentioning

confidence: 99%

Association of variants of transcription factor 7-like 2 (TCF7L2) with susceptibility to type 2 diabetes in the Dutch Breda cohort

et al. 2006

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Aim/hypothesis A strong association between susceptibility to type 2 diabetes and common variants of transcription factor 7-like 2 (TCF7L2), encoding an enteroendocrine transcription factor involved in glucose homeostasis, has been reported in three different populations (Iceland, Denmark and USA) by Grant et al. We aimed to replicate these findings in a Dutch cohort. Methods We analysed the genotypes of two intronic single nucleotide polymorphisms (SNPs) in TCF7L2 gene in 502 unrelated type 2 diabetes patients and in a set of healthy controls (n=920). The two SNPs showed almost complete linkage disequilibrium (D′=0.91). Results We were able to replicate the previously reported association in our Breda cohort. The minor alleles of both variants were significantly over-represented in cases (odds ratio [OR] 1.29, 95% CI 1.09-1.52, p ¼ 3 Â 10 À3 for rs12255372; OR 1.41, 95% CI 1.19-1.66, p ¼ 4:4 Â 10 À5 for rs7903146). In addition, TCF7L2 haplotypes were analysed for association with the disease. The analysis of haplotypes did not reveal any strong association beyond that expected from analysing individual SNPs. The TT haplotype carrying the minor alleles was more frequent among cases (OR 1.38, p ¼ 2:7 Â 10 À3 ). Conclusions/interpretation Our data strongly confirm that variants of the TCF7L2 gene contribute to the risk of type 2 diabetes. The population-attributable risk from this factor in the Dutch type 2 diabetes population is 10%.

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“…The role of myosin IXb in dendritic spine morphogenesis is unknown but as RhoA seems to inhibit dendritic spine growth 138 , a protein inhibiting RhoA should have a positive effect on spine formation and maturation. Mutations in the MYO9B gene are associated with autoimmune diseases such as celiac disease 139 as well as schizophrenia 140 . The MYO9B gene was also identified in an ASD whole-exome sequencing study and subsequent TADA analysis as a gene strongly enriched for variants likely to affect ASD risk 43 .…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Dendritic spine actin cytoskeleton in autism spectrum disorder

Joensuu¹,

Lanoue

Hotulainen

2018

Progress in Neuro-Psychopharmacology and Biological Psychiatry

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Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Cited by 215 publications

References 22 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

Association of variants of transcription factor 7-like 2 (TCF7L2) with susceptibility to type 2 diabetes in the Dutch Breda cohort

Dendritic spine actin cytoskeleton in autism spectrum disorder

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