Alternative titles; symbols
Cytogenetic location: 19p13.1 Genomic coordinates (GRCh38) : 19:12,600,001-19,900,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 19p13.1 | {Celiac disease, susceptibility to, 4} | 609753 | Multifactorial | 3 |
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional phenotypic information and a discussion of genetic heterogeneity of celiac disease, see 212750.
Van Belzen et al. (2003) performed a genomewide screen in an effort to identify non-HLA genes involved in celiac disease. They obtained strong evidence for linkage (multiple maximum lod score 4.43) to 19p13.1 in celiac disease in a cohort of affected sib pairs of European descent from the Netherlands. This chromosomal location was also suggested by meta and pooled analyses of European celiac disease data that did not include the Dutch cohort (Babron et al., 2003).
Reclassified Variants
The rs2305764 variant in the MYO9B gene (609129.0001) that was identified by Monsuur et al. (2005) as a susceptibility variant for CELIAC4 has been reclassified as a polymorphism.
Babron, M.-C., Nilsson, S., Adamovic, S., Naluai, A. T., Wahlstrom, J., Ascher, H., Ciclitira, P. J., Sollid, L. M., Partanen, J., Greco, L., Clerget-Darpoux, F., European Genetics Cluster on Coeliac Disease. Meta and pooled analysis of European coeliac disease data. Europ. J. Hum. Genet. 11: 828-834, 2003. [PubMed: 14571266] [Full Text: https://doi.org/10.1038/sj.ejhg.5201051]
Farrell, R. J., Kelly, C. P. Celiac sprue. New Eng. J. Med. 346: 180-188, 2002. [PubMed: 11796853] [Full Text: https://doi.org/10.1056/NEJMra010852]
Monsuur, A. J., de Bakker, P. I. W., Alizadeh, B. Z., Zhernakova, A., Bevova, M. R., Strengman, E., Franke, L., van't Slot, R., van Belzen, M. J., Lavrijsen, I. C. M., Diosdado, B., Daly, M. J., Mulder, C. J. J., Mearin, M. L., Meijer, J. W. R., Meijer, G. A., van Oort, E., Wapenaar, M. C., Koeleman, B. P. C., Wijmenga, C. Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. Nature Genet. 37: 1341-1344, 2005. [PubMed: 16282976] [Full Text: https://doi.org/10.1038/ng1680]
van Belzen, M. J., Meijer, J. W. R., Sandkuijl, L. A., Bardoel, A. F. J., Mulder, C. J. J., Pearson, P. L., Houwen, R. H. J., Wijmenga, C. A major non-HLA locus in celiac disease maps to chromosome 19. Gastroenterology 125: 1032-1041, 2003. [PubMed: 14517787] [Full Text: https://doi.org/10.1016/s0016-5085(03)01205-8]