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Online Mendelian Inheritance in Man (OMIM)

  • ️Thu May 14 2009

% 612009

CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11

Alternative titles; symbols

GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 11

DO: 10608;  

Cytogenetic location: 3q28 Genomic coordinates (GRCh38) : 3:188,200,001-192,600,000

Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3q28 {Celiac disease, susceptibility to, 11} 612009 2

TEXT

Description

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 information and a discussion of genetic heterogeneity of celiac disease, see 212750.

Mapping

The form of susceptibility to celiac disease here designated CELIAC11 is influenced by genetic variation in the 3q28 region, within a linkage disequilibrium (LD) block near the LPP (600700) gene.

To identify risk variants contributing to celiac disease susceptibility other than those in the HLA-DQ region (see CELIAC1, 212750) Hunt et al. (2008) genotyped 1,020 of the most strongly associated non-HLA markers identified by van Heel et al. (2007) in an additional 1,643 cases of celiac disease and 3,406 controls. Multiple correlated single-nucleotide polymorphisms (SNPs) within a 70-kb LD block on chromosome 3q28, e.g., rs1464510 (P overall = 5.33 x 10(-9)), showed association with celiac disease. This block is either 5-prime of the LPP gene (600700) or intronic for other possible isoforms of LPP. The LPP gene shows very high expression in the small intestine and may have a structural role at sites of cell adhesion in maintaining cell shape and motility.

In an Italian cohort involving 538 patients with celiac disease and 593 healthy controls, Romanos et al. (2009) confirmed moderate association at rs1464510 (p = 0.0348).

REFERENCES

  1. 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]

  2. Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A. R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., Gwilliam, R., Takeuchi, F., and 25 others. Newly identified genetic risk variants for celiac disease related to the immune response. Nature Genet. 40: 395-402, 2008. [PubMed: 18311140] [Full Text: https://doi.org/10.1038/ng.102]

  3. Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M. T., Wijmenga, C. Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease. J. Med. Genet. 46: 60-63, 2009. [PubMed: 18805825] [Full Text: https://doi.org/10.1136/jmg.2008.061457]

  4. van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nature Genet. 39: 827-829, 2007. [PubMed: 17558408] [Full Text: https://doi.org/10.1038/ng2058]

Contributors:

Marla J. F. O'Neill - updated : 5/14/2009

Creation Date:

Ada Hamosh : 4/24/2008

Edit History:

mcolton : 11/26/2013
wwang : 6/1/2009
terry : 5/14/2009
carol : 1/8/2009
alopez : 4/24/2008
alopez : 4/24/2008