Alternative titles; symbols
DO: 10608;
Cytogenetic location: 15q11-q13 Genomic coordinates (GRCh38): 15:19,000,001-33,400,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 15q11-q13 | {Celiac disease, susceptibility to, 5} | 607202 | 2 |
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.
Attempting to overcome the problem confronting whole genome screens arising from genetic heterogeneity in a study of susceptibility to celiac disease, Woolley et al. (2002) performed a genomewide scan in a Finnish subpopulation expected to be more homogeneous than the general population of Finland. The families in their study originated from the northeastern part of Finland, the Koilliskaira region, which had been relatively isolated since its founding in the 16th century. Genealogic studies confirmed that the families studied shared a common ancestor in the 16th century. Nine families with a total of 23 patients were genotyped for 399 microsatellite markers and the data were analyzed with parametric linkage analysis using 2 dominant and 1 recessive model. A region on chromosome 15q11-q13 was implicated with a lod score of 3.14 using a highly penetrant dominant model. Addition of more markers and one more sib pair increased the lod score to 3.74. This result gave preliminary evidence for existence of a susceptibility factor in this chromosomal region.
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]
Woolley, N., Holopainen, P., Ollikainen, V., Mustalahti, K., Maki, M., Kere, J., Partanen, J. A new locus for coeliac disease mapped to chromosome 15 in a population isolate. Hum. Genet. 111: 40-45, 2002. [PubMed: 12136234] [Full Text: https://doi.org/10.1007/s00439-002-0745-z]