Genetic factors underlying gluten-sensitive enteropathy
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- Peña, A.S. & Wijmenga, C. Curr Allergy Asthma Rep (2001) 1: 526. doi:10.1007/s11882-001-0061-z
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Genetic epidemiology clearly has shown that there is a genetic predisposition to gluten-sensitive enteropathy (GSE), or celiac disease. The strong genetic component, as determined by the lambda sib (ls), has been calculated to lie in the range of 7.5 to 30, based on a 5% to 10% recurrence risk for siblings. Ninety-five percent of northern European patients with GSE carry a particular HLA-DQ ab heterodimer. Studies support the concept that the HLA-DQ gene acts as a dominant gene, and they also found that, in addition to HLA-DQ, a second locus within the major histocompatibility complex (MHC) is involved in the predisposition to GSE in the Dutch population. Genome scans conducted so far suggest that MHC and non-MHC loci collectively contribute to disease susceptibility. Since one, and probably even two, gene(s) from the MHC region itself determine at least 40% to 50% of the genetic predisposition to GSE, it is expected that the other loci each contribute only a little to the total genetic variation. The exact role of these additional genes (ie, whether they are involved in the initiation or the progression of the disease) remains to be determined.
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