Unraveling the molecular genetic aspects of intestinal inflammatory disorders

摘要: Celiac disease is characterized by a chronic immune reaction in the small intestine to gluten proteins that are present grains eaten Western diet. Its prevalence around 1% although many patients fact never diagnosed. suffer from all kinds of symptoms related malfunctioning intestine, but it now becoming increasingly apparent disorder also systemic. caused alterations multiple genes (susceptibility) combined with environmental factors. It known some variants HLA-DQA1 and -DQB1 genes, e.g. DQ2.5, DQ7 DQ8, form involved celiac because they have ability cells system. Although these particular gene important - over 25% general population there must be other necessary induce disease. We searched extensively for found myosin IXB disease, probably enhancing permeability intestinal barrier. After finding this we decided search barrier, so-called tight-junction genes. 40 two showed association increased our understanding complex genetic disorders since noticed show an overlap causal therefore tested their involvement disorders, Crohn's ulcerative colitis three colitis. Besides searching new looked at HLA variants. Since widely under diagnosed, consider would good screen relatives patients, or may even whole population, The first step test thereby exclude those not risk (˜75% population). tests simple developed new, cost-effective method variants, using SNPs linkage disequilibrium Our next goal learn more about function order pinpoint possible therapies In addition, need discover how interact each other. hope will expand testing reduce number undiagnosed patients.