Çocuk Sağlığı ve Hastalıkları Dergisi 2003 , Vol 46 , Num 1
Molecular genetic fundaments of celiac disease
Cemal Ün1, Sema Aydoğdu2
GSF National Research Center for Enviroment and Health 1Institute of Development Genetics Doktoru (PhD),
Ege Üniversitesi Tıp Fakültesi 2Pediatri Doçenti
Celiac disease (CD), the most common food sensitive enteropathy in humans is a disease affecting mainly the proximal small intestine due to a permanent intolerance to proteins of gluten, contained in certain cereals (wheat, rye, barley, oat). The severity of the gastrointestinal symptoms varies according to age at diagnosis. In children, chronic diarrhea, failure to thrive, abdominal distention and iron deficiency are usually present. After childhood, the clinical picture of CD is often less typical and has a more moderate symptomatology. The prevalence of CD is about 1/200 to 1/1000 in the European population and 1/250 in the United States. From the genetic point of view, CD is a multifactorial disease, involving both genetic and environmental factors. In the last few years a number of studies in different populations have been carried out using molecular genetic methods like linkage analysis and candidate gene analysis to identify genes causing celiac disease. One susceptibility locus is the MHC region, with a particular association with the HLA-DQ alleles DQA1*0501 and DQB1*0201. However, haplotype sharing studies suggest that genes within the MHC complex contribute no more than 40% to the sibling familial risk of disease. Anahtar Kelimeler : çölyak hastalığı, bağlantı analizi, aday gen, lokus, celiac disease, linkage analysis, candidate gene, locus
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