Genes and celiac disease

Autor: Smiljana Ristić, Vanja Licul, Brankica Mijandrušić-Sinčić, Miljenko Kapović, Nada Starčević Čizmarević
Rok vydání: 2015
Předmět:
Zdroj: Paediatria Croatica
Volume 59
Issue 2
ISSN: 1330-1403
1846-405X
DOI: 10.13112/pc.2015.14
Popis: Celijakija je bolest poremećenog imunosnog odgovora potaknutog glutenom koja se javlja u genetički predisponiranih osoba. Svrha ovog rada je prikazati dosadašnje spoznaje iz genetike celijakije. Genska podloga celijakije vezana za lokus humanih leukocitnih antigena kao dominantnog genetičkog elementa detaljno je razjašnjena. No postoji i velik broj gena izvan ove regije koji pridonose etiopatogenezi bolesti, a samo su dijelom zajednički pojedinim bolesnicima, što upućuje na genetičku heterogenost bolesti. Uz to je opaženo da su mnogi od tih rizičnih lokusa u celijakiji zajednički s lokusima za druge autoimunosne bolesti. Značajan doprinos novim spoznajama daju recentne cjelogenomske asocijacijske studije, ali tek treba istražiti velik dio još i sad nepoznate heritabilnosti u celijakiji.
Celiac disease is a chronic infl ammatory disease of the small intestine triggered by gluten intake, which occurs in genetically susceptible individuals. The purpose of this paper is to present recent fi ndings in the genetics of celiac disease. Genetic background of celiac disease related to human leukocyte antigen locus (HLA) as a dominant genetic element has been well described. However, the existence of a large number of non-HLA celiac disease genes, only partly shared by each individual patient, suggests genetic heterogeneity of the disease. In addition, it has been observed that many of these risk loci in celiac disease are common with the loci for other autoimmune diseases. A signifi cant contribution to our knowledge has been provided by recent genome-wide association studies, but great part of the still unknown heritability in celiac disease is yet to be explored in the future.
Databáze: OpenAIRE