Key gene in development of celiac disease has been found in 'junk' DNA

It has been known for some time that celiac disease develops in people who have a genetic susceptibility, but despite the fact that 40% of the population carry the most decisive risk factor (the HLA-DQ2 and DQ8 polymorphisms), only 1% go on to develop the disease. 

A key gene in the regulating of the inflammatory response observed in celiac patients has been found in one of the regions of the junk genome: it is the 1nc13. The ribonucleic acid produced by this gene belongs to the family of long, non-coding RNAs or lncRNA and is responsible for maintaining the normal levels of expression of pro-inflammatory genes. In celiacs, this non-coding RNA is hardly produced at all so the levels of these inflammatory genes are not properly regulated and their expression is increased. But besides being produced in low quantities, the 1nc13 produced by celiac patients has a variant that alters the way it functions. 

This study confirms the importance of the regions of the genome previously regarded as ‘junk’ in the development of common complaints such as celiac disease and opens up the door to a new possibility for diagnosis. 


source: science magazine

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