24 May 2013 - 24 May 2013 - Scientists from UK Queen Mary, University of London have completed the largest sequencing study of human disease so far, examining the genetic basis of six autoimmune diseases, according to the university's website.

Particularly, the researchers used high-throughput sequencing technologies to investigate autoimmune thyroid disease, coeliac disease, Crohn's disease, psoriasis, multiple sclerosis and Type 1 diabetes to determine new variants in 25 already identified risk genes in a sample of nearly 42,000 patients.

The results indicate that the genetic risk of these diseases rather involves a complex combination of hundreds of weak-effect variants which are each common in the population than a small number of rare variants in risk genes, as believed so far. Moreover, according to the research team, rare variants in these risk genes represent around 3% of the heritability of these conditions that can be explained by common variants.

''The results prompt a re-assessment of the genetic architecture that determines risk for development of common auto-immune disorders and will fuel future careful assessment of regions of the human genome beyond those presently known to confer susceptibility to these important medical conditions,'' said Prof. Richard Trembath, vice principal and executive dean for health at Barts and The London School of Medicine and Dentistry, Queen Mary.