Also by this Author
Research published in Nature Genetics from the laboratories of Peter A. Nigrovic, MD, and Soumya Raychaudhuri, MD, PhD, provides new methods developed in the investigators’ labs at Harvard Medical School to successfully identify genetic variants responsible for common autoimmune diseases, including rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA). Both studies employ distinct approaches to the same challenge: identifying non-coding causal variants.
A Pathway to Rheumatic Disease Origin
Both studies address how to make sense of genome-wide association studies (GWAS). GWAS in RA and JIA have implicated more than 100 chromosomal loci in the genesis of these diseases, but in most cases how these loci predispose to illness is unclear.
“Most GWAS ‘hits’ contain multiple genes, and in the large majority of cases none of these candidates contains mutations that alter protein sequence. In other words, most GWAS signal arises through regulatory rather than coding variants,” Dr. Nigrovic explains. “Unfortunately, each locus contains many genetic polymorphisms that could potentially have regulatory function, leaving related disease mechanisms obscure.”