Genotypes in ANCA-Associated Vasculitis May Guide Therapy

Direct clinical implications of this study in terms of disease classification or diagnosis are premature, given that the data indicate that carriers of certain SNPs have only a slightly or moderately increased probability of having a subtype of a rare disease for which the general likelihood is already very low. But despite these limitations, the findings represent a major step forward, Dr. Maria C. Cid wrote in an accompanying editorial.

The findings also pose interesting questions for future studies, she said.

"Patients with the Churg-Strauss syndrome, ANCA-negative patients, and patients of different ethnic groups are interesting populations to be explored," she said (N. Engl. J. Med. 2012 July 19 [doi: 10.1056/NEJMe1203592]).

Fine mapping of selected regions, along with the search for rare SNPs, SNPs influencing severity, and non-SNP variants might also provide interesting information, she added, noting that the collaborative network supporting the study "provides a strong basis for more comprehensive studies with new-generation technologies."

Dr. Cid is with the University of Barcelona and Institut d’Investigacions Biomediques August Pi i Sunyer. She reported having financial relationships with Bristol-Myers-Squibb, Centocor, and Roche.