We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy.
- Authors
Buttini, S; Cappellano, G; Ripellino, P; Briani, C; Cocito, D; Osio, M; Cantello, R; Dianzani, U; Comi, C
- Abstract
Perforin (PRF) has a key role in the function of cytotoxic T and natural killer cells. Rare variations of PRF1 predispose to autoimmunity. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disease of the peripheral nervous system, involving defective lymphocyte apoptosis. The aim of this study was to investigate the role of PRF1 in CIDP. The entire coding region of PRF1 was sequenced in 94 patients and 158 controls. We found three missense variations leading to amino acid substitutions and one nonsense variation resulting in a premature stop codon. All variations would decrease PRF activity. Their overall frequency was significantly higher in patients than in controls (odds ratio (OR)=4.47). The most frequent variation was p.Ala91Val (OR=3.92) previously associated with other autoimmune diseases. Clinical analysis showed that PRF1 variations were more frequent in relapsing patients and in patients displaying axonal damage. These data suggest that PRF1 variations may influence CIDP development and course.
- Subjects
INFLAMMATORY bowel diseases; PERFORINS; AUTOIMMUNE diseases; AUTOIMMUNITY; DIAGNOSIS
- Publication
Genes & Immunity, 2015, Vol 16, Issue 1, p99
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/gene.2014.59