Microarray expression analysis of PRF1 (perforin 1) haplotypes in patients with primary progressive multiple sclerosis

A genetic study of the PRF1 gene has shown association of several polymorphisms with multiple sclerosis (MS). Haplotype analysis identified risk haplotypes strongly associated with male patients having the primary-progressive form of MS (PPMS). Gene expression microarrays were performed in 10 male PPMS patients carrying the risk (n=6) and protective haplotypes (n=4) in order to identify pathways associated with the risk haplotypes. Pathway analysis revealed overrepresentation of the cell killing gene ontology category among down-regulated genes in patients carrying risk haplotypes compared with patients carrying protective haplotypes.

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Camiña-Tato M, Morcillo-Suárez C, Bustamante MF, Ortega I, Navarro A, Muntasell A, López-Botet M, Sánchez A, Carmona P, Julià E, Tortola MT, Audí L, Oksenberg JR, Martin R, Montalban X, Comabella M