Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis.
A recent association study has provided evidence that chromosome 10q22.1 may contain candidate genes for multiple sclerosis (MS). We analysed two intronic and a non-synonymous single nucleotide polymorphism (SNP) of the C10orf27 gene in 571 patients with MS (relapsing remitting and primary progressive) and healthy controls. Adjusted comparisons revealed significant association with disease susceptibility for one intronic SNP in RRMS individuals and the amino acid modifying SNP for PPMS cases; the latter may also contribute to faster disease progression. Transcript expression in brain lesions from MS patients was increased. These findings suggest C10orf27 as a candidate gene for MS susceptibility and pathogenesis.
Goertsches
Robert
R
Unitat de Neuroimmunologia Clínica, Hospital Universitari Vall d'Hebron (HUVH), 08035 Barcelona, Spain. robert.goertsches@med.uni-rostock.de
Baranzini
Sergio E
SE
Morcillo
Carlos
C
Nos
Carlos
C
Camiña
Montse
M
Oksenberg
Jorge R
JR
Montalban
Xavier
X
Comabella
Manuel
M
D002879:Chromosomes, Human, Pair 10; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D020528:Multiple Sclerosis, Chronic Progressive / Q000235:genetics*; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics*; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C530339:TBATA protein, human