RT Journal Article
T1 The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.
A1 Alcina, Antonio
A1 Vandenbroeck, Köen
A1 Otaegui, David
A1 Saiz, Alberto
A1 González, José Ramón
A1 Fernández Fernández, Óscar
A1 Cavanillas, María L
A1 Cénit, María C
A1 Arroyo, Rafael
A1 Alloza, Iraide
A1 Garcia-Barcina, María
A1 Antigüedad, Alfredo
A1 Leyva-Fernández, Laura
A1 Izquierdo, Guillermo
A1 Lucas, Miguel
A1 Fedetz, María
A1 Pinto-Medel, María Jesús
A1 Olascoaga, Javier
A1 Blanco, Yolanda
A1 Comabella, Manuel
A1 Montalbán, Xavier
A1 Urcelay, Elena
A1 Matesanz, Fuencisla
K1 Esclerosis múltiple
AB Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single- nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P= 0.001, odds ratio (OR) 1.13, 95% confidence interval (CI) 1.05–1.23); rs3184504 in SH2B3 (P= 0.00001, OR 1.19, 95% CI 1.10–1.27) and rs763361 in CD226 (P= 0.00007, OR 1.16, 95%CI 1.08–1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The SH2B3 polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders.
PB Springer Nature
YR 2010
FD 2010
LK https://hdl.handle.net/10630/33832
UL https://hdl.handle.net/10630/33832
LA eng
NO Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez JR, Fernandez O, Cavanillas ML, Cénit MC, Arroyo R, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Izquierdo G, Lucas M, Fedetz M, Pinto-Medel MJ, Olascoaga J, Blanco Y, Comabella M, Montalban X, Urcelay E, Matesanz F. The autoimmune disease- associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes Immun. 2010 Jul;11(5):439-45.
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 19 ene 2026