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Title

Replication study of 10 genes showing evidence for association with multiple sclerosis: Validation of TMEM39A, IL12B and CLBL genes

AuthorsVaradé, J.; Comabella, M.; Ortiz, Miguel A.; Arroyo, R.; Fernández, Óscar; Pinto-Medel, María Jesús; Fedetz, María; Izquierdo, Guillermo; Lucas, Miguel; Gómez, C. L.; Rabasa, A. C.; Alcina, Antonio; Matesanz, F.; Alloza, I.; Antigüedad, A.; García-Barcina, M.; Otaegui, David; Olascoaga, J.; Sáiz, Albert; Blanco, Yolanda; Montalbán, X.; Vandenbroeck, Koen; Urcelay, Elena
Issue Date2012
PublisherSage Publications
CitationMultiple Sclerosis 18: 959- 965 (2012)
AbstractBackground and objectives: Ten genes previously showing different evidence of association with multiple sclerosis have been selected to validate. Methods: Eleven polymorphisms were genotyped with the iPLEX™ Sequenom in a well-powered collection of Spanish origin including 2863 multiple sclerosis cases and 2930 controls. Results: Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs1517440), YTHDF3 (rs12115114), ANKFN1 (rs17758761) and PTPRM (rs4798571), which did not reach the threshold of significance in a follow-up of the first genome-wide association study (GWAS) conducted in multiple sclerosis; TMEM39A (rs1132200), which appeared as a newly identified susceptibility gene in the same study; a gene previously reaching GWAS significance in Italy, CBLB (rs9657904); IL12B (rs6887695, rs10045431), a susceptibility gene shared by diverse autoimmune diseases and, finally, another gene showing inconclusive association with multiple sclerosis, CNR1 (rs1049353). Conclusions: Pooled analysis corroborated the effect on MS predisposition of three genes: TMEM39A [rs1132200: p M-H=0.001; OR M-H (95% CI)= 0.84 (0.75-0.93)], IL12B [rs6887695: p M-H=0.03; OR M-H (95% CI)= 1.09 (1.01-1.17)] and CBLB [rs9657904: p M-H=0.01; OR M-H (95% CI)= 0.89 (0.81-0.97)]. © The Author(s) 2012.
URIhttp://hdl.handle.net/10261/79271
DOI10.1177/1352458511432741
Identifiersdoi: 10.1177/1352458511432741
issn: 1352-4585
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