Details

Autor(en) / Beteiligte

• Varadé, Jezabel
• Comabella, Manuel
• Ortiz, Miguel A
• Arroyo, Rafael
• Fernández, Oscar
• Pinto-Medel, M Jesús
• Fedetz, María
• Izquierdo, Guillermo
• Lucas, Miguel
• Gómez, Carlos López
• Rabasa, Antonio Catalá
• Alcina, Antonio
• Matesanz, Fuencisla
• Alloza, Iraide
• Antigüedad, Alfredo
• García-Barcina, María
• Otaegui, David
• Olascoaga, Javier
• Saiz, Albert
• Blanco, Yolanda
• Montalbán, Xavier
• Vandenbroeck, Koen
• Urcelay, Elena

Titel

Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes

Ist Teil von

• Multiple sclerosis, 2012-07, Vol.18 (7), p.959-965

Ort / Verlag

England

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

• Ten genes previously showing different evidence of association with multiple sclerosis have been selected to validate. Eleven polymorphisms were genotyped with the iPLEX™ Sequenom in a well-powered collection of Spanish origin including 2863 multiple sclerosis cases and 2930 controls. 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). 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)].