Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes.
Mult Scler
; 18(7): 959-65, 2012 Jul.
Article
em En
| MEDLINE
| ID: mdl-22194214
ABSTRACT
BACKGROUND 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)].
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
/
Proteínas Adaptadoras de Transdução de Sinal
/
Proteínas Proto-Oncogênicas c-cbl
/
Subunidade p40 da Interleucina-12
/
Proteínas de Membrana
/
Esclerose Múltipla
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article