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Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes.
- Source :
-
Multiple sclerosis (Houndmills, Basingstoke, England) [Mult Scler] 2012 Jul; Vol. 18 (7), pp. 959-65. Date of Electronic Publication: 2011 Dec 22. - Publication Year :
- 2012
-
Abstract
- Background and Objectives: Ten genes previously showing different evidence of association with multiple sclerosis have been selected to validate.<br />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.<br />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).<br />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)].
- Subjects :
- Adult
Female
Genome-Wide Association Study
Genotype
Humans
Male
Polymorphism, Single Nucleotide
Adaptor Proteins, Signal Transducing genetics
Genetic Predisposition to Disease genetics
Interleukin-12 Subunit p40 genetics
Membrane Proteins genetics
Multiple Sclerosis genetics
Proto-Oncogene Proteins c-cbl genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1477-0970
- Volume :
- 18
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Multiple sclerosis (Houndmills, Basingstoke, England)
- Publication Type :
- Academic Journal
- Accession number :
- 22194214
- Full Text :
- https://doi.org/10.1177/1352458511432741