메뉴 건너뛰기




Volumn 18, Issue 7, 2012, Pages 959-965

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

(23)  Varadé, Jezabel a   Comabella, Manuel b   Ortiz, Miguel A a   Arroyo, Rafael a   Fernández, Oscar c   Pinto Medel, M Jesús c   Fedetz, María d   Izquierdo, Guillermo e   Lucas, Miguel e   Gómez, Carlos López c   Rabasa, Antonio Catalá d   Alcina, Antonio d   Matesanz, Fuencisla d,e   Alloza, Iraide f   Antigüedad, Alfredo g   García Barcina, María g   Otaegui, David h   Olascoaga, Javier i   Saiz, Albert j   Blanco, Yolanda j   more..


Author keywords

CBLB; IL12B; multiple sclerosis susceptibility; TMEM39A

Indexed keywords

ADULT; ANKN1 GENE; ARTICLE; AUTOIMMUNE DISEASE; CLBL GENE; CONTROLLED STUDY; CRN1 GENE; EPHA4 GENE; GENE; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GTF2B GENE; HUMAN; IL12B GENE; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; PKN2 GENE; PTPRM GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TMEM39A GENE; YTHDF3 GENE;

EID: 84863199471     PISSN: 13524585     EISSN: 14770970     Source Type: Journal    
DOI: 10.1177/1352458511432741     Document Type: Article
Times cited : (24)

References (36)
  • 2
    • 0015930377 scopus 로고
    • Association between HL-A antigens and measles antibody in multiple sclerosis
    • Jersild C, Ammitzboll T, Clausen J and Fog T. Association between HL-A antigens and measles antibody in multiple sclerosis. Lancet. 1973; 1: 151-2.
    • (1973) Lancet , vol.1 , pp. 151-152
    • Jersild, C.1    Ammitzboll, T.2    Clausen, J.3    Fog, T.4
  • 3
    • 67649881102 scopus 로고    scopus 로고
    • Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
    • Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)
    • Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene). Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet. 2009; 41: 824-8.
    • (2009) Nat Genet , vol.41 , pp. 824-828
  • 4
    • 55849139823 scopus 로고    scopus 로고
    • Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms
    • Comabella M, Craig DW, Camina-Tato M, et al. Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms. PLoS One. 2008; 3: e3490.
    • (2008) PLoS One , vol.3
    • Comabella, M.1    Craig, D.W.2    Camina-Tato, M.3
  • 5
    • 34548299105 scopus 로고    scopus 로고
    • Risk alleles for multiple sclerosis identified by a genomewide study
    • International Multiple Sclerosis Genetics Consortium, IMSGC
    • International Multiple Sclerosis Genetics Consortium, IMSGC. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med. 2007; 357: 851-62.
    • (2007) N Engl J Med , vol.357 , pp. 851-862
  • 6
    • 76049083598 scopus 로고    scopus 로고
    • Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene
    • Jakkula E, Leppa V, Sulonen AM, et al. Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. Am J Hum Genet. 2010; 86: 285-91.
    • (2010) Am J Hum Genet , vol.86 , pp. 285-291
    • Jakkula, E.1    Leppa, V.2    Sulonen, A.M.3
  • 7
    • 77952884985 scopus 로고    scopus 로고
    • Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
    • Sanna S, Pitzalis M, Zoledziewska M, et al. Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet. 2010; 42: 495-7.
    • (2010) Nat Genet , vol.42 , pp. 495-497
    • Sanna, S.1    Pitzalis, M.2    Zoledziewska, M.3
  • 8
    • 77950544633 scopus 로고    scopus 로고
    • Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci
    • International Multiple Sclerosis Genetics Consortium, IMSGC
    • International Multiple Sclerosis Genetics Consortium, IMSGC. Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci. Hum Mol Genet. 2010; 19: 953-62.
    • (2010) Hum Mol Genet , vol.19 , pp. 953-962
  • 9
    • 79951796542 scopus 로고    scopus 로고
    • Association of the CBLB gene with multiple sclerosis: New evidence from a replication study in an Italian population
    • Corrado L, Bergamaschi L, Barizzone N, et al. Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population. J Med Genet. 2011; 48: 210-1.
    • (2011) J Med Genet , vol.48 , pp. 210-211
    • Corrado, L.1    Bergamaschi, L.2    Barizzone, N.3
  • 12
    • 78149407645 scopus 로고    scopus 로고
    • Replication of association between interleukin-23 receptor (IL-23R) and its ligand (IL-12B) polymorphisms and psoriasis in the Chinese Han population
    • Wu Y, Lu Z, Chen Y, Xue F, Chen X and Zheng J. Replication of association between interleukin-23 receptor (IL-23R) and its ligand (IL-12B) polymorphisms and psoriasis in the Chinese Han population. Hum Immunol. 2010; 71: 1255-8.
    • (2010) Hum Immunol , vol.71 , pp. 1255-1258
    • Wu, Y.1    Lu, Z.2    Chen, Y.3    Xue, F.4    Chen, X.5    Zheng, J.6
  • 14
    • 78650711124 scopus 로고    scopus 로고
    • Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease
    • Danoy P, Pryce K, Hadler J, et al. Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease. PLoS Genet. 2010; 6: e1001195.
    • (2010) PLoS Genet , vol.6
    • Danoy, P.1    Pryce, K.2    Hadler, J.3
  • 15
    • 76449096382 scopus 로고    scopus 로고
    • The cannabinoid receptor 1 gene (CNR1) and multiple sclerosis: An association study in two case-control groups from Spain
    • Ramil E, Sanchez AJ, Gonzalez-Perez P, et al. The cannabinoid receptor 1 gene (CNR1) and multiple sclerosis: an association study in two case-control groups from Spain. Mult Scler. 2010; 16: 139-46.
    • (2010) Mult Scler , vol.16 , pp. 139-146
    • Ramil, E.1    Sanchez, A.J.2    Gonzalez-Perez, P.3
  • 16
    • 0020686503 scopus 로고
    • New diagnostic criteria for multiple sclerosis: Guidelines for research protocols
    • DOI 10.1002/ana.410130302
    • Poser CM, Paty DW, Scheinberg L, et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol. 1983; 13: 227-31. (Pubitemid 13158528)
    • (1983) Annals of Neurology , vol.13 , Issue.3 , pp. 227-231
    • Poser, C.M.1    Paty, D.W.2    Scheinberg, L.3
  • 17
    • 79952282726 scopus 로고    scopus 로고
    • Replication of top markers of a genome-wide association study in multiple sclerosis in Spain
    • Cavanillas ML, Fernandez O, Comabella M, et al. Replication of top markers of a genome-wide association study in multiple sclerosis in Spain. Genes Immun. 2011; 12: 110-5.
    • (2011) Genes Immun , vol.12 , pp. 110-115
    • Cavanillas, M.L.1    Fernandez, O.2    Comabella, M.3
  • 18
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009; 461: 747-53.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 19
    • 56749098072 scopus 로고    scopus 로고
    • Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis
    • Aulchenko YS, Hoppenbrouwers IA, Ramagopalan SV, et al. Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet. 2008; 40: 1402-3.
    • (2008) Nat Genet , vol.40 , pp. 1402-1403
    • Aulchenko, Y.S.1    Hoppenbrouwers, I.A.2    Ramagopalan, S.V.3
  • 20
    • 77952804851 scopus 로고    scopus 로고
    • Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis
    • author reply 70-1
    • Booth DR, Heard RN, Stewart GJ, et al. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet. 2010; 42: 469-70; author reply 70-1.
    • (2010) Nat Genet , vol.42 , pp. 469-470
    • Booth, D.R.1    Heard, R.N.2    Stewart, G.J.3
  • 21
    • 16844369908 scopus 로고    scopus 로고
    • CBLB variants in type 1 diabetes and their genetic interaction with CTLA4
    • DOI 10.1189/jlb.0904524
    • Bergholdt R, Taxvig C, Eising S, Nerup J and Pociot F. CBLB variants in type 1 diabetes and their genetic interaction with CTLA4. J Leukoc Biol. 2005; 77: 579-85. (Pubitemid 40489534)
    • (2005) Journal of Leukocyte Biology , vol.77 , Issue.4 , pp. 579-585
    • Bergholdt, R.1    Taxvig, C.2    Eising, S.3    Nerup, J..4    Pociot, F.5
  • 23
    • 57349093812 scopus 로고    scopus 로고
    • Investigation of association of the IL12B and IL23R genes with psoriatic arthritis
    • Filer C, Ho P, Smith RL, et al. Investigation of association of the IL12B and IL23R genes with psoriatic arthritis. Arthritis Rheum. 2008; 58: 3705-9.
    • (2008) Arthritis Rheum , vol.58 , pp. 3705-3709
    • Filer, C.1    Ho, P.2    Smith, R.L.3
  • 24
    • 54349108141 scopus 로고    scopus 로고
    • IL23R and IL12B polymorphisms in Spanish IBD patients: No evidence of interaction
    • Marquez A, Mendoza JL, Taxonera C, et al. IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction. Inflamm Bowel Dis. 2008; 14: 1192-6.
    • (2008) Inflamm Bowel Dis , vol.14 , pp. 1192-1196
    • Marquez, A.1    Mendoza, J.L.2    Taxonera, C.3
  • 25
    • 79952195585 scopus 로고    scopus 로고
    • Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
    • Anderson CA, Boucher G, Lees CW, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet. 2011; 43: 246-52.
    • (2011) Nat Genet , vol.43 , pp. 246-252
    • Anderson, C.A.1    Boucher, G.2    Lees, C.W.3
  • 26
    • 70350650472 scopus 로고    scopus 로고
    • A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus
    • Gateva V, Sandling JK, Hom G, et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet. 2009; 41: 1228-33.
    • (2009) Nat Genet , vol.41 , pp. 1228-1233
    • Gateva, V.1    Sandling, J.K.2    Hom, G.3
  • 29
    • 0036791942 scopus 로고    scopus 로고
    • Interleukin-12 p40 polymorphism and susceptibility to multiple sclerosis
    • Alloza I, Heggarty S, Goris A, et al. Interleukin-12 p40 polymorphism and susceptibility to multiple sclerosis. Ann Neurol. 2002; 52: 524-5.
    • (2002) Ann Neurol , vol.52 , pp. 524-525
    • Alloza, I.1    Heggarty, S.2    Goris, A.3
  • 31
    • 79952425175 scopus 로고    scopus 로고
    • The clinical presentation of autoimmune thyroid disease in men is associated with IL12B genotype
    • Walsh JP, Berry J, Liu S, et al. The clinical presentation of autoimmune thyroid disease in men is associated with IL12B genotype. Clin Endocrinol (Oxf). 2011; 74: 508-12.
    • (2011) Clin Endocrinol (Oxf) , vol.74 , pp. 508-512
    • Walsh, J.P.1    Berry, J.2    Liu, S.3
  • 32
    • 77954886757 scopus 로고    scopus 로고
    • IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci
    • International Multiple Sclerosis Genetics Consortium, IMSGC
    • International Multiple Sclerosis Genetics Consortium, IMSGC. IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun. 2010; 11: 397-405.
    • (2010) Genes Immun , vol.11 , pp. 397-405
  • 33
    • 79953184306 scopus 로고    scopus 로고
    • The (AAT)n repeat of the cannabinoid CB1 receptor gene influences disease progression in relapsing multiple sclerosis
    • Rossi S, Buttari F, Studer V, et al. The (AAT)n repeat of the cannabinoid CB1 receptor gene influences disease progression in relapsing multiple sclerosis. Mult Scler. 2011; 17: 281-8.
    • (2011) Mult Scler , vol.17 , pp. 281-288
    • Rossi, S.1    Buttari, F.2    Studer, V.3
  • 34
    • 77949760982 scopus 로고    scopus 로고
    • The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease
    • Storr M, Emmerdinger D, Diegelmann J, et al. The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease. PLoS One. 2010; 5: e9453.
    • (2010) PLoS One , vol.5
    • Storr, M.1    Emmerdinger, D.2    Diegelmann, J.3
  • 35
    • 79958728985 scopus 로고    scopus 로고
    • Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis
    • Mkhikian H, Grigorian A, Li CF, et al. Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis. Nat Commun. 2011; 2: 334.
    • (2011) Nat Commun , vol.2 , pp. 334
    • Mkhikian, H.1    Grigorian, A.2    Li, C.F.3
  • 36
    • 80051684615 scopus 로고    scopus 로고
    • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
    • International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2. Aug 10
    • International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 10;476(7359): 214-9.
    • (2011) Nature , vol.476 , Issue.7359 , pp. 214-219


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.