Class II HLA interactions modulate genetic risk for multiple sclerosis

Nature Genetics

Volumn 47, Issue 10, 2015, Pages 1107-1113

  Moutsianas, Loukas ^a   Jostins, Luke ^a   Beecham, Ashley H ^b   Dilthey, Alexander T ^a   Xifara, Dionysia K ^a   Ban, Maria ^c   Shah, Tejas S ^d   Patsopoulos, Nikolaos A ^e,f,g   Alfredsson, Lars ^h   Anderson, Carl A ^d   Attfield, Katherine E ⁱ   Baranzini, Sergio E ^j   Barrett, Jeffrey ^d   Binder, Thomas M C ^k   Booth, David ^l   Buck, Dorothea ^m   Celius, Elisabeth G ⁿ   Cotsapas, Chris ^g,o   D'Alfonso, Sandra ^p   Dendrou, Calliope A ^q   Donnelly, Peter ^a   Dubois, Bénédicte ^r   Fontaine, Bertrand ^s   Fugger, Lars ^i,q   Goris, An ^r   Gourraud, Pierr Antoine ^j   Graetz, Christiane ^t   Hemmer, Bernhard ^m,u,v   Hillert, Jan ^h   Kockum, Ingrid ^h   Leslie, Stephen ^w,x   Lill, Christina M ^t,y   Martinelli Boneschi, Filippo ^z,aa   Oksenberg, Jorge R ^j   Olsson, Tomas ^h   Oturai, Annette ^ab   Saarela, Janna ^ac   SØndergaard, Helle Bach ^ab   Spurkland, Anne ^ad   Taylor, Bruce ^ae   Winkelmann, Juliane ^m,u,af,ag,ah   Zipp, Frauke ^t   L Haines, Jonathan ^ai   Pericak Vance, Margaret A ^b   Spencer, Chris C A ^a   Stewart, Graeme ^l   Hafler, David A ^g,o   Ivinson, Adrian J ^aj   Harbo, Hanne F ^n,ad   Hauser, Stephen L ^j   De Jager, Philip L ^e,f,g   Compston, Alastair ^c   McCauley, Jacob L ^b   Sawcer, Stephen ^c   McVean, Gil ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^h KAROLINSKA INSTITUTE   (Sweden)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^l UNIVERSITY OF SYDNEY   (Australia)

^m TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁿ ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^o YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^q UNIVERSITY OF OXFORD   (United Kingdom)

^r UNIVERSITY OF LEUVEN   (Belgium)

^s SORBONNE UNIVERSITÉ   (France)

^t UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^u Germany 3 Munich Cluster for Systems Neurology   (Germany)

^v German Competence Network Multiple Sclerosis (KKNMS)   (Germany)

^w ROYAL CHILDREN'S HOSPITAL   (Australia)

^x UNIVERSITY OF MELBOURNE   (Australia)

^y UNIVERSITY OF LÜBECK   (Germany)

^z Institute of Experimental Neurology INSPE   (Italy)

^aa SAN RAFFAELE HOSPITAL   (Italy)

^ab Mental Health Services CPH   (Denmark)

^ac UNIVERSITY OF HELSINKI   (Finland)

^ad UNIVERSITY OF OSLO   (Norway)

^ae UNIVERSITY OF TASMANIA   (Australia)

^af TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ag INSTITUTE OF EPIDEMIOLOGY   (Germany)

^ah STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ai VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^aj The Harvard Center for Neurodegeneration & Repair   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HLA A ANTIGEN; HLA ANTIGEN CLASS 2; HLA B ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN;

ALLELE; ARTICLE; CASE CONTROL STUDY; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; EPISTASIS; GENETIC RISK; HLA SYSTEM; HUMAN; MAJOR CLINICAL STUDY; MULTIFACTORIAL INHERITANCE; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY;

ALLELES; EPISTASIS, GENETIC; GENETIC PREDISPOSITION TO DISEASE; HISTOCOMPATIBILITY ANTIGENS CLASS II; HUMANS; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84942981489     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3395     Document Type: Article

References (36)

1. Jersild C., Svejgaard A., & Fog T. HL-A antigens and multiple sclerosis. Lancet 1, 1240-1241 (1972
2. Ligers A., et al. Evidence of linkage with HLA-DR in DRB1∗15-negative families with multiple sclerosis. Am. J. Hum. Genet. 69, 900-903 (2001
3. International Multiple Sclerosis Genetics Consortium. A high-density screen for linkage in multiple sclerosis. Am. J. Hum. Genet. 77, 454-467 (2005
4. Kwon O.J., et al. HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews. Arch. Neurol. 56, 555-560 (1999
5. International Multiple Sclerosis Genetics Consortium. Risk alleles for multiple sclerosis identified by a genomewide study. N. Engl. J. Med. 357, 851-862 (2007
6. Baranzini S.E., et al. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum. Mol. Genet. 18, 767-778 (2009
7. De Jager P.L., et al. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat. Genet. 41, 776-782 (2009
8. 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. 41, 824-828 (2009
9. 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 476, 214-219 (2011
10. Patsopoulos N.A., et al. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann. Neurol. 70, 897-912 (2011
11. International Multiple Sclerosis Genetics Consortium. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat. Genet. 45, 1353-1360 (2013
12. Leslie S., Donnelly P., & McVean G. A statistical method for predicting classical HLA alleles from SNP data. Am. J. Hum. Genet. 82, 48-56 (2008
13. Dilthey A., et al. Multi-population classical HLA type imputation. PLOS Comput. Biol. 9, e1002877 (2013
14. Patsopoulos N.A., et al. Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects. PLoS Genet. 9, e1003926 (2013
15. Marrosu M.G., et al. Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia. Hum. Mol. Genet. 10, 2907-2916 (2001
16. Sanna S., et al. Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat. Genet. 42, 495-497 (2010
17. Barcellos L.F., et al. Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum. Mol. Genet. 15, 2813-2824 (2006
18. Dyment D.A., et al. Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance. Hum. Mol. Genet. 14, 2019-2026 (2005
19. Marrosu M.G., et al. Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population. J. Neurol. 253, 208-213 (2006
20. Lincoln M.R., et al. Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility. Proc. Natl. Acad. Sci. USA 106, 7542-7547 (2009
21. Hedström A.K., et al. Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis. Brain 134, 653-664 (2011
22. Gregersen J.W., et al. Functional epistasis on a common MHC haplotype associated with multiple sclerosis. Nature 443, 574-577 (2006
23. Evans D.M., et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat. Genet. 43, 761-767 (2011
24. Strange A., et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat. Genet. 42, 985-990 (2010
25. Kirino Y., et al. Genome-wide association analysis identifies new susceptibility loci for Behcets disease and epistasis between HLA-B∗51 and ERAP1. Nat. Genet. 45, 202-207 (2013
26. Dilthey A.T., Moutsianas L., Leslie S., & McVean G. HLA∗IMP-an integrated framework for imputing classical HLA alleles from SNP genotypes. Bioinformatics 27, 968-972 (2011
27. Field J., et al. A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. PLoS ONE 5, e13454 (2010
28. Yang J., Lee S.H., Goddard M.E., & Visscher P.M. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76-82 (2011
29. Mathieson I., & McVean G. Differential confounding of rare and common variants in spatially structured populations. Nat. Genet. 44, 243-246 (2012
30. Masterman T., et al. HLA-DR15 is associated with lower age at onset in multiple sclerosis. Ann. Neurol. 48, 211-219 (2000
31. Goyette P., et al. High-density mapping of the MHC identifies a shared role for HLA-DRB1∗01: 03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. Nat. Genet. 47, 172-179 (2015
32. Lang H.L., et al. A functional and structural basis for TCR cross-reactivity in multiple sclerosis. Nat. Immunol. 3, 940-943 (2002
33. Manolio T.A., et al. Finding the missing heritability of complex diseases. Nature 461, 747-753 (2009
34. de Bakker P.I., et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat. Genet. 38, 1166-1172 (2006
35. Schwarz G.E. Estimating the dimension of a model. Ann. Stat. 6, 461-464 (1978
36. Roxburgh R.H., et al. Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity. Neurology 64, 1144-1151 (2005