Association of HLA class I markers with multiple sclerosis in the Italian and UK population: Evidence of two independent protective effects

Journal of Medical Genetics

Volumn 48, Issue 7, 2011, Pages 485-492

  Bergamaschi, Laura ^a   Ban, Maria ^b   Barizzone, Nadia ^a   Leone, Maurizio ^c   Ferrante, Daniela ^a   Fasano, Maria Edvige ^d   Guerini, Franca R ^e   Corrado, Lucia ^a   Naldi, Paola ^c   Dametto, Ennia ^d   Agliardi, Cristina ^e   Salvetti, Marco ^f   Mechelli, Rosella ^f   Galimberti, Daniela ^g   Scarpini, Elio ^g   Cavalla, Paola ^h   Bargiggia, Valeria ⁱ   Caputo, Domenico ^e   Cordera, Susanna ^j   Monaco, Francesco ^a,c   Momigliano Richiardi, Patricia ^a   D'Alfonso, Sandra ^a   more..

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c University Hospital Maggiore della Carita   (Italy)

^d AOUS Giovanni Battista di Torino   (Italy)

^e IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^j Umberto Parini Hospital   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENETIC LINKAGE; HAPLOTYPE; HLA SYSTEM; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN INTERACTION; UNITED KINGDOM;

ADULT; ALLELES; CASE-CONTROL STUDIES; FEMALE; GENE EXPRESSION REGULATION; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HAPLOTYPES; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA-DR ANTIGENS; HUMANS; ITALY; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS; YOUNG ADULT;

EID: 79960321603     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.080721     Document Type: Article

References (24)

1. Ballerini C, Guerini FR, Rombola G, Rosati E, Massacesi L, Ferrante P, Caputo D, Talamanca LF, Naldi P, Liguori M, Alizadeh M, Momigliano-Richiardi P, D'Alfonso S. HLA-multiple sclerosis association in continental Italy and correlation with disease prevalence in Europe. J Neuroimmunol 2004;150:178-85.
2. Fogdell A, Hillert J, Sachs C, Olerup O. The multiple sclerosis- and narcolepsyassociated HLA class II haplotype includes the DRB5*0101 allele. Tissue ntigens 1995;46:333-6.
3. Olerup O. Hillert J, HLA class II-associated genetic susceptibility in multiple sclerosis: a critical evaluation. Tissue Antigens 1991;38:1-15.
4. Barcellos LF, Sawcer S, Ramsay PP, Baranzini SE, Thomson G, Briggs F, Cree BC, Begovich AB, Villoslada P, Montalban X, Uccelli A, Savettieri G, Lincoln RR, DeLoa C, Haines JL, Pericak-Vance MA, Compston A, Hauser SL, Oksenberg JR. Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet 2006;15:2813-24.
5. International Multiple Sclerosis Genetics Consortium (IMSGC). A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann Neurol 2007;61:228-36.
6. Brynedal B, Duvefelt K, Jonasdottir G, Roos IM, Akesson E, Palmgren J, Hillert J. HLA-A confers an HLA-DRB1 independent influence on the risk of ultiple sclerosis. PLoS One 2007;2:e664.
7. Burfoot RK, Jensen CJ, Field J, Stankovich J, Varney MD, Johnson LJ, Butzkueven H, Booth D, Bahlo M, Tait BD, Taylor BV, Speed TP, Heard R, Stewart GJ, Foote SJ, Kilpatrick TJ, Rubio JP. SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians. Tissue Antigens 2008;71:42-50.
8. Bergamaschi L, Leone MA, Fasano ME, Guerini FR, Ferrante D, Bolognesi E, Barizzone N, Corrado L, Naldi P, Agliardi C, Dametto E, Salvetti M, Visconti A, Galimberti D, Scarpini E, Vercellino M, Bergamaschi R, Monaco F, Caputo D, Momigliano-Richiardi P, D'Alfonso S. HLA-class I markers and multiple sclerosis susceptibility in the Italian population. Genes Immun 2010;11:173-80.
9. Cattley SK, Williamson JF, Tay GK, Martinez OP, Gaudieri S, Dawkins RL. Further characterization of MHC haplotypes demonstrates conservation telomeric of HLA-A: update of the 4AOH and 10IHW cell panels. Eur J Immunogenet 2000;27:397-426.
10. Alper CA, Larsen CE, Dubey DP, Awdeh ZL, Fici DA, Yunis EJ. The haplotype structure of the human major histocompatibility complex. Hum Immunol 006;67:73-84.
11. Dorak MT, Shao W, Machulla HK, Lobashevsky ES, Tang J, Park MH, Kaslow RA. Conserved extended haplotypes of the major histocompatibility complex: further characterization. Genes Immun 2006;7:450-67.
12. Rioux JD, Goyette P, Vyse TJ, Hammarström L, Fernando MM, Green T, De Jager PL, Foisy S, Wang J, de Bakker PI, Leslie S, McVean G, Padyukov L, Alfredsson L, Annese V, Hafler DA, Pan-Hammarström Q, Matell R, Sawcer SJ, Compston AD, Cree BA, Mirel DB, Daly MJ, Behrens TW, Klareskog L, Gregersen PK, Oksenberg JR, Hauser SL. International MHC and Autoimmunity Genetics Network. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc Natl Acad Sci U S A 2009;106:18680-5.
13. De Jager PL, Jia X, Wang J, de Bakker PI, Ottoboni L, Aggarwal NT, Piccio L, Raychaudhuri S, Tran D, Aubin C, Briskin R, Romano S, Baranzini SE, McCauley JL, Pericak-Vance MA, Haines JL, Gibson RA, Naeglin Y, Uitdehaag B, Matthews PM, Kappos L, Polman C, McArdle WL, Strachan DP, Evans D, Cross AH, Daly MJ, Compston A, Sawcer SJ, Weiner HL, Hauser SL, Hafler DA, Oksenberg JR. International MS Genetics Consortium. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet 2009;41:776-82.
14. Healy BC, Liguori M, Tran D, Chitnis T, Glanz B, Wolfish C, Gauthier S, Buckle G, Houtchens M, Stazzone L, Khoury S, Hartzmann R, Fernandez-Vina M, Hafler DA, Weiner HL, Guttmann CR, De Jager PL. HLA B*44: protective effects in MS susceptibility and MRI outcome measures. Neurology 010;75:634-40.
15. McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD, McFarland HF, Paty DW, Polman CH, Reingold SC, Sandberg-Wollheim M, Sibley W, Thompson A, van den Noort S, Weinshenker BY, Wolinsky JS. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001;50:121-7.
16. Tonks S, Marsh SGE, Bunce M, Moses JH, Krausa P, Sadler AM, Petronzelli F, Bodmer JG. "HLA class I DNA typing study". In: Charron D, ed. Genetic Diversity of HLA: Functional and Medical Implications. EDK: Sevres, France 1997;1:199-215.
17. Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 2008;66:87-98.
18. Mattiuz PL, Ihde D, Piazza A, Ceppellini R, Bodmer WD. New approaches to the population genetics and segregation analysis of the HLA system. In: Terasaki P, ed. Histocompatibility Testing. Munksgaard: Copenhagen, 1970:193-205.
19. Lincoln MR, Ramagopalan SV, Chao MJ, Herrera BM, Deluca GC, Orton SM, Dyment DA, Sadovnick AD, Ebers GC. Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility. Proc Natl Acad Sci U S A 2009;106:7542-7.
20. Moretta L, Moretta A. Killer immunoglobulin-like receptors. Curr Opin Immunol 2004;16:626-33.
21. Thananchai H, Gillespie G, Martin MP, Bashirova A, Yawata N, Yawata M, Easterbrook P, McVicar DW, Maenaka K, Parham P, Carrington M, Dong T, Rowland-Jones S. Cutting Edge: Allele-specific and peptide-dependent interactions between KIR3DL1 and HLA-A and HLA-B. J Immunol 2007;178:33.
22. She JX. Susceptibility to type I diabetes: HLA-DQ and DR revisited. Immunol Today 1996;17:323-9.
23. Carrington M, Nelson GW, Martin MP, Kissner T, Vlahov D, Goedert JJ, Kaslow R, Buchbinder S, Hoots K, O'Brien SJ. HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage. Science 1999;283:1748-52.
24. Friese MA, Jakobsen KB, Friis L, Etzensperger R, Craner MJ, McMahon RM, Jensen LT, Huygelen V, Jones EY, Bell JI, Fugger L. Opposing effects of HLA class I molecules in tuning autoreactive CD8+ T cells in multiple sclerosis. Nat Med 2008;14:1227-35.