A method for simple and accurate identification of the multiple sclerosis associated allele HLA-DRB1*1501 in neuroscience research laboratories

Journal of Neuroimmunology

Volumn 225, Issue 1-2, 2010, Pages 143-148

  Cisneros, E ^a   Moraru, M ^a   de Pablo, R ^a   Vilches, C ^a  

^a HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

Author keywords

DNA sequence analysis; Genetic predisposition to disease; Genetic screening; HLA DR2 antigen; Human; Multiple sclerosis; Polymerase chain reaction

Indexed keywords

HLA DR ANTIGEN; HLA DR2 ANTIGEN;

ACCURACY; ALLELE; ANALYTIC METHOD; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENE SEQUENCE; HLA SYSTEM; HUMAN; INTERMETHOD COMPARISON; LABORATORY; MAJOR CLINICAL STUDY; MEDICAL RESEARCH; MULTIPLE SCLEROSIS; NEUROSCIENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; DATABASES, GENETIC; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HISTOCOMPATIBILITY TESTING; HLA-DR ANTIGENS; HLA-DR2 ANTIGEN; HUMANS; MULTIPLE SCLEROSIS; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 77955661057     PISSN: 01655728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jneuroim.2010.03.019     Document Type: Article

References (42)

1. Barcellos L.F., Sawcer S., Ramsay P.P., Baranzini S.E., Thomson G., Briggs F., Cree B.C., Begovich A.B., Villoslada P., Montalban X., Uccelli A., Savettieri G., Lincoln R.R., DeLoa C., Haines J.L., Pericak-Vance M.A., Compston A., Hauser S.L., Oksenberg J.R. Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum. Mol. Genet. 2006, 15:2813-2824.
2. Bergamaschi L., Leone M.A., Fasano M.E., Guerini F.R., 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. 2009, 11:173-180.
3. Brynedal B., Duvefelt K., Jonasdottir G., Roos I.M., Akesson E., Palmgren J., Hillert J. HLA-A confers an HLA-DRB1 independent influence on the risk of multiple sclerosis. PLoS One 2007, 2:e664.
4. Bunce M., Welsh K.I. Rapid DNA typing for HLA-C using sequence-specific primers (PCR-SSP): identification of serological and non-serologically defined HLA-C alleles including several new alleles. Tissue Antigens 1994, 43:7-17.
5. Bunce M., O'Neill C.M., Barnardo M.C., Krausa P., Browning M.J., Morris P.J., Welsh K.I. Phototyping: comprehensive DNA typing for HLA-A, B, C, DRB1, DRB3, DRB4, DRB5 & DQB1 by PCR with 144 primer mixes utilizing sequence-specific primers (PCR-SSP). Tissue Antigens 1995, 46:355-367.
6. Caillier S.J., Briggs F., Cree B.A., Baranzini S.E., Fernandez-Vina M., Ramsay P.P., Khan O., Royal W., Hauser S.L., Barcellos L.F., Oksenberg J.R. Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis. J. Immunol. 2008, 181:5473-5480.
7. Casamitjana N., Faner R., Santamaria A., Colobran R., Ribera A., Pujol-Borrell R., Juan M., Palou E. Development of a new HLA-DRB real-time PCR typing method. Hum. Immunol. 2005, 66:85-91.
8. Chao M.J., Barnardo M.C., Lui G.Z., Lincoln M.R., Ramagopalan S.V., Herrera B.M., Dyment D.A., Sadovnick A.D., Ebers G.C. Transmission of class I/II multi-locus MHC haplotypes and multiple sclerosis susceptibility: accounting for linkage disequilibrium. Hum. Mol. Genet. 2007, 16:1951-1958.
9. Chao M.J., Barnardo M.C., Lincoln M.R., Ramagopalan S.V., Herrera B.M., Dyment D.A., Montpetit A., Sadovnick A.D., Knight J.C., Ebers G.C. HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:13069-13074.
10. DeLuca G.C., Ramagopalan S.V., Herrera B.M., Dyment D.A., Lincoln M.R., Montpetit A., Pugliatti M., Barnardo M.C., Risch N.J., Sadovnick A.D., Chao M., Sotgiu S., Hudson T.J., Ebers G.C. An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus. Proc. Natl. Acad. Sci. U. S. A. 2007, 104:20896-20901.
11. Dragon E.A. Handling reagents in the PCR laboratory. PCR Methods Appl. 1993, 3:S8-S9.
12. Dyment D.A., Herrera B.M., Cader M.Z., Willer C.J., Lincoln M.R., Sadovnick A.D., Risch N., Ebers G.C. Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance. Hum. Mol. Genet. 2005, 14:2019-2026.
13. Fogdell-Hahn A., Ligers A., Gronning M., Hillert J., Olerup O. Multiple sclerosis: a modifying influence of HLA class I genes in an HLA class II associated autoimmune disease. Tissue Antigens 2000, 55:140-148.
14. Friese M.A., Jakobsen K.B., Friis L., Etzensperger R., Craner M.J., McMahon R.M., Jensen L.T., Huygelen V., Jones E.Y., Bell J.I., Fugger L. Opposing effects of HLA class I molecules in tuning autoreactive CD8+ T cells in multiple sclerosis. Nat. Med. 2008, 14:1227-1235.
15. Gersuk V.H., Nepom G.T. A real-time PCR approach for rapid high resolution subtyping of HLA-DRB1*04. J. Immunol. Methods 2006, 317:64-70.
16. Gersuk V.H., Nepom G.T. A real-time polymerase chain reaction assay for the rapid identification of the autoimmune disease-associated allele HLA-DQB1*0602. Tissue Antigens 2009, 73:335-340.
17. Goris A., Walton A., Ban M., Dubois B., Compston A., Sawcer S. A Taqman assay for high-throughput genotyping of the multiple sclerosis-associated HLA-DRB1*1501 allele. Tissue Antigens 2008, 72:401-403.
18. Harbo H.F., Lie B.A., Sawcer S., Celius E.G., Dai K.Z., Oturai A., Hillert J., Lorentzen A.R., Laaksonen M., Myhr K.M., Ryder L.P., Fredrikson S., Nyland H., Sorensen P.S., Sandberg-Wollheim M., Andersen O., Svejgaard A., Edland A., Mellgren S.I., Compston A., Vartdal F., Spurkland A. Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis. Tissue Antigens 2004, 63:237-247.
19. Kimura A., Dong R.P., Harada H., Sasazuki T. DNA typing of HLA class II genes in B-lymphoblastoid cell lines homozygous for HLA. Tissue Antigens 1992, 40:5-12.
20. Kotsch K., Wehling J., Blasczyk R. Sequencing of HLA class II genes based on the conserved diversity of the non-coding regions: sequencing based typing of HLA-DRB genes. Tissue Antigens 1999, 53:486-497.
21. Lin L., Hungs M., Mignot E. Narcolepsy and the HLA region. J. Neuroimmunol. 2001, 117:9-20.
22. Lincoln M.R., Montpetit A., Cader M.Z., Saarela J., Dyment D.A., Tiislar M., Ferretti V., Tienari P.J., Sadovnick A.D., Peltonen L., Ebers G.C., Hudson T.J. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat. Genet. 2005, 37:1108-1112.
23. Lincoln M.R., Ramagopalan S.V., Chao M.J., Herrera B.M., Deluca G.C., Orton S.M., Dyment D.A., Sadovnick A.D., Ebers G.C. Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:7542-7547.
24. Lorentzen A.R., Karlsen T.H., Olsson M., Smestad C., Mero I.L., Woldseth B., Sun J.Y., Senitzer D., Celius E.G., Thorsby E., Spurkland A., Lie B.A., Harbo H.F. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. Ann. Neurol. 2009, 65:658-666.
25. Martell R.W., Arendse B., Jacobs M., Taljaard D., Du Toit E.D. A new HLA-DR2-related specificity (DR2LUM) in South African populations detected using polymerase chain reaction and sequence-specific oligonucleotide typing. Tissue Antigens 1991, 37:232-234.
26. Martínez-Laso J., De Juan D., Martínez-Quiles N., Gómez-Casado E., Cuadrado E., Arnaiz-Villena A. The contribution of the HLA-A, -B, -C and -DR, -DQ DNA typing to the study of the origins of Spaniards and Basques. Tissue Antigens 1995, 45:237-245.
27. Middleton D., Menchaca L., Rood H., Komerofsky R. New allele frequency database: http://www.allelefrequencies.net. Tissue Antigens 2003, 61:403-407.
28. Modin H., Olsson W., Hillert J., Masterman T. Modes of action of HLA-DR susceptibility specificities in multiple sclerosis. Am. J. Hum. Genet. 2004, 74:1321-1322.
29. Oksenberg J.R., Barcellos L.F. Multiple sclerosis genetics: leaving no stone unturned. Genes Immun. 2005, 6:375-387.
30. Oksenberg J.R., Barcellos L.F., Cree B.A., Baranzini S.E., Bugawan T.L., Khan O., Lincoln R.R., Swerdlin A., Mignot E., Lin L., Goodin D., Erlich H.A., Schmidt S., Thomson G., Reich D.E., Pericak-Vance M.A., Haines J.L., Hauser S.L. Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am. J. Hum. Genet. 2004, 74:160-167.
31. Olerup O., Zetterquist H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigens 1992, 39:225-235.
32. Ordóñez D., Sánchez A.J., Martínez-Rodríguez J.E., Cisneros E., Ramil E., Romo N., Moraru M., Munteis E., López-Botet M., Roquer J., García-Merino A., Vilches C. Multiple sclerosis associates with LILRA3 deletion in Spanish patients. Genes Immun. 2009, 10:579-585.
33. Ramagopalan S.V., Morris A.P., Dyment D.A., Herrera B.M., DeLuca G.C., Lincoln M.R., Orton S.M., Chao M.J., Sadovnick A.D., Ebers G.C. The inheritance of resistance alleles in multiple sclerosis. PLoS Genet. 2007, 3:1607-1613.
34. Ramagopalan S.V., Knight J.C., Ebers G.C. Multiple sclerosis and the major histocompatibility complex. Curr. Opin. Neurol. 2009, 22:219-225.
35. Ramagopalan S.V., Maugeri N.J., Handunnetthi L., Lincoln M.R., Orton S.M., Dyment D.A., Deluca G.C., Herrera B.M., Chao M.J., Sadovnick A.D., Ebers G.C., Knight J.C. Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*z.ast;1501 is regulated by vitamin D. PLoS Genet. 2009, 5:e1000369.
36. Robinson J., Waller M.J., Fail S.C., McWilliam H., Lopez R., Parham P., Marsh S.G. The IMGT/HLA database. Nucleic Acids Res. 2009, 37:D1013-D1017.
37. Santamaria P., Lindstrom A.L., Boyce-Jacino M.T., Myster S.H., Barbosa J.J., Faras A.J., Rich S.S. HLA class I sequence-based typing. Hum. Immunol. 1993, 37:39-50.
38. Stankovich J., Butzkueven H., Marriott M., Chapman C., Tubridy N., Tait B.D., Varney M.D., Taylor B.V., Foote S.J., Kilpatrick T.J., Rubio J.P. HLA-DRB1 associations with disease susceptibility and clinical course in Australians with multiple sclerosis. Tissue Antigens 2009, 74:17-21.
39. Svejgaard A. The immunogenetics of multiple sclerosis. Immunogenetics 2008, 60:275-286.
40. Tremmel M., Opelz G., Mytilineos J. High-resolution typing for HLA-DRB1*15 amd -DRB1*16 by fluorescence-marked sequence-specific priming (TaqMan assay). Tissue Antigens 1999, 54:508-516.
41. Yang S.Y., Milford E., Hämmerling U., Dupont B. Description of the reference panel of B-lymphoblastoid cell lines for factors of the HLA system: the B-cell line panel designed for the Tenth International Histocompatibility Workshop. Immunobiology of HLA 1989, 11-18. Springer-Verlag, New York. B. Dupont (Ed.).
42. Yeo T.W., De Jager P.L., Gregory S.G., Barcellos L.F., Walton A., Goris A., Fenoglio C., Ban M., Taylor C.J., Goodman R.S., Walsh E., Wolfish C.S., Horton R., Traherne J., Beck S., Trowsdale J., Caillier S.J., Ivinson A.J., Green T., Pobywajlo S., et al. A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann. Neurol. 2007, 61:228-236.