CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population

BMC Neurology

Volumn 14, Issue 1, 2014, Pages

  Kim, Jason Y ^a   Bae, Joon S ^b   Kim, Ho J ^c   Shin, Hyoung D ^a,d  

^a Sogang University   (South Korea)

^b Samsung Medical Center   (South Korea)

^c National Cancer Center   (South Korea)

^d SNP Genetics Inc   (South Korea)

Author keywords

CD58; Haplotype; NMO; SNP

Indexed keywords

LYMPHOCYTE FUNCTION ASSOCIATED ANTIGEN 3;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYELOOPTIC NEUROPATHY; POPULATION RESEARCH; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; ANTIGENS, CD58; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; NEUROMYELITIS OPTICA; POLYMORPHISM, SINGLE NUCLEOTIDE; POPULATION SURVEILLANCE; REPUBLIC OF KOREA; RISK FACTORS; YOUNG ADULT;

EID: 84898911347     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-14-57     Document Type: Article

References (33)

1. Weinshenker BG, Wingerchuk DM, Nakashima I, Fujihara K, Lennon VA. OSMS is NMO, but not MS: proven clinically and pathologically. Lancet Neurol 2006, 5(2):110-111. 10.1016/S1474-4422(06)70333-7, 16426985.
2. Wingerchuk DM, Hogancamp WF, O'Brien PC, Weinshenker BG. The clinical course of neuromyelitis optica (Devic's syndrome). Neurology 1999, 53(5):1107-1114. 10.1212/WNL.53.5.1107, 10496275.
3. Argyriou AA, Makris N. Neuromyelitis optica: a distinct demyelinating disease of the central nervous system. Acta Neurol Scand 2008, 118(4):209-217. 10.1111/j.1600-0404.2008.01002.x, 18336627.
4. Kim NH, Kim HJ, Cheong HK, Kim BJ, Lee KH, Kim EH, Kim EA, Kim S, Park MS, Yoon WT. Prevalence of multiple sclerosis in Korea. Neurology 2010, 75(16):1432-1438. 10.1212/WNL.0b013e3181f88191, 20956788.
5. Rosati G. The prevalence of multiple sclerosis in the world: an update. Neurol Sci 2001, 22(2):117-139. 10.1007/s100720170011, 11603614.
6. Jacob A, Matiello M, Wingerchuk DM, Lucchinetti CF, Pittock SJ, Weinshenker BG. Neuromyelitis optica: changing concepts. J Neuroimmunol 2007, 187(1-2):126-138.
7. Kim HJ, Park HY, Kim E, Lee KS, Kim KK, Choi BO, Kim SM, Bae JS, Lee SO, Chun JY, Park TJ, Cheong HS, Jo I, Shin HD. Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica. Neurobiol Dis 2010, 37(2):349-355. 10.1016/j.nbd.2009.10.013, 19850125.
8. Park TJ, Kim HJ, Kim JH, Bae JS, Cheong HS, Park BL, Shin HD. Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases. Neuropathol Appl Neurobiol 2013, 39(5):519-530. 10.1111/j.1365-2990.2012.01304.x, 22994200.
9. Barbosa JA, Mentzer SJ, Kamarck ME, Hart J, Biro PA, Strominger JL, Burakoff SJ. Gene mapping and somatic cell hybrid analysis of the role of human lymphocyte function-associated antigen-3 (LFA-3) in CTL-target cell interactions. J Immunol 1986, 136(8):3085-3091.
10. Wang JH, Smolyar A, Tan K, Liu JH, Kim M, Sun ZY, Wagner G, Reinherz EL. Structure of a heterophilic adhesion complex between the human CD2 and CD58 (LFA-3) counterreceptors. Cell 1999, 97(6):791-803. 10.1016/S0092-8674(00)80790-4, 10380930.
11. Seboun E, Robinson MA, Doolittle TH, Ciulla TA, Kindt TJ, Hauser SL. A susceptibility locus for multiple sclerosis is linked to the T cell receptor beta chain complex. Cell 1989, 57(7):1095-1100. 10.1016/0092-8674(89)90046-9, 2567636.
12. Hockertz MK, Paty DW, Beall SS. Susceptibility to relapsing-progressive multiple sclerosis is associated with inheritance of genes linked to the variable region of the TcR beta locus: use of affected family-based controls. Am J Hum Genet 1998, 62(2):373-385. 10.1086/301700, 1376877, 9463308.
13. Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B, Oksenberg JR, Hauser SL. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007, 357(9):851-862.
14. Hoppenbrouwers IA, Aulchenko YS, Janssens AC, Ramagopalan SV, Broer L, Kayser M, Ebers GC, Oostra BA, van Duijn CM, Hintzen RQ. Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis. J Hum Genet 2009, 54(11):676-680. 10.1038/jhg.2009.96, 19834503.
15. Coustet B, Agarwal SK, Gourh P, Guedj M, Mayes MD, Dieude P, Wipff J, Avouac J, Hachulla E, Diot E, Cracowski JL, Tiev K, Sibilia J, Mouthon L, Frances C, Amoura Z, Carpentier P, Meyer O, Kahan A, Boileau C, Arnett FC, Allanore Y. Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts. J Rheumatol 2011, 38(6):1033-1038. 10.3899/jrheum.101053, 3404507, 21362770.
16. Rubio JP, Stankovich J, Field J, Tubridy N, Marriott M, Chapman C, Bahlo M, Perera D, Johnson LJ, Tait BD, Varney MD, Speed TP, Taylor BV, Foote SJ, Butzkueven H, Kilpatrick TJ. Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians. Genes Immun 2008, 9(7):624-630. 10.1038/gene.2008.59, 18650830.
17. De Jager PL, Baecher-Allan C, Maier LM, Arthur AT, Ottoboni L, Barcellos L, McCauley JL, Sawcer S, Goris A, Saarela J, Yelensky R, Price A, Leppa V, Patterson N, de Bakker PI, Tran D, Aubin C, Pobywajlo S, Rossin E, Hu X, Ashley CW, Choy E, Rioux JD, Pericak-Vance MA, Ivinson A, Booth DR, Stewart GJ, Palotie A, Peltonen L, Dubois B, et al. The role of the CD58 locus in multiple sclerosis. Proc Natl Acad Sci U S A 2009, 106(13):5264-5269. 10.1073/pnas.0813310106, 2664005, 19237575.
18. Bahlo M, Booth DR, Broadley SA, Brown MA, Foote SJ, Griffiths LR, Kilpatrick TJ, Lechner-Scott J, Moscato P, Perreau VM, Rubio JP, Scott RJ, Stankovich J, Stewart GJ, Taylor BV, Wiley J, Clarke G, Cox MB, Csurhes PA, Danoy P, Drysdale K, Field J, Greer JM, Guru P, Hadler J, McMorran BJ, Jensen CJ, Johnson LJ, McCallum R, Merriman M, et al. Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet 2009, 41(7):824-828. 10.1038/ng.396, 19525955.
19. Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinshenker BG. Revised diagnostic criteria for neuromyelitis optica. Neurology 2006, 66(10):1485-1489. 10.1212/01.wnl.0000216139.44259.74, 16717206.
20. Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ, Weinshenker BG. The spectrum of neuromyelitis optica. Lancet Neurol 2007, 6(9):805-815. 10.1016/S1474-4422(07)70216-8, 17706564.
21. Kim W, Lee JE, Li XF, Kim SH, Han BG, Lee BI, Kim JK, Choi K, Kim HJ. Quantitative measurement of anti-aquaporin-4 antibodies by enzyme-linked immunosorbent assay using purified recombinant human aquaporin-4. Mult Scler 2012, 18(5):578-586. 10.1177/1352458511424590, 21965418.
22. Jarius S, Probst C, Borowski K, Franciotta D, Wildemann B, Stoecker W, Wandinger KP. Standardized method for the detection of antibodies to aquaporin-4 based on a highly sensitive immunofluorescence assay employing recombinant target antigen. J Neurol Sci 2010, 291(1-2):52-56.
23. Kim SH, Kim W, Li XF, Jung IJ, Kim HJ. Clinical spectrum of CNS aquaporin-4 autoimmunity. Neurology 2012, 78(15):1179-1185. 10.1212/WNL.0b013e31824f8069, 22459676.
24. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21(2):263-265. 10.1093/bioinformatics/bth457, 15297300.
25. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001, 68(4):978-989. 10.1086/319501, 1275651, 11254454.
26. Conde L, Vaquerizas JM, Dopazo H, Arbiza L, Reumers J, Rousseau F, Schymkowitz J, Dopazo J. PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res 2006, 34(Web Server issue):W621-W625. 1538854, 16845085.
27. Pittock SJ, Weinshenker BG, Lucchinetti CF, Wingerchuk DM, Corboy JR, Lennon VA. Neuromyelitis optica brain lesions localized at sites of high aquaporin 4 expression. Arch Neurol 2006, 63(7):964-968. 10.1001/archneur.63.7.964, 16831965.
28. Brynedal B, Bomfim IL, Olsson T, Duvefelt K, Hillert J. Differential expression, and genetic association, of CD58 in Swedish multiple sclerosis patients. Proc Natl Acad Sci U S A 2009, 106(23):E58. author reply E59, 10.1073/pnas.0904338106, 2695099, 19497873.
29. Qiu W, Pham K, James I, Nolan D, Castley A, Christiansen FT, Czarniak P, Luo Y, Wu J, Garlepp M, Wilton S, Carroll WM, Mastaglia FL, Kermode AG. The influence of non-HLA gene polymorphisms and interactions on disease risk in a Western Australian multiple sclerosis cohort. J Neuroimmunol 2013, 261(1-2):92-97.
30. Misu T, Fujihara K. [Pathogenesis of neuromyelitis optica]. Nihon Rinsho 2013, 71(5):823-828.
31. Hennig BJ, Fielding K, Broxholme J, Diatta M, Mendy M, Moore C, Pollard AJ, Rayco-Solon P, Sirugo G, van der Sande MA, Waight P, Whittle HC, Zaman SM, Hill AV, Hall AJ. Host genetic factors and vaccine-induced immunity to hepatitis B virus infection. PLoS One 2008, 3(3):e1898. 10.1371/journal.pone.0001898, 2268746, 18365030.
32. Ryckman KK, Fielding K, Hill AV, Mendy M, Rayco-Solon P, Sirugo G, van der Sande MA, Waight P, Whittle HC, Hall AJ, Williams SM, Hennig BJ. Host genetic factors and vaccine-induced immunity to HBV infection: haplotype analysis. PLoS One 2010, 5(8):e12273. 10.1371/journal.pone.0012273, 2923624, 20806065.
33. Wingerchuk DM. Neuromyelitis optica. Int MS J 2006, 13(2):42-50.