Contribution of functional KIR3DL1 to ankylosing spondylitis

Cellular and Molecular Immunology

Volumn 7, Issue 6, 2010, Pages 471-476

  Zvyagin, Ivan V ^a   Mamedov, Ilgar Z ^a   Britanova, Olga V ^a   Staroverov, Dmitriy B ^a   Nasonov, Evgeni L ^b   Bochkova, Anna G ^b   Chkalina, Anna V ^a   Kotlobay, Alexei A ^a   Korostin, Dmitriy O ^c,d   Rebrikov, Denis V ^c,d   Lukyanov, Sergey ^a   Lebedev, Yuri B ^a   Chudakov, Dmitriy M ^a  

^a SHEMYAKIN OVCHINNIKOV INSTITUTE OF BIOORGANIC CHEMISTRY   (Russian Federation)

^b V A NASONOVA RESEARCH INSTITUTE OF RHEUMATOLOGY   (Russian Federation)

^c DNA Technology JSC   (Russian Federation)

^d VAVILOV INSTITUTE OF GENERAL GENETICS   (Russian Federation)

Author keywords

ankylosing spondylitis; autoimmune disease; HLA B27; KIR; KIR3DL1; KIR3DL1*004; KIR3DS1; NK cell; T cell

Indexed keywords

HLA B27 ANTIGEN; KILLER CELL IMMUNOGLOBULIN LIKE RECEPTOR 3DL1; KILLER CELL IMMUNOGLOBULIN LIKE RECEPTOR 3DS1;

ADULT; ANKYLOSING SPONDYLITIS; ARTICLE; CONTROLLED STUDY; GENE ACTIVATION; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; NATURAL KILLER T CELL; POLYMERASE CHAIN REACTION; PRUSSIA; RUSSIAN FEDERATION; T LYMPHOCYTE ACTIVATION;

ADULT; ALLELES; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; HETEROZYGOTE; HUMANS; MIDDLE AGED; RECEPTORS, KIR3DL1; RECEPTORS, KIR3DS1; RUSSIA; SPAIN; SPONDYLITIS, ANKYLOSING;

EID: 78049488576     PISSN: 16727681     EISSN: None     Source Type: Journal    
DOI: 10.1038/cmi.2010.42     Document Type: Article

References (56)

1. Caffrey M, Brewerton DA, Hart FD, James DC. Human lymphocyte antigens as a possible diagnostic aid in ankylosing spondylitis. J Clin Pathol 1973;26:387.
2. Brewerton DA, Hart FD, Nicholls A, Caffrey M, James DC, Sturrock RD. Ankylosing spondylitis and HL-A 27. Lancet 1973;1:904-907.
3. Schlosstein L, Terasaki PI, Bluestone R, Pearson CM. High association of an HL-A antigen, W27, with ankylosing spondylitis. N Engl J Med 1973;288:704-706.
4. Smith JA, Marker-Hermann E, Colbert RA. Pathogenesis of ankylosing spondylitis: current concepts. Best Pract Res Clin Rheumatol 2006;20:571-591. (Pubitemid 44182767)
5. Bowness P. HLA B27 in health and disease: a double-edged sword? Rheumatology (Oxford) 2002;41:857-868.
6. Sims AM, Wordsworth BP, Brown MA. Genetic susceptibility to ankylosing spondylitis. Curr Mol Med 2004;4:13-20. (Pubitemid 38279427)
7. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A et al. Association scan of 14, 500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007;39:1329-1337. (Pubitemid 350041542)
8. Brown MA. Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology (Oxford) 2008;47:132-137. (Pubitemid 351168219)
9. Harvey D, Pointon JJ, Evans DM, Karaderi T, Farrar C, Appleton LH et al. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Hum Mol Genet 2009;18:4204-4212.
10. Tsui FW, Haroon N, Reveille JD, Rahman P, Chiu B, Tsui HW et al. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. Ann Rheum Dis 2010;69:733-736.
11. Maksymowych WP, Inman RD, Gladman DD, Reeve JP, Pope A, Rahman P. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. Arthritis Rheum 2009;60:1317-1323.
12. Brown MA. Genetics and the pathogenesis of ankylosing spondylitis. Curr Opin Rheumatol 2009;21:318-323.
13. Reveille JD. The genetic basis of ankylosing spondylitis. Curr Opin Rheumatol 2006;18:332-341. (Pubitemid 44297276)
14. Carter KW, Pluzhnikov A, Timms AE, Miceli-Richard C, Bourgain C, Wordsworth BP et al. Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis. Rheumatology (Oxford) 2007;46:763-771. (Pubitemid 47061705)
15. Kulkarni S, Martin MP, Carrington M. The Yin and Yang of HLA and KIR in human disease. Semin Immunol 2008;20:343-352.
16. Diaz-Pena R, Blanco-Gelaz MA, Lopez-Larrea C. KIR genes and their role in spondyloarthropathies. Adv Exp Med Biol 2009;649:286-299.
17. Gardiner CM. Killer cell immunoglobulin-like receptors on NK cells: the how, where and why. Int J Immunogenet 2008;35:1-8.
18. Vilches C, Parham P. KIR: diverse, rapidly evolving receptors of innate and adaptive immunity. Annu Rev Immunol 2002;20:217-251. (Pubitemid 34293425)
19. Parham P. Immunogenetics of killer cell immunoglobulin-like receptors. Mol Immunol 2005;42:459-462. (Pubitemid 39655954)
20. + T cells. J Immunol 2004;173:7223-7229. (Pubitemid 39628158)
21. de Maria A, Ferraris A, Guastella M, Pilia S, Cantoni C, Polero L et al. Expression of HLA class I-specific inhibitory natural killer cell receptors in HIV-specific cytolytic T lymphocytes: impairment of specific cytolytic functions. Proc Natl Acad Sci USA 1997;94:10285-10288. (Pubitemid 27407033)
22. + T cells. J Immunol 2009;182:92-101.
23. Parham P. MHC class I molecules and KIRs in human history, health and survival. Nat Rev Immunol 2005;5:201-214. (Pubitemid 40364822)
24. Sambrook JG, Bashirova A, Palmer S, Sims S, Trowsdale J, Abi-Rached L et al. Single haplotype analysis demonstrates rapid evolution of the killer immunoglobulin-like receptor (KIR) loci in primates. Genome Res 2005;15:25-35.
25. Chan AT, Kollnberger SD, Wedderburn LR, Bowness P. Expansion and enhanced survival of natural killer cells expressing the killer immunoglobulin-like receptor KIR3DL2 in spondylarthritis. Arthritis Rheum 2005;52:3586-3595. (Pubitemid 41612228)
26. Nelson GW, Martin MP, Gladman D, Wade J, Trowsdale J, Carrington M. Cutting edge: heterozygote advantage in autoimmune disease: hierarchy of protection/susceptibility conferred by HLA and killer Ig-like receptor combinations in psoriatic arthritis. J Immunol 2004;173:4273-4276. (Pubitemid 39280654)
27. Martin MP, Carrington M. KIR locus polymorphisms: genotyping and disease association analysis. Methods Mol Biol 2008;415:49-64.
28. Ploski R, Luszczek W, Kusnierczyk P, Nockowski P, Cislo M, Krajewski P et al. A role for KIR gene variants other than KIR2DS1 in conferring susceptibility to psoriasis. Hum Immunol 2006;67:521-526. (Pubitemid 43994244)
29. Holm SJ, Sakuraba K, Mallbris L, Wolk K, Stahle M, Sanchez FO. Distinct HLA-C/KIR genotype profile associates with guttate psoriasis. J Invest Dermatol 2005;125:721-730.
30. Lorentzen AR, Karlsen TH, Olsson M, Smestad C, Mero IL, Woldseth B et al. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. Ann Neurol 2009;65:658-666.
31. Lopez-Larrea C, Blanco-Gelaz MA, Torre-Alonso JC, Bruges Armas J, Suarez-Alvarez B, Pruneda L et al. Contribution of KIR3DL1/3DS1 to ankylosing spondylitis in human leukocyte antigen-B27 Caucasian populations. Arthritis Res Ther 2006;8: R101.
32. Diaz-Pena R, Blanco-Gelaz MA, Suarez-Alvarez B, Martinez-Borra J, Lopez-Vazquez A, Alonso-Arias R et al. Activating KIR genes are associated with ankylosing spondylitis in Asian populations. Hum Immunol 2008;69:437-442.
33. Jiao YL, Ma CY, Wang LC, Cui B, Zhang J, You L et al. Polymorphisms of KIRs gene and HLA-C alleles in patients with ankylosing spondylitis: possible association with susceptibility to the disease. J Clin Immunol 2008;28:343-349.
34. Harvey D, Pointon JJ, Sleator C, Meenagh A, Farrar C, Sun JY et al. Analysis of killer immunoglobulin-like receptor genes in ankylosing spondylitis. Ann Rheum Dis 2009;68:595-598.
35. Zhang BC, Liu Y, Jiao YL, Zhao YR, Li JF. Genotype and haplotype analysis of killer cell immunoglobulin-like receptors in ankylosing spondylitis. Zhonghua Yi Xue Za Zhi 2009;89:91-95. Chinese.
36. Gumperz JE, Litwin V, Phillips JH, Lanier LL, Parham P. The Bw4 public epitope of HLA-B molecules confers reactivity with natural killer cell clones that express NKB1, a putative HLA receptor. J Exp Med 1995;181:1133-1144.
37. Litwin V, Gumperz J, Parham P, Phillips JH, Lanier LL. NKB1: a natural killer cell receptor involved in the recognition of polymorphic HLA-B molecules. J Exp Med 1994;180:537-543. (Pubitemid 24224130)
38. Vitale M, Sivori S, Pende D, Augugliaro R, Di Donato C, Amoroso A et al. Physical and functional independency of p70 and p58 natural killer (NK) cell receptors for HLA class I: their role in the definition of different groups of alloreactive NK cell clones. Proc Natl Acad Sci USA 1996;93:1453-1457. (Pubitemid 26075144)
39. Gomez-Lozano N, Estefania E, Williams F, Halfpenny I, Middleton D, Solis R et al. The silent KIR3DP1 gene (CD158c) is transcribed and might encode a secreted receptor in a minority of humans, in whom the KIR3DP1, KIR2DL4 and KIR3DL1/KIR3DS1 genes are duplicated. Eur J Immunol 2005;35:16-24. (Pubitemid 40123847)
40. Carrington M, Gao X, Norman P. KIR gene allele frequencies in populations from USA (African American) USA (European) and England. Human Immunology 2004;65:1191.
41. Available from: www.allelefrequencies.net
42. Lanier LL, Corliss BC, Wu J, Leong C, Phillips JH. Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. Nature 1998;391:703-707. (Pubitemid 28113218)
43. Gillespie GM, Bashirova A, Dong T, McVicar DW, Rowland-Jones SL, Carrington M. Lack of KIR3DS1 binding to MHC class I Bw4 tetramers in complex with CD81 T cell epitopes. AIDS Res Hum Retroviruses 2007;23:451-455. (Pubitemid 46608565)
44. Martin MP, Gao X, Lee JH, Nelson GW, Detels R, Goedert JJ et al. Epistatic interaction between KIR3DS1 and HLA-B delays the progression to AIDS. Nat Genet 2002;31:429-434. (Pubitemid 35154456)
45. Alter G, Martin MP, Teigen N, Carr WH, Suscovich TJ, Schneidewind A et al. Differential natural killer cell-mediated inhibition of HIV-1 replication based on distinct KIR/HLA subtypes. J Exp Med 2007;204:3027-3036. (Pubitemid 350179568)
46. Li H, Pascal V, Martin MP, Carrington M, Anderson SK. Genetic control of variegated KIR gene expression: polymorphisms of the bi-directional KIR3DL1 promoter are associated with distinct frequencies of gene expression. PLoS Genet 2008;4: e1000254.
47. Gardiner CM, Guethlein LA, Shilling HG, Pando M, Carr WH, Rajalingam R et al. Different NK cell surface phenotypes defined by the DX9 antibody are due to KIR3DL1 gene polymorphism. J Immunol 2001;166:2992-3001. (Pubitemid 33117294)
48. Yawata M, Yawata N, Draghi M, Little AM, Partheniou F, Parham P. Roles for HLA and KIR polymorphisms in natural killer cell repertoire selection and modulation of effector function. J Exp Med 2006;203:633-645.
49. Pascal V, Yamada E, Martin MP, Alter G, Altfeld M, Metcalf JA et al. Detection of KIR3DS1 on the cell surface of peripheral blood NK cells facilitates identification of a novel null allele and assessment of KIR3DS1 expression during HIV-1 infection. J Immunol 2007;179:1625-1633.
50. Pando MJ, Gardiner CM, Gleimer M, McQueen KL, Parham P. The protein made from a common allele of KIR3DL1 (3DL1*004) is poorly expressed at cell surfaces due to substitution at positions 86 in Ig domain 0 and 182 in Ig domain 1. J Immunol 2003;171:6640-6649. (Pubitemid 37532096)
51. Martin MP, Qi Y, Gao X, Yamada E, Martin JN, Pereyra F et al. Innate partnership of HLA-B and KIR3DL1 subtypes against HIV-1. Nat Genet 2007;39:733-740. (Pubitemid 46848586)
52. van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984;27:361-368. (Pubitemid 14134775)
53. Uhrberg M, Valiante NM, Shum BP, Shilling HG, Lienert-Weidenbach K, Corliss B et al. Human diversity in killer cell inhibitory receptor genes. Immunity 1997;7:753-763. (Pubitemid 28064889)
54. van Bergen J, Stewart CA, van den Elsen PJ, Trowsdale J. Structural and functional differences between the promoters of independently expressed killer cell Ig-like receptors. Eur J Immunol 2005;35:2191-2199. (Pubitemid 41015058)
55. Trundley A, Frebel H, Jones D, Chang C, Trowsdale J. Allelic expression patterns of KIR3DS1 and 3DL1 using the Z27 and DX9 antibodies. Eur J Immunol 2007;37:780-787. (Pubitemid 46916944)
56. Remtoula N, Bensussan A, Marie-Cardine A. Cutting edge: selective expression of inhibitory or activating killer cell Ig-like receptors in circulating CD41 T lymphocytes. J Immunol 2008;180:2767-2771.