Association of ORAI1 haplotypes with the risk of HLA-B27 positive ankylosing spondylitis

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Wei, James Cheng Chung ^a   Yen, Jeng Hsien ^c,e   Juo, Suh Hang Hank ^b,c   Chen, Wei Chiao ^b   Wang, Yu Shiuan ^b   Chiu, Yi Ching ^b   Hsieh, Tusty Jiuan ^b   Guo, Yuh Cherng ^g   Huang, Chun Huang ^a   Wong, Ruey Hong ^a   Wang, Hui Po ^h   Tsai, Ke Li ^b   Wu, Yang Chang ⁱ   Chang, Hsueh Wei ^d   Hsi, Edward ^b   Chang, Wei Pin ^f   Chang, Wei Chiao ^b,c  

^a CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^c KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d Department of Biomedical Science and Environmental Biology ^*  (Taiwan)

^e KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^f YUANPEI UNIVERSITY   (Taiwan)

^g KAOHSIUNG MUNICIPAL HSIAO KANG HOSPITAL   (Taiwan)

^h TAIPEI MEDICAL UNIVERSITY   (Taiwan)

ⁱ CHINA MEDICAL UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL 1; HLA B27 ANTIGEN; CALCIUM CHANNEL; ORAI1 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; ALLELE; ANKYLOSING SPONDYLITIS; ARTICLE; BATH ANKYLOSING SPONDYLITIS DISEASE ACTIVITY INDEX; BATH ANKYLOSING SPONDYLITIS FUNCTIONAL INDEX; BATH ANKYLOSING SPONDYLITIS GLOBAL INDEX; CASE CONTROL STUDY; CHILD; CHINESE; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENETIC ASSOCIATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; IMMUNOREGULATION; MAJOR CLINICAL STUDY; MALE; ORAI1 GENE; PRESCHOOL CHILD; PROMOTER REGION; RATING SCALE; RISK ASSESSMENT; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TAIWANESE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CALCIUM CHANNELS; CASE-CONTROL STUDIES; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HLA-B27 ANTIGEN; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; SPONDYLITIS, ANKYLOSING; YOUNG ADULT;

EID: 79957800300     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0020426     Document Type: Article

References (38)

1. Braun J, Sieper J, (2007) Ankylosing spondylitis. Lancet 369: 1379-1390.
2. van der Heijde D, Calin A, Dougados M, Khan MA, van der Linden S, et al. (1999) Selection of instruments in the core set for DC-ART, SMARD, physical therapy, and clinical record keeping in ankylosing spondylitis. Progress report of the ASAS Working Group. Assessments in Ankylosing Spondylitis. J Rheumatol 26: 951-954.
3. Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, et al. (1997) Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum 40: 1823-1828.
4. Brewerton DA, Hart FD, Nicholls A, Caffrey M, James DC, et al. (1973) Ankylosing spondylitis and HL-A 27. Lancet 1: 904-907.
5. Khan MA, Ball EJ, (2002) Genetic aspects of ankylosing spondylitis. Best Pract Res Clin Rheumatol 16: 675-690.
6. Guo ZS, Li C, Lin ZM, Huang JX, Wei QJ, et al. (2010) Association of IL-1 gene complex members with ankylosing spondylitis in Chinese Han population. Int J Immunogenet 37: 33-37.
7. Safrany E, Pazar B, Csongei V, Jaromi L, Polgar N, et al. (2009) Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples. Scand J Immunol 70: 68-74.
8. Wei JC, Tsai WC, Lin HS, Tsai CY, Chou CT, (2004) HLA-B60 and B61 are strongly associated with ankylosing spondylitis in HLA-B27-negative Taiwan Chinese patients. Rheumatology (Oxford) 43: 839-842.
9. Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, et al. (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 42: 123-127.
10. Assassi S, Reveille JD, Arnett FC, Weisman MH, Ward MM, et al. (2011) Whole-blood gene expression profiling in ankylosing spondylitis shows upregulation of toll-like receptor 4 and 5. J Rheumatol 38: 87-98.
11. Sanchez A, Szczypiorska M, Juanola X, Bartolome N, Gratacos J, et al. (2010) Association of the intergenic single-nucleotide polymorphism rs10865331 (2p15) with ankylosing spondylitis in a Spanish population. J Rheumatol 37: 2345-2347.
12. Furuichi T, Maeda K, Chou CT, Liu YF, Liu TC, et al. (2008) Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese. J Hum Genet 53: 419-424.
13. Chen C, Zhang X, Wang Y, (2010) Analysis of JAK2 and STAT3 polymorphisms in patients with ankylosing spondylitis in Chinese Han population. Clin Immunol 136: 442-446.
14. Berridge MJ, Bootman MD, Roderick HL, (2003) Calcium signalling: dynamics, homeostasis and remodelling. Nat Rev Mol Cell Biol 4: 517-529.
15. Hogan PG, Lewis RS, Rao A, (2010) Molecular basis of calcium signaling in lymphocytes: STIM and ORAI. Annu Rev Immunol 28: 491-533.
16. Penna A, Demuro A, Yeromin AV, Zhang SL, Safrina O, et al. (2008) The CRAC channel consists of a tetramer formed by Stim-induced dimerization of Orai dimers. Nature 456: 116-120.
17. Vig M, DeHaven WI, Bird GS, Billingsley JM, Wang H, et al. (2008) Defective mast cell effector functions in mice lacking the CRACM1 pore subunit of store-operated calcium release-activated calcium channels. Nat Immunol 9: 89-96.
18. Feske S, Gwack Y, Prakriya M, Srikanth S, Puppel SH, et al. (2006) A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature 441: 179-185.
19. Parekh AB, Putney JW Jr, (2005) Store-operated calcium channels. Physiol Rev 85: 757-810.
20. van der Linden S, Valkenburg HA, Cats A, (1984) Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 27: 361-368.
21. Wei JC, Wong RH, Huang JH, Yu CT, Chou CT, et al. (2007) Evaluation of internal consistency and re-test reliability of Bath ankylosing spondylitis indices in a large cohort of adult and juvenile spondylitis patients in Taiwan. Clin Rheumatol 26: 1685-1691.
22. Chou CT, Tsai YF, Liu J, Wei JC, Liao TS, et al. (2001) The detection of the HLA-B27 antigen by immunomagnetic separation and enzyme-linked immunosorbent assay-comparison with a flow cytometric procedure. J Immunol Methods 255: 15-22.
23. Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
24. Rudwaleit M, Siegert S, Yin Z, Eick J, Thiel A, et al. (2001) Low T cell production of TNFalpha and IFNgamma in ankylosing spondylitis: its relation to HLA-B27 and influence of the TNF-308 gene polymorphism. Ann Rheum Dis 60: 36-42.
25. Nilsen TW, (2007) Mechanisms of microRNA-mediated gene regulation in animal cells. Trends Genet 23: 243-249.
26. Chatzikyriakidou A, Voulgari PV, Georgiou I, Drosos AA, (2010) The role of microRNA-146a (miR-146a) and its target IL-1R-associated kinase (IRAK1) in psoriatic arthritis susceptibility. Scand J Immunol 71: 382-385.
27. Lopez D, Garcia-Hoyo R, Lopez de Castro JA, (1994) Clonal analysis of alloreactive T cell responses against the closely related B*2705 and B*2703 subtypes. Implications for HLA-B27 association to spondyloarthropathy. J Immunol 152: 5557-5571.
28. Colotta F, Re F, Muzio M, Bertini R, Polentarutti N, et al. (1993) Interleukin-1 type II receptor: a decoy target for IL-1 that is regulated by IL-4. Science 261: 472-475.
29. Chou CT, Timms AE, Wei JC, Tsai WC, Wordsworth BP, et al. (2006) Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese. Ann Rheum Dis 65: 1106-1109.
30. Shiau MY, Lo MK, Chang CP, Yang TP, Ho KT, et al. (2007) Association of tumour necrosis factor alpha promoter polymorphisms with ankylosing spondylitis in Taiwan. Ann Rheum Dis 66: 562-563.
31. Duncan DJ, Yang Z, Hopkins PM, Steele DS, Harrison SM, (2010) TNF-alpha and IL-1beta increase Ca2+ leak from the sarcoplasmic reticulum and susceptibility to arrhythmia in rat ventricular myocytes. Cell Calcium 47: 378-386.
32. Lee SK, Lee JO, Kim JH, Jung JH, You GY, et al. (2010) C-peptide stimulates nitrites generation via the calcium-JAK2/STAT1 pathway in murine macrophage Raw264.7 cells. Life Sci 86: 863-868.
33. Roberts-Thomson SJ, Peters AA, Grice DM, Monteith GR, (2010) ORAI-mediated calcium entry: mechanism and roles, diseases and pharmacology. Pharmacol Ther 127: 121-130.
34. Schindl R, Frischauf I, Bergsmann J, Muik M, Derler I, et al. (2009) Plasticity in Ca2+ selectivity of Orai1/Orai3 heteromeric channel. Proc Natl Acad Sci U S A 106: 19623-19628.
35. Abdullaev IF, Bisaillon JM, Potier M, Gonzalez JC, Motiani RK, et al. (2008) Stim1 and Orai1 mediate CRAC currents and store-operated calcium entry important for endothelial cell proliferation. Circ Res 103: 1289-1299.
36. Trebak M, (2009) STIM1/Orai1, ICRAC, and endothelial SOC. Circ Res 104: e56-57.
37. DeHaven WI, Smyth JT, Boyles RR, Putney JW Jr, (2007) Calcium inhibition and calcium potentiation of Orai1, Orai2, and Orai3 calcium release-activated calcium channels. J Biol Chem 282: 17548-17556.
38. Li Z, Lu J, Xu P, Xie X, Chen L, et al. (2007) Mapping the interacting domains of STIM1 and Orai1 in Ca2+ release-activated Ca2+ channel activation. J Biol Chem 282: 29448-29456.