Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis

Rheumatology International

Volumn 36, Issue 3, 2016, Pages 429-435

  Momenzadeh, Parisa ^a,b   Mahmoudi, Mahdi ^b,d   Beigy, Maani ^b   Garshasbi, Masoud ^c   Vodjdanian, Mahdi ^b   Farazmand, Ali ^a   Jamshidi, Ahmad Reza ^b  

^a UNIVERSITY OF TEHRAN   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TARBIAT MODARES UNIVERSITY   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Ankylosing spondylitis; ANTXR2; CARD9; IL1R2; SNAPC4

Indexed keywords

ANTHRAX TOXIN RECEPTOR 2; CASPASE RECRUITMENT DOMAIN PROTEIN 9; HLA B27 ANTIGEN; INTERLEUKIN 1 RECEPTOR TYPE II; PEPTIDES AND PROTEINS; SMALL NUCLEAR RNA ACTIVATING COMPLEX POLYPEPTIDE 4; UNCLASSIFIED DRUG; ANTXR2 PROTEIN, HUMAN; CARD9 PROTEIN, HUMAN; CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; DNA BINDING PROTEIN; IL1R2 PROTEIN, HUMAN; RECEPTOR; SNAPC4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ALLELE; ANKYLOSING SPONDYLITIS; ARTICLE; BATH ANKYLOSING SPONDYLITIS DISEASE ACTIVITY INDEX; BATH ANKYLOSING SPONDYLITIS FUNCTIONAL INDEX; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; IRANIAN PEOPLE; MAJOR CLINICAL STUDY; MALE; PAIN ASSESSMENT; PATHOGENESIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CHI SQUARE DISTRIBUTION; EPIDEMIOLOGY; ETHNOLOGY; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; IMMUNOLOGY; IRAN; MIDDLE AGED; ODDS RATIO; PHENOTYPE; PROTECTION; RISK FACTOR; SEVERITY OF ILLNESS INDEX; SPONDYLITIS, ANKYLOSING; STATISTICAL MODEL; YOUNG ADULT;

ADULT; CARD SIGNALING ADAPTOR PROTEINS; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; DNA-BINDING PROTEINS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HLA-B27 ANTIGEN; HOMOZYGOTE; HUMANS; IRAN; LOGISTIC MODELS; MALE; MIDDLE AGED; ODDS RATIO; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTECTIVE FACTORS; RECEPTORS, INTERLEUKIN-1 TYPE II; RECEPTORS, PEPTIDE; RISK FACTORS; SEVERITY OF ILLNESS INDEX; SPONDYLITIS, ANKYLOSING; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84958641395     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-015-3391-1     Document Type: Article

References (27)

1. Dougados M, Baeten D (2011) Spondyloarthritis. Lancet 18(377):2127–2137
2. Huang J, Li C, Xu H, Gu J (2008) Novel non-HLA-susceptible regions determined by meta-analysis of four genomewide scans for ankylosing spondylitis. J Genet 87:75–81
3. Reveille JD, Sims AM, Danoy P et al (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 42:123–127
4. Reveille JD (2012) Genetics of spondyloarthritis—beyond the MHC. Nat Rev Rheumatol 8:296–304
5. Chen B, Li D, Xu W (2013) Association of ankylosing spondylitis with HLA-B27 and ERAP1: pathogenic role of antigenic peptide. Med Hypotheses 80:36–38
6. Nicknam MH, Mahmoudi M, Amirzargar AA et al (2008) Determination of HLA-B27 subtypes in Iranian patients with ankylosing spondylitis. Iran J Allergy Asthma Immunol 7:19–24
7. Mahmoudi M, Jamshidi AR, Amirzargar AA et al (2012) Association between endoplasmic reticulum aminopeptidase-1 (ERAP-1) and susceptibility to ankylosing spondylitis in Iran. Iran J Allergy Asthma Immunol 11:294–300
8. Burton PR, Clayton DG, Cardon LR et al (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39:1329–1337
9. Evans DM, Spencer CC, Pointon JJ et al (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 43:761–767
10. Haroon N, Tsui FW, Chiu B, Tsui HW, Inman RD (2010) Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms. J Rheumatol 37:1907–1910
11. Ma X, Liu Y, Zhang H et al (2014) Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese han population. J Rheumatol 41:318–324
12. van der Heijde D, van der Linden S, Bellamy N, Calin A, Dougados M, Khan MA (1999) Which domains should be included in a core set for endpoints in ankylosing spondylitis? Introduction to the ankylosing spondylitis module of OMERACT IV. J Rheumatol 26:945–947
13. Garrett S, Jenkinson T, Kennedy LG, Whitelock H, Gaisford P, Calin A (1994) A new approach to defining disease status in ankylosing spondylitis: the Bath Ankylosing Spondylitis Disease Activity Index. J Rheumatol 21:2286–2291
14. Calin A, Garrett S, Whitelock H et al (1994) A new approach to defining functional ability in ankylosing spondylitis: the development of the Bath Ankylosing Spondylitis Functional Index. J Rheumatol 21:2281–2285
15. Jones SD, Porter J, Garrett SL, Kennedy LG, Whitelock H, Calin A (1995) A new scoring system for the Bath Ankylosing Spondylitis Metrology Index (BASMI). J Rheumatol 22:1609
16. Bidad K, Fallahi S, Mahmoudi M et al (2012) Evaluation of the Iranian versions of the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), the Bath Ankylosing Spondylitis Functional Index (BASFI) and the Patient Acceptable Symptom State (PASS) in patients with ankylosing spondylitis. Rheumatol Int 32:3613–3618
17. Roe BA, Crabtree JS, Khan AS (editors) (1995) Methods for DNA isolation. Part III. In: Protocols for recombinant DNA isolation, cloning, and sequencing [Internet edition], pp 2488–2498. University of Oklahoma, Norman, New York: Wiley; 1996. Available from: http://www.genome.ou.edu/protocol_book/protocol_index.html; also available in paper copy as: DNA isolation and sequencing
18. Balding DJ (2006) A tutorial on statistical methods for population association studies. Nat Rev Genet 7:781–791
19. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser B (Methodol) 57:289–300
20. Chen C, Zhang X, Wang Y (2012) ANTXR2 and IL-1R2 polymorphisms are not associated with ankylosing spondylitis in Chinese Han population. Rheumatol Int 32:15–19
21. LeibundGut-Landmann S (2007) Syk- and CARD9-dependent coupling of innate immunity to the induction of T helper cells that produce interleukin 17. Nat Immunol 8:630–663
22. Pointon JJ, Harvey D, Karaderi T et al (2010) Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene. Genes Immun 11:490–496
23. Khan MA (1978) Race-related differences in HLA association with ankylosing spondylitis and Reiter’s disease in American blacks and whites. J Natl Med Assoc 70:41–42
24. Fouladi S, Adib M, Salehi M, Karimzadeh H, Bakhshiani Z, Ostadi V (2009) Distribution of HLA-B*27 alleles in patients with ankylosing spondylitis in Iran. Irani J Immunol IJI 6:49–54
25. Nicknam MH, Mahmoudi M, Amirzargar AA, Jamshidi AR, Rezaei N, Nikbin B (2009) HLA-B27 subtypes and tumor necrosis factor α promoter region polymorphism in Iranian patients with ankylosing spondylitis. Eur Cytokine Netw 20:17–20
26. Nicknam M, Ganjalikhani Hakemi M, Jamshidi A, Khosravi F (2005) Association between HLA-B27 antigen and ankylosing spondylitis in Iranian patients. Hakim J 8:29–34
27. Fallahi S, Mahmoudi M, Nicknam MH et al (2013) Effect of HLA-B* 27 and its subtypes on clinical manifestations and severity of ankylosing spondylitis in Iranian patients. Iran J Allergy Asthma Immunol 12:321–330