PADI4 polymorphisms and related haplotype in rheumatoid arthritis patients

Joint Bone Spine

Volumn 79, Issue 2, 2012, Pages 124-128

  Abd Allah, Somia H ^a   El Shal, Amal S ^a   Shalaby, Sally M ^a   Pasha, Heba F ^a   El Saoud, Amany M Abou ^a   El Najjar, Amany R ^a   El Shahawy, Eman E ^a  

^a ZAGAZIG UNIVERSITY   (Egypt)

Author keywords

Anti MCV; PADI4; Rheumatoid arthritis; Single nucleotide polymorphism

Indexed keywords

PEPTIDYL ARGININE DEIMINASE TYPE 4; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; VIMENTIN;

ADULT; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; EGYPT; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RHEUMATOID ARTHRITIS; SHORT SURVEY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ARTHRITIS, RHEUMATOID; CASE-CONTROL STUDIES; EGYPT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; HYDROLASES; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX;

EID: 84857798501     PISSN: 1297319X     EISSN: 17787254     Source Type: Journal    
DOI: 10.1016/j.jbspin.2011.07.006     Document Type: Short Survey

References (40)

1. Mac Gregor A.J., Snieder H., Rigby A.S., et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000, 43:30-37.
2. du Montcel S.T., Michou L., Petit-Teixeira E., et al. New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthritis Rheum 2005, 52:1063-1068.
3. Lin L., Chen Y., Xiao Z., et al. The association of HLA-DRB1 alleles with rheumatoid arthritis in the Chinese Shantou population: a follow-up study. Biochem Cell Biol 2007, 85:227-238.
4. Wilcox M.A., Li Z., Tapper W. Genetic association with rheumatoid arthritis-Genetic Analysis Workshop 15: summary of contributions from Group 2. Genetic Epidemiol 2007, 31:S12-S21.
5. Zhou Z., Menard H.A. Autoantigenic posttranslational modifications of proteins: does it apply to rheumatoid arthritis?. Curr Opin Rheumatol 2002, 14:250-253.
6. Dieude P. Rheumatic diseases: environment and genetics. Joint Bone Spine 2009, 76:602-607.
7. Soós L., Szekanecz Z., Szabo Z., et al. Clinical evaluation of anti-mutated citrullinated vimentin by ELISA in rheumatoid arthritis. J Rheumatol 2007, 34:1658-1663.
8. Usum J., Nielen M.M., van Schaardenburg D., et al. Antibodies to mutated citrullinated vimentin and disease activity score in early arthritis: a cohort study. Arthritis Res Ther 2008, 10:R12.
9. Mathsson L., Mullazehi M., Wick M.C., et al. Antibodies against citrullinated vimentin in rheumatoid arthritis higher sensitivity and extended prognostic value concerning future radiographic progression as compared with antibodies against cyclic citrullinated peptides. Arthritis Rheum 2008, 58:36-45.
10. Suzuki A., Yamada R., Chang X., et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 2003, 34:395-402.
11. Iwamoto T., Ikari K., Nakamura T., et al. Association between PADI4 and rheumatoid arthritis: a meta-analysis. Rheumatology 2006, 45:804-807.
12. Freudenberg J., Lee H.S., Han B.G., et al. Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. Arthritis Rheum 2011, 63:884-893.
13. Arnett F.C., Edworthy S.M., Bloch D.A., et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988, 31:315-324.
14. Prevoo M.L., van't Hof M.A., Kuper H.H., et al. Modified disease activity scores that include twenty-eight-joint counts. Development and validation in a prospective longitudinal study of patients with rheumatoid arthritis. Arthritis Rheum 1995, 38:44-48.
15. Rau R., Hehborn J. Modified version of Larsen scoring methods to assess radiologic changes in rheumatoid arthritis. J Rheum 1995, 22:1976-1982.
16. Ling Mei, Xiaohui Li, Kai Yang, et al. Evaluating gene×gene and gene×smoking interaction in rheumatoid arthritis using candidate genes in GAW15. BMC Proc 2007, 1:S17.
17. Kochi Y., Thabet M.M., Suzuki A., et al. PADI4 polymorphism predisposes male smokers to rheumatoid arthritis. Ann Rheum Dis 2011, 70:512-515.
18. Caponi L., Petit-Teixeira E., Sebbag M., et al. A family based study shows no association between rheumatoid arthritis and the PADI4 gene in a white French population. Ann Rheum Dis 2005, 64:587-593.
19. Gordon D., Haynes C., Blumenfeld J., et al. PAWE-3D: visualizing power for association with error in case/control genetic studies of complex traits. Bioinformatics 2005, 21:3935-3937.
20. Anzilotti C., Pratesi F., Tommasi C., et al. Peptidylarginine deiminase 4 and citrullination in health and disease. Autoimmun Rev 2010, 9:158-160.
21. Gandjbakhch F., Fajardy I., Ferré B., et al. A functional haplotype of PADI4 gene in rheumatoid arthritis: positive correlation in a French population. J Rheum 2009, 36:881-886.
22. Kang C.P., Lee H., Ju H., et al. A. functional haplotype of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Koreans. Arthritis Rheum 2006, 54:90-96.
23. Fan L.Y., Wang W.J., Wang Q., et al. A functional haplotype and expression of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Chinese. Tissue Antigens 2008, 72:469-473.
24. Hoppe B., Haupl T., Gruber R., et al. Detailed analysis of the variability of peptidylarginine deiminase type 4 in German patients with rheumatoid arthritis: a case-control study. Arthritis Res Ther 2006, 8:R34.
25. Barton A., Bowes J., Eyre S., et al. A functional haplotype of the PADI4 gene associated with rheumatoid arthritis in a Japanese population is not associated in a United Kingdom population. Arthritis Rheum 2004, 50:1117-1121.
26. Ikari K., Kuwahara M., Nakamura T., et al. Association between PADI4 and rheumatoid arthritis: a replication study. Arthritis Rheum 2005, 52:3054-3057.
27. Vossenaar E.R., Zandman A.J.W., van Venrooij W.J. Citrullination, a possible functional link between susceptibility genes and rheumatoid arthritis. Arthritis Res Ther 2004, 6:1-5.
28. Takata Y., Inoue H., Sato A., et al. Replication of reported genetic associations of PADI4, FCRL3. SLC22A4 and RUNX1 genes with rheumatoid arthritis: results of an independent Japanese population and evidence from meta-analysis of East Asian studies. J Hum Genet 2008, 53:163-173.
29. Chen C.C., Isomoto H., Narumi Y., et al. Haplotypes of PADI4 susceptible to rheumatoid arthritis are also associated with ulcerative colitis in the Japanese population. Clin Immunol 2008, 126:165-171.
30. Martinez A., Valdivia A., Pascual-Salcedo D., et al. PADI4 polymorphisms are not associated with rheumatoid arthritis in the Spanish population. Rheumatology 2005, 44:1263-1266.
31. Burr M.L., Naseem H., Hinks A., et al. PADI4 genotype is not associated with rheumatoid arthritis in a large UK Caucasian population. Ann Rheum Dis 2010, 69:666-670.
32. Dejaco C., Klotz W., Larcher H., et al. Diagnostic value of antibodies against a modified citrullinated vimentin in rheumatoid arthritis. Arthritis Res Ther 2006, 8:R119.
33. Innala L., Kokkonen H., Eriksson C., et al. Antibodies against mutated citrullinated vimentin are a better predictor of disease activity at 24months in early rheumatoid arthritis than antibodies against citrullinated peptides. J Rheumatol 2008, 35:1002-1008.
34. Cha S., Choi C.B., Han T.U., et al. Association of anti-cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis. Arthritis Rheum 2007, 56:1454-1463.
35. Harris M.L., Darrah E., Lam G.K., et al. Association of autoimmunity to peptidyl arginine deiminase type 4 with genotype and disease severity in rheumatoid arthritis. Arthritis Rheum 2008, 58:1958-1967.
36. Nishimoto K., Ikari K., Mochizuki T., et al. Lack of association between PADI4 and functional severity in Japanese rheumatoid arthritis patients. Ann Rheum Dis 2008, 67:431-432.
37. Bang S.Y., Han T.U., Choi C.B., et al. Peptidyle arginine deiminase type IV (PADI4) haplotypes interact with shared epitope regardless of anti-cyclic citrullinated peptide antibody or erosive joint status in rheumatoid arthritis: a case control study. Arthritis Res Ther 2010, 12:R115.
38. Hoppe B., Haupl T., Egerer K., et al. Influence of peptidylarginine deiminase type 4 genotype and shared epitope on clinical characteristics and autoantibody profile of rheumatoid arthritis. Ann Rheum Dis 2009, 68:898-903.
39. Barton A., Bowes J., Eyre S., et al. Investigation of polymorphisms in the PADI4 gene in determining severity of inflammatory polyarthritis. Ann Rheum Dis 2005, 64:1311-1315.
40. Hattersley A.T., McCarthy M.I. What makes a good genetic association study?. Lancet 2005, 366:1315-1323.