Association of genetic polymorphisms in CD40 with susceptibility to SLE in the Korean population

Rheumatology (United Kingdom)

Volumn 52, Issue 4, 2013, Pages 623-630

  Joo, Young Bin ^a   Park, Byung Lae ^b   Shin, Hyoung Doo ^b,c   Park, So Yeon ^a   Kim, Il ^d   Bae, Sang Cheol ^a  

^a Hanyang University Hospital for Rheumatic Diseases   (South Korea)

^b SNP Genetics Inc   (South Korea)

^c Sogang University   (South Korea)

^d Dankook University College of Medicine   (South Korea)

Author keywords

CD40; Single nucleotide polymorphism; Systemic lupus erythematosus

Indexed keywords

CD40 ANTIGEN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADOLESCENT; ADULT; AGED; ANTIGENS, CD40; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LOGISTIC MODELS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; ODDS RATIO; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA; RISK FACTORS; YOUNG ADULT;

EID: 84875591412     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kes339     Document Type: Article

References (32)

1. Zhao J, Wu H, Khosravi M et al. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet 2011;7:e1002079.
2. Deng Y, Tsao BP. Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol 2010;6:683_92.
3. Shuang C, Dalin L, Weiguang Y et al. Association of CD40 gene polymorphisms with sporadic breast cancer in Chinese Han women of Northeast China. PLoS One 2011; 6:e23762.
4. Park JH, Chang HS, Park CS et al. Association analysis of CD40 polymorphisms with asthma and the level of serum total IgE. Am J Respir Crit Care Med 2007;175:775_82.
5. Foy TM, Aruffo A, Bajorath J, Buhlmann JE, Noelle RJ. Immune regulation by CD40 and its ligand GP39. Annu Rev Immunol 1996;14:591_617.
6. Clark LB, Foy TM, Noelle RJ. CD40 and its ligand. Adv Immunol 1996;63:43_78.
7. Karmann K, Hughes CC, Schechner J, Fanslow WC, Pober JS. CD40 on human endothelial cells: inducibility by cytokines and functional regulation of adhesion molecule expression. Proc Natl Acad Sci USA 1995;92: 4342_6.
8. Crow MK, Kirou KA. Regulation of CD40 ligand expression in systemic lupus erythematosus. Curr Opin Rheumatol 2001;13:361_9.
9. Jacobson EM, Concepcion E, Oashi T, Tomer Y. A Graves' disease-associated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation: a case for translational pathophysiology. Endocrinology 2005;146: 2684_91.
10. Rodriguez-Rodriguez L, Castaneda S, Vazquez-Rodriguez TR et al. Influence of CD40 rs1883832 polymorphism in susceptibility to and clinical manifestations of biopsy-proven giant cell arteritis. J Rheumatol 2010;37:2076_80.
11. Raychaudhuri S, Remmers EF, Lee AT et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 2008;40:1216_23.
12. Seldin MF, Amos CI. Shared susceptibility variations in autoimmune diseases: a brief perspective on common issues. Genes Immun 2009;10:1_4.
13. Palomino-Morales RJ, Rojas-Villarraga A, Gonzalez CI, Ramirez G, Anaya JM, Martin J. STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians. Genes Immun 2008;9:379_82.
14. Remmers EF, Plenge RM, Lee AT et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. New Engl J Med 2007;357:977_86.
15. Zervou MI, Sidiropoulos P, Petraki E et al. Association of a TRAF1 and a STAT4 gene polymorphism with increased risk for rheumatoid arthritis in a genetically homogeneous population. Human Immunol 2008;69:567_71.
16. Zervou MI, Vazgiourakis VM, Yilmaz N et al. TRAF1/C5, eNOS, C1q, but not STAT4 and PTPN22 gene polymorphisms are associated with genetic susceptibility to systemic lupus erythematosus in Turkey. Human Immunol 2011;72:1210_3.
17. Livak KJ. Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal 1999;14:143_9.
18. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978_89.
19. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263_5.
20. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004;74:765_9.
21. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004;74:765_9.
22. Menashe I, Rosenberg PS, Chen BE. PGA: power calculator for case-control genetic association analyses. BMC Genet 2008;9:36.
23. Skibola CF, Nieters A, Bracci PM et al. A functional TNFRSF5 gene variant is associated with risk of lymphoma. Blood 2008;111:4348_54.
24. Vazgiourakis VM, Zervou MI, Choulaki C et al. A common SNP in the CD40 region is associated with systemic lupus erythematosus and correlates with altered CD40 expression: implications for the pathogenesis. Ann Rheum Dis 2011;70:2184_90.
25. Chadha S, Miller K, Farwell L et al. Haplotype structure of TNFRSF5-TNFSF5 (CD40-CD40L) and association analysis in systemic lupus erythematosus. Eur J Hum Genet 2005;13:669_76.
26. Moser KL, Neas BR, Salmon JE et al. Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA 1998;95:14869_74.
27. Shai R, Quismorio FP Jr, Li L et al. Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet 1999;8:639_44.
28. Lee HS, Korman BD, Le JM et al. Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. Arthritis Rheum 2009;60:364_71.
29. Yellin MJ, Winikoff S, Fortune SM et al. Ligation of CD40 on fibroblasts induces CD54 (ICAM-1) and CD106 (VCAM-1) up-regulation and IL-6 production and proliferation. J Leuk Biol 1995;58:209_16.
30. van Kooten C, Gerritsma JS, Paape ME, van Es LA, Banchereau J, Daha MR. Possible role for CD40-CD40L in the regulation of interstitial infiltration in the kidney. Kidney Int 1997;51:711_21.
31. Yellin MJ, D'Agati V, Parkinson G et al. Immunohistologic analysis of renal CD40 and CD40L expression in lupus nephritis and other glomerulonephritides. Arthritis Rheum 1997;40:124_34.
32. Mohan C, Shi Y, Laman JD, Datta SK. Interaction between CD40 and its ligand gp39 in the development of murine lupus nephritis. J Immunol 1995;154:1470-80.