A regulatory SNP at position -899 in CDKN1A is associated with systemic lupus erythematosus and lupus nephritis

Genes and Immunity

Volumn 10, Issue 5, 2009, Pages 482-486

  Kim, K ^a   Sung, Y K ^a   Kang, C P ^a,c   Choi, C B ^b,d   Kang, C ^a   Bae, S C ^b  

^a Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^b Hanyang University College of Medicine   (South Korea)

^c NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^d Dankook University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1A; HLA DR ANTIGEN; LUCIFERASE; MESSENGER RNA; PROTEIN P21;

ADULT; ALLELE; ARTICLE; B LYMPHOCYTE; CHROMOSOME 6P; CONTROLLED STUDY; EPSTEIN BARR VIRUS; FEMALE; GENE LOCUS; GENE NUMBER; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; INTRON; KOREA; LUPUS ERYTHEMATOSUS NEPHRITIS; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ASIAN CONTINENTAL ANCESTRY GROUP; CYCLIN-DEPENDENT KINASE INHIBITOR P21; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; LUPUS NEPHRITIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

HUMAN HERPESVIRUS 4;

EID: 67849111539     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2009.5     Document Type: Article

References (22)

1. Sarzi-Puttini P, Atzeni F, Laccarino L, Doria A. Environment and systemic lupus erythematosus: An overview. Autoimmunity 2005; 38: 465-472.
2. Prokunina L, Alarcon-Riquelme M. The genetic basis of systemic lupus erythematosus - knowledge of today and thoughts for tomorrow. Hum Mol Genet 2004; 13 (Spec No 1): R143-R148.
3. Kotzin BL. Systemic lupus erythematosus. Cell 1996; 85: 303-306.
4. Yacoub Wasef SZ. Gender differences in systemic lupus erythematosus. Gend Med 2004; 1: 12-17.
5. Datta SK, Zhang L, Xu L. T-helper cell intrinsic defects in lupus that break peripheral tolerance to nuclear autoantigens. J Mol Med 2005; 83: 267-278.
6. Balomenos D, Martin-Caballero J, Garcia MI, Prieto I, Flores JM, Serrano M et al. The cell cycle inhibitor p21 controls T-cell proliferation and sex-linked lupus development. Nat Med 2000; 6 171-176.
7. Xu L, Zhang L, Yi Y, Kang HK, Datta SK. Human lupus T cells resist inactivation and escape death by upregulating COX-2. Nat Med 2004; 10: 411-415.
8. Lee YH, Harley JB, Nath SK. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): A meta-analysis. Hum Genet 2005; 116: 361-367.
9. Gaffney PM, Ortmann WA, Selby SA, Shark KB, Ockenden TC, Rohlf KE et al. Genome screening in human systemic lupus erythematosus: Results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet 2000; 66: 547-556.
10. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008; 358: 900-909.
11. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008; 40: 204-210.
12. Ho CY, Wong CK, Li EK, Tam LS, Lam CW. Expression of cyclin B1 and cyclin dependent kinase inhibitor p21 in lymphocytes in patients with systemic lupus erythematosus. J Rheumatol 2002; 29: 2537-2544.
13. Goulvestre C, Chereau C, Nicco C, Mouthon L, Weill B, Batteux F. A mimic of p21WAF1/CIP1 ameliorates murine lupus. J Immunol 2005; 175 6959-6967.
14. Choi CB, Park S, Lee KW, Bae SC. HLA-DRB1 with susceptibility to and clinical manifestations of systemic lupus erythematosus in Koreans. Arthritis Rheum 2008; 58(Suppl 9): S804.
15. Healy J, Belanger H, Beaulieu P, Lariviere M, Labuda D, Sinnett D. Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia. Blood 2007; 109: 683-692.
16. Berge T, Bergholtz SL, Andersson KB, Gabrielsen OS. A novel yeast system for in vivo selection of recognition sequences: Defining an optimal c-Myb-responsive element. Nucleic Acids Res 2001; 29 E99.
17. Andersson KB, Berge T, Matre V, Gabrielsen OS. Sequence selectivity of c-Myb in vivo. Resolution of a DNA target specificity paradox. J Biol Chem 1999; 274: 21986-21994.
18. Fotedar R, Bendjennat M, Fotedar A. Functional analysis of CDK inhibitor p21WAF1. Methods Mol Biol 2004; 281: 55-71.
19. Arias CF, Ballesteros-Tato A, Garcia MI, Martin-Caballero J, Flores JM, Martinez AC et al. p21CIP1/WAF1 controls proliferation of activated/memory T cells and affects homeostasis and memory T cell responses. J Immunol 2007; 178: 2296-2306.
20. Kong EK, Chong WP, Wong WH, Lau CS, Chan TM, Ng PK et al. p21 gene polymorphisms in systemic lupus erythematosus. Rheumatology (Oxford) 2007; 46: 220-226.
21. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF et al The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271-1277.
22. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997; 40: 1725.