Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese

Genes and Immunity

Volumn 10, Issue 3, 2009, Pages 219-226

  Yang, W ^a   Ng, P ^a   Zhao, M ^a   Hirankarn, N ^b   Lau, C S ^a   Mok, C C ^c   Chan, T M ^a   Wong, R W S ^a   Lee, K W ^d   Mok, M Y ^a   Wong, S N ^c   Avihingsanon, Y ^b   Lee, T L ^a   Ho, M H K ^a   Lee, P P W ^a   Wong, W H S ^a   Lau, Y L ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHULALONGKORN UNIVERSITY   (Thailand)

^c TUEN MUN HOSPITAL   (Hong Kong)

^d PAMELA YOUDE NETHERSOLE EASTERN HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE; PROTEIN TYROSINE KINASE BLK; SERINE THREONINE KINASE PXK; STAT4 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; EUROPE; FEMALE; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HEMATOLOGIC DISEASE; HONG KONG; HUMAN; MAJOR CLINICAL STUDY; MALE; POPULATION GENETICS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HONG KONG; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE DISEQUILIBRIUM; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; STAT4 TRANSCRIPTION FACTOR;

EID: 67349113436     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2009.1     Document Type: Article

References (22)

1. Danchenko N, Satia JA, Anthony MS. Epidemiology of systemic lupus erythematosus: A comparison of worldwide disease burden. Lupus 2006; 15: 308-318.
2. Mok CC, Lau CS. Lupus in Hong Kong Chinese. Lupus 2003; 12: 717-722.
3. Mok CC, Tang SS. Incidence and predictors of renal disease in Chinese patients with systemic lupus erythematosus. Am J Med 2004; 117 791-795.
4. Seligman VA, Lum RF, Olson JL, Li H, Criswell LA. Demographic differences in the development of lupus nephritis: A retrospective analysis. Am J Med 2002; 112: 726-729.
5. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007; 357: 977-986.
6. Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, Gilkeson GS et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 2008; 40: 152-154.
7. 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.
8. 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.
9. Kobayashi S, Ikari K, Kaneko H, Kochi Y, Yamamoto K, Shimane K et al Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population. Arthritis Rheum 2008; 58: 1940-1946.
10. 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: 379-382.
11. Taylor KE, Remmers EF, Lee AT, Ortmann WA, Plenge RM, Tian C et al Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genet 2008; 4: E1000084.
12. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O et al. A common STAT4 risk haplotype for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA production and shows additive effects with two IRF5 risk alleles. Hum Mol Genet 2008; 17: 2868-2876.
13. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
14. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006; 38: 209-213.
15. Lovato P, Brender C, Agnholt J, Kelsen J, Kaltoft K, Svejgaard A et al. Constitutive STAT3 activation in intestinal T cells from patients with Crohn's disease. J Biol Chem 2003; 278: 16777-16781.
16. Martinez A, Varade J, Marquez A, Cenit MC, Espino L, Perdigones N et al. Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. Arthritis Rheum 2008; 58: 2598-2602.
17. Korman BD, Alba MI, Le JM, Alevizos I, Smith JA, Nikolov NP et al. Variant form of STAT4 is associated with primary Sjogren's syndrome. Genes Immun 2008; 9: 267-270.
18. Kawasaki A, Ito I, Hikami K, Ohashi J, Hayashi T, Goto D et al. Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: A case-control association study of the STAT1-STAT4 region. Arthritis Res Ther 2008; 10: R113.
19. Clatworthy MR, Willcocks L, Urban B, Langhorne J, Williams TN, Peshu N et al. Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria. Proc Natl Acad Sci USA 2007; 104: 7169-7174.
20. Willcocks LC, Lyons PA, Clatworthy MR, Robinson JI, Yang W, Newland SA et al. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 2008; 205: 1573-1582.
21. Hirankarn N, Avihingsanon Y, Wongpiyabovorn J. Genetic susceptibility to SLE is associated with TNF-alpha gene polymorphism -863, but not -308 and -238, in Thai population. Int J Immunogenet 2007; 34: 425-430.
22. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21 263-265.