A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 17, 2010, Pages 7881-7885

  Willcocks, Lisa C ^a   Carr, Edward J ^a   Niederer, Heather A ^a   Rayner, Tim F ^a   Williams, Thomas N ^b,c,d,e   Yang, Wanling ^f   Anthony G Scott, J ^b,c   Urban, Britta C ^b,g   Peshu, Norbert ^b   Vyse, Timothy J ^h   Lau, Yu Lung ^f   Lyons, Paul A ^a   Smith, Kenneth G C ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b KENYA MEDICAL RESEARCH INSTITUTE   (Kenya)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e Studies of the Epidemiology of Epilepsy in Demographic Surveillance Systems   (Ghana)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

^g LIVERPOOL SCHOOL OF TROPICAL MEDICINE   (United Kingdom)

^h HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Autoimmunity; Bacterial septicaemia; Genetic association study; Infectious disease; Selection

Indexed keywords

FC RECEPTOR IIB;

ARTICLE; BACTEREMIA; DISEASE PREDISPOSITION; GENE FREQUENCY; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALARIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GREAT BRITAIN; HOMOZYGOTE; HONG KONG; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALARIA; MOLECULAR SEQUENCE DATA; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, IGG; SEQUENCE ANALYSIS, DNA;

BACTERIA (MICROORGANISMS);

EID: 77951572775     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0915133107     Document Type: Article

References (37)

1. Lau CS, Yin G, Mok MY (2006) Ethnic and geographical differences in systemic lupus erythematosus: An overview. Lupus 15:715-719.
2. Alarcón-Segovia D, et al. (2005) Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 52:1138-1147. (Pubitemid 40530121)
3. Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA (2009) Genetic susceptibility to SLE: New insights from fine mapping and genome-wide association studies. Nat Rev Genet 10:285-290.
4. Kotzin BL (1996) Systemic lupus erythematosus. Cell 85:303-306.
5. Ravetch JV, Lanier LL (2000) Immune inhibitory receptors. Science 290:84-89.
6. Bolland S, Ravetch JV (2000) Spontaneous autoimmune disease in Fc(gamma)RIIB-deficient mice results from strain-specific epistasis. Immunity 13:277-285.
7. McGaha TL, Sorrentino B, Ravetch JV (2005) Restoration of tolerance in lupus by targeted inhibitory receptor expression. Science 307:590-593. (Pubitemid 40165683)
8. Brownlie RJ, et al. (2008) Distinct cell-specific control of autoimmunity and infection by FcgammaRIIb. J Exp Med 205:883-895.
9. Pritchard NR, et al. (2000) Autoimmune-prone mice share a promoter haplotype associated with reduced expression and function of the Fc receptor FcgammaRII. Curr Biol 10:227-230.
10. Jiang Y, et al. (2000) Polymorphisms in IgG Fc receptor IIB regulatory regions associated with autoimmune susceptibility. Immunogenetics 51:429-435. (Pubitemid 30265033)
11. Floto RA, et al. (2005) Loss of function of a lupus-associated FcgammaRIIb polymorphism through exclusion from lipid rafts. Nat Med 11:1056-1058.
12. Kono H, et al. (2005) FcgammaRIIB Ile232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreases affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling. Hum Mol Genet 14:2881-2892. (Pubitemid 41418793)
13. Chen JY, et al. (2006) Association of a transmembrane polymorphism of Fcgamma receptor IIb (FCGR2B) with systemic lupus erythematosus in Taiwanese patients. Arthritis Rheum 54:3908-3917.
14. Chu ZT, et al. (2004) Association of Fcgamma receptor IIb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: A common susceptibility gene in the Asian populations. Tissue Antigens 63:21-27.
15. Kyogoku C, et al. (2002) Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: Contribution of FCGR2B to genetic susceptibility. Arthritis Rheum 46:1242-1254. (Pubitemid 34525832)
16. Siriboonrit U, et al. (2003) Association of Fcgamma receptor IIb and IIIb polymorphisms with susceptibility to systemic lupus erythematosus in Thais. Tissue Antigens 61:374-383. (Pubitemid 36605670)
17. Magnusson V, et al. (2004) Polymorphisms of the Fc gamma receptor type IIB gene are not associated with systemic lupus erythematosus in the Swedish population. Arthritis Rheum 50:1348-1350. (Pubitemid 38480847)
18. Li X, et al. (2003) A novel polymorphism in the Fcgamma receptor IIB (CD32B) transmembrane region alters receptor signaling. Arthritis Rheum 48:3242-3252. (Pubitemid 37409339)
19. Clatworthy MR, et al. (2007) Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria. Proc Natl Acad Sci USA 104:7169-7174.
20. Kwiatkowski DP (2005) How malaria has affected the human genome and what human genetics can teach us about malaria. Am J Hum Genet 77:171-192.
21. Adjuik M, et al. (2006) Cause-specific mortality rates in sub-Saharan Africa and Bangladesh. Bull World Health Organ 84:181-188.
22. Blank MC, et al. (2005) Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus. Hum Genet 117:220-227.
23. Clatworthy MR, Smith KGC (2004) FcgammaRIIb balances efficient pathogen clearance and the cytokine-mediated consequences of sepsis. J Exp Med 199:717-723.
24. Kumaratilake LM, et al. (1995) A synthetic tumor necrosis factor-alpha agonist peptide enhances human polymorphonuclear leukocyte-mediated killing of Plasmodium falciparum in vitro and suppresses Plasmodium chabaudi infection in mice. J Clin Invest 95:2315-2323.
25. Li C, Langhorne J (2000) Tumor necrosis factor alpha p55 receptor is important for development of memory responses to blood-stage malaria infection. Infect Immun 68:5724-5730.
26. Muniz-Junqueira MI, dos Santos-Neto LL, Tosta CE (2001) Influence of tumor necrosis factor-alpha on the ability of monocytes and lymphocytes to destroy intraerythrocytic Plasmodium falciparum in vitro. Cell Immunol 208:73-79.
27. Rockett KA, Awburn MM, Cowden WB, Clark IA (1991) Killing of Plasmodium falciparum in vitro by nitric oxide derivatives. Infect Immun 59:3280-3283.
28. Anstey NM, et al. (1996) Nitric oxide in Tanzanian children with malaria: Inverse relationship between malaria severity and nitric oxide production/nitric oxide synthase type 2 expression. J Exp Med 184:557-567.
29. Grau GE, et al. (1989) Tumor necrosis factor and disease severity in children with falciparum malaria. N Engl J Med 320:1586-1591. (Pubitemid 19154572)
30. Butcher G (2008) Autoimmunity and malaria. Trends Parasitol 24:291-292.
31. Williams TN, et al. (2005) Sickle cell trait and the risk of Plasmodium falciparum malaria and other childhood diseases. J Infect Dis 192:178-186.
32. Williams TN, et al. (2005) Both heterozygous and homozygous alpha+ thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya. Blood 106:368-371.
33. Tan EM, et al. (1982) The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 25:1271-1277. (Pubitemid 13221242)
34. Cunninghame Graham DS, et al. (2008) Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 40:83-89.
35. Nyakeriga AM, et al. (2004) Iron deficiency and malaria among children living on the coast of Kenya. J Infect Dis 190:439-447. (Pubitemid 38982079)
36. Berkley JA, et al. (2005) Bacteremia among children admitted to a rural hospital in Kenya. N Engl J Med 352:39-47. (Pubitemid 40075679)
37. DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7: 177-188.