Polymorphic variability in the 3' untranslated region (UTR) of IL12B is associated with susceptibility to severe anaemia in Kenyan children with acute Plasmodium falciparum malaria

BMC Genetics

Volumn 12, Issue , 2011, Pages

  Ong'echa, John M ^a,b   Raballah, Evans O ^a,c   Kempaiah, Prakasha M ^b   Anyona, Samuel B ^a   Were, Tom ^a   Davenport, Gregory C ^b   Konah, Stephen ^a   Vulule, John M ^d   Ouma, Collins ^a   Hittner, James B ^e   Perkins, Douglas J ^a,b  

^a UNIVERSITY OF NEW MEXICO   (United States)

^b UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^c KENYATTA UNIVERSITY   (Kenya)

^d KENYA MEDICAL RESEARCH INSTITUTE   (Kenya)

^e School of Business   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 12P40; INTERLEUKIN 12P70; IL12B PROTEIN, HUMAN;

3' UNTRANSLATED REGION; ALLELE; ANEMIA; ARTICLE; CYTOKINE PRODUCTION; DISEASE SEVERITY; FEMALE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFANT; INNATE IMMUNITY; KENYA; MAJOR CLINICAL STUDY; MALARIA FALCIPARUM; MALE; MULTIVARIATE LOGISTIC REGRESSION ANALYSIS; PLASMODIUM FALCIPARUM; SEVERE MALARIAL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; CHILD; GENETIC PREDISPOSITION; GENETICS; LONGITUDINAL STUDY; MORTALITY; PRESCHOOL CHILD;

PLASMODIUM FALCIPARUM;

3' UNTRANSLATED REGIONS; ANEMIA; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INTERLEUKIN-12 SUBUNIT P40; KENYA; LONGITUDINAL STUDIES; MALARIA, FALCIPARUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79961106971     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/1471-2156-12-69     Document Type: Article

References (41)

1. WHO World malaria report 2008. WHO/HTM/GMP/2008.1 2008, WHO., http://www.who.int/malaria/wmr2008/malaria2008.pdf
2. Bloland PB, Ruebush TK, McCormick JB, Roberts JM, Oloo AJ, Hawley W, Lal A, Nahlen B, Campbell CC. Longitudinal cohort study of the epidemiology of malaria infections in an area of intense malaria transmission I. Description of study site, general methodology, and study population. Am J Trop Med Hyg 1999, 60:635-640.
3. Ekvall H, Premji Z, Bennett S, Bjorkman A. Hemoglobin concentration in children in a malaria holoendemic area is determined by cumulated Plasmodium falciparum parasite densities. Am J Trop Med Hyg 2001, 64:58-66.
4. McElroy PD, Lal AA, Hawley WA, Bloland PB, Kuile FO, Oloo AJ, Harlow SD, Lin X, Nahlen BL. Analysis of repeated hemoglobin measures in full-term, normal birth weight Kenyan children between birth and four years of age. III. The Asembo Bay Cohort Project. Am J Trop Med Hyg 1999, 61:932-940.
5. Kobayashi M, Fitz L, Ryan M, Hewick RM, Clark SC, Chan S, Loudon R, Sherman F, Perussia B, Trinchieri G. Identification and purification of natural killer cell stimulatory factor (NKSF), a cytokine with multiple biologic effects on human lymphocytes. J Exp Med 1989, 170:827-845. 10.1084/jem.170.3.827, 2189443, 2504877.
6. D'Andrea A, Rengaraju M, Valiante NM, Chehimi J, Kubin M, Aste M, Chan SH, Kobayashi M, Young D, Nickbarg E, Chizzonite R, Wolf SF, Trinchieri G. Production of natural killer cell stimulatory factor (interleukin 12) by peripheral blood mononuclear cells. J Exp Med 1992, 176:1387-1398. 10.1084/jem.176.5.1387, 2119437, 1357073.
7. Hoffman SL, Crutcher JM, Puri SK, Ansari AA, Villinger F, Franke ED, Singh PP, Finkelman F, Gately MK, Dutta GP, Sedegah M. Sterile protection of monkeys against malaria after administration of interleukin-12. Nat Med 1997, 3:80-83. 10.1038/nm0197-80, 8986746.
8. Luty AJ, Perkins DJ, Lell B, Schmidt-Ott R, Lehman LG, Luckner D, Greve B, Matousek P, Herbich K, Schmid D, Weinberg JB, Kremsner PG. Low interleukin-12 activity in severe Plasmodium falciparum malaria. Infect Immun 2000, 68:3909-3915. 10.1128/IAI.68.7.3909-3915.2000, 101666, 10858202.
9. Keller CC, Yamo O, Ouma C, Ong'echa JM, Ounah D, Hittner JB, Vulule JM, Perkins DJ. Acquisition of hemozoin by monocytes down-regulates interleukin-12 p40 (IL-12p40) transcripts and circulating IL-12p70 through an IL-10-dependent mechanism: in vivo and in vitro findings in severe malarial anemia. Infect Immun 2006, 74:5249-5260. 10.1128/IAI.00843-06, 1594872, 16926419.
10. Mohan K, Stevenson MM. Dyserythropoiesis and severe anaemia associated with malaria correlate with deficient interleukin-12 production. Br J Haematol 1998, 103:942-949. 10.1046/j.1365-2141.1998.01126.x, 9886304.
11. Sieburth D, Jabs EW, Warrington JA, Li X, Lasota J, LaForgia S, Kelleher K, Huebner K, Wasmuth JJ, Wolf SF. Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5. Genomics 1992, 14:59-62. 10.1016/S0888-7543(05)80283-6, 1358798.
12. Huang D, Cancilla MR, Morahan G. Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit. Genes Immun 2000, 1:515-520. 10.1038/sj.gene.6363720, 11197695.
13. Seegers D, Zwiers A, Strober W, Pena AS, Bouma G. A TaqI polymorphism in the 3'UTR of the IL-12 p40 gene correlates with increased IL-12 secretion. Genes Immun 2002, 3:419-423. 10.1038/sj.gene.6363919, 12424624.
14. Morahan G, Boutlis CS, Huang D, Pain A, Saunders JR, Hobbs MR, Granger DL, Weinberg JB, Peshu N, Mwaikambo ED, Marsh K, Roberts DJ, Anstey NM. A promoter polymorphism in the gene encoding interleukin-12 p40 (IL12B) is associated with mortality from cerebral malaria and with reduced nitric oxide production. Genes Immun 2002, 3:414-418. 10.1038/sj.gene.6363909, 12424623.
15. Marquet S, Doumbo O, Cabantous S, Poudiougou B, Argiro L, Safeukui I, Konate S, Sissoko S, Chevereau E, Traore A, Keita MM, Chevillard C, Abel L, Dessein AJ. A functional promoter variant in IL12B predisposes to cerebral malaria. Hum Mol Genet 2008, 17:2190-2195. 10.1093/hmg/ddn118, 18413324.
16. Tsunemi Y, Saeki H, Nakamura K, Sekiya T, Hirai K, Fujita H, Asano N, Kishimoto M, Tanida Y, Kakinuma T, Mitsui H, Tada Y, Wakugawa M, Torii H, Komine M, Asahina A, Tamaki K. Interleukin-12 p40 gene (IL12B) 3'-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris. J Dermatol Sci 2002, 30:161-166. 10.1016/S0923-1811(02)00072-5, 12413772.
17. Windsor L, Morahan G, Huang D, McCann V, Jones T, James I, Christiansen FT, Price P. Alleles of the IL12B 3'UTR associate with late onset of type 1 diabetes. Hum Immunol 2004, 65:1432-1436. 10.1016/j.humimm.2004.09.001, 15603869.
18. Alifirova VM, Orlova I, Babenko SA, Rudko AA, Puzyrev VP. The 1188 A/C ILI2B gene polymorphism in patients with multiple sclerosis and in healthy subjects of Tomsk region. Zh Nevrol Psikhiatr Im S S Korsakova Spec 2006, 3:130-135.
19. Shokrgozar MA, Sarial S, Amirzargar A, Shokri F, Rezaei N, Arjang Z, Radfar J, Yousefi-Behzadi M, Ali Sahraian M, Lotfi J. IL-2, IFN-gamma, and IL-12 gene polymorphisms and susceptibility to multiple sclerosis. J Clin Immunol 2009, 29:747-751. 10.1007/s10875-009-9310-z, 19543959.
20. Alvarado-Navarro A, Montoya-Buelna M, Munoz-Valle JF, Lopez-Roa RI, Guillen-Vargas C, Fafutis-Morris M. The 3'UTR 1188 A/C polymorphism in the interleukin-12p40 gene (IL-12B) is associated with lepromatous leprosy in the west of Mexico. Immunol Lett 2008, 118:148-151. 10.1016/j.imlet.2008.03.015, 18485489.
21. Zafra G, Morillo C, Martin J, Gonzalez A, Gonzalez CI. Polymorphism in the 3' UTR of the IL12B gene is associated with Chagas' disease cardiomyopathy. Microbes Infect 2007, 9:1049-1052. 10.1016/j.micinf.2007.04.010, 17644387.
22. Stanilova S, Miteva L. Taq-I polymorphism in 3'UTR of the IL-12B and association with IL-12p40 production from human PBMC. Genes Immun 2005, 6:364-366. 10.1038/sj.gene.6364213, 15858599.
23. Phawong C, Ouma C, Tangteerawatana P, Thongshoob J, Were T, Mahakunkijcharoen Y, Wattanasirichaigoon D, Perkins DJ, Khusmith S. Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults. Immunogenetics 2010, 62:345-356. 10.1007/s00251-010-0439-y, 3057425, 20387064.
24. Zhang L, Prather D, Vanden Eng J, Crawford S, Kariuki S, ter Kuile F, Terlouw D, Nahlen B, Lal AA, Slutsker L, Udhayakumar V, Shi YP. Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya. Malar J 2010, 9:87. 2858737, 20350312.
25. Ong'echa JM, Keller CC, Were T, Ouma C, Otieno RO, Landis-Lewis Z, Ochiel D, Slingluff JL, Mogere S, Ogonji GA, Orago AS, Vulule JM, Kaplan SS, Day RD, Perkins DJ. Parasitemia, anaemia, and malarial anaemia in infants and young children in a rural holoendemic Plasmodium falciparum transmission area. Am J Trop Med Hyg 2006, 74:376-385.
26. WHO Severe falciparum malaria. Trans R Soc Trop Med Hyg 2000, 94:1-90. WHO.
27. Otieno RO, Ouma C, Ong'echa JM, Keller CC, Were T, Waindi EN, Michaels MG, Day RD, Vulule JM, Perkins DJ. Increased severe anaemia in HIV-1-exposed and HIV-1-positive infants and children during acute malaria. AIDS 2006, 20:275-280. 10.1097/01.aids.0000200533.56490.b7, 16511422.
28. Were T, Davenport GC, Hittner JB, Ouma C, Vulule JM, Ong'echa JM, Perkins DJ. Bacteremia in Kenyan children presenting with malaria. J Clin Microbiol 2011, 49:671-676. 10.1128/JCM.01864-10, 3043473, 21106789.
29. Berkley J, Mwarumba S, Bramham K, Lowe B, Marsh K. Bacteraemia complicating severe malaria in children. Trans R Soc Trop Med Hyg 1999, 93:283-286. 10.1016/S0035-9203(99)90024-X, 10492760.
30. Aidoo M, Terlouw DJ, Kolczak MS, McElroy PD, ter Kuile FO, Kariuki S, Nahlen BL, Lal AA, Udhayakumar V. Protective effects of the sickle cell gene against malaria morbidity and mortality. Lancet 2002, 359:1311-1312. 10.1016/S0140-6736(02)08273-9, 11965279.
31. Gately MK, Renzetti LM, Magram J, Stern AS, Adorini L, Gubler U, Presky DH. The interleukin-12/interleukin-12-receptor system: role in normal and pathologic immune responses. Annu Rev Immunol 1998, 16:495-521. 10.1146/annurev.immunol.16.1.495, 9597139.
32. Crutcher JM, Stevenson MM, Sedegah M, Hoffman SL. Interleukin-12 and malaria. Res Immunol 1995, 146:552-559. 10.1016/0923-2494(96)83031-8, 8839161.
33. Su Z, Stevenson MM. IL-12 is required for antibody-mediated protective immunity against blood-stage Plasmodium chabaudi AS malaria infection in mice. J Immunol 2012, 168:1348-1355.
34. Perkins DJ, Weinberg JB, Kremsner PG. Reduced interleukin-12 and transforming growth factor-beta1 in severe childhood malaria: relationship of cytokine balance with disease severity. J Infect Dis 2000, 182:988-992. 10.1086/315762, 10950804.
35. Kuersten S, Goodwin EB. The power of the 3' UTR: translational control and development. Nat Rev Genet 2003, 4:626-637. 10.1038/nrg1125, 12897774.
36. Yilmaz V, Yentur SP, Saruhan-Direskeneli G. IL-12 and IL-10 polymorphisms and their effects on cytokine production. Cytokine 2005, 30:188-194. 10.1016/j.cyto.2005.01.006, 15863393.
37. Peng JC, Abu Bakar S, Richardson MM, Jonsson JJ, Frazer IH, Nielsen LK, Morahan G, Thomas R. IL10 and IL12B polymorphisms each influence IL-12p70 secretion by dendritic cells in response to LPS. Immunol Cell Biol 2006, 84:227-232. 10.1111/j.1440-1711.2006.01419.x, 16519741.
38. Stevenson MM, Tam MF, Wolf SF, Sher A. IL-12-induced protection against blood-stage Plasmodium chabaudi AS requires IFN-gamma and TNF-alpha and occurs via a nitric oxide-dependent mechanism. J Immunol 1995, 155:2545-2556.
39. Ouma C, Davenport GC, Awandare GA, Keller CC, Were T, Otieno MF, Vulule JM, Martinson J, Ong'echa JM, Ferrell RE, Perkins DJ. Polymorphic variability in the interleukin (IL)-1beta promoter conditions susceptibility to severe malarial anaemia and functional changes in IL-1beta production. J Infect Dis 2008, 198:1219-1226. 10.1086/592055, 2723855, 18781863.
40. Ouma C, Davenport GC, Were T, Otieno MF, Hittner JB, Vulule JM, Martinson J, Ong'echa JM, Ferrell RE, Perkins DJ. Haplotypes of IL-10 promoter variants are associated with susceptibility to severe malarial anaemia and functional changes in IL-10 production. Hum Genet 2008, 124:515-524. 10.1007/s00439-008-0578-5, 2723852, 18972133.
41. Awandare GA, Martinson JJ, Were T, Ouma C, Davenport GC, Ong'echa JM, Wang W, Leng L, Ferrell RE, Bucala R, Perkins DJ. MIF (macrophage migration inhibitory factor) promoter polymorphisms and susceptibility to severe malarial anaemia. J Infect Dis 2009, 200:629-637. 10.1086/600894, 19591577.