Mutations of complement lectin pathway genes MBL2 and MASP2 associated with placental malaria
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- 作者：Ville Holmberg (1) (2)
P?ivi Onkamo (3)
Elisa Lahtela (1)
P?ivi Lahermo (4)
George Bedu-Addo (5)
Frank P Mockenhaupt (6)
Seppo Meri (1) (7) - 关键词：Lectin pathway ; Mannose ; binding lectin ; MBL2 ; MASP2 ; Ficolin ; Complement ; Innate immunity ; Malaria ; Placenta ; Pregnancy
- 刊名：Malaria Journal
- 出版年：2012
- 出版时间：December 2012
- 年：2012
- 卷：11
- 期：1
- 全文大小：225KB
- 参考文献：1. Desai M, ter Kuile FO, Nosten F, McGready R, Asamoa K, Brabin B, Newman RD: Epidemiology and burden of malaria in pregnancy. / Lancet Infect Dis 2007, 7:93-04. CrossRef
2. Duffy PE: Plasmodium in the placenta: parasites, parity, protection, prevention and possibly preeclampsia. / Parasitology 2007, 134:1877-881. CrossRef
3. Dellicour S, Tatem AJ, Guerra CA, Snow RW, Ter Kuile FO: Quantifying the number of pregnancies at risk of malaria in 2007: a demographic study. / PLoS Med 2010, 7:e1000221. CrossRef
4. Fried M, Muga RO, Misore AO, Duffy PE: Malaria elicits type 1 cytokines in the human placenta: IFN-gamma and TNF-alpha associated with pregnancy outcomes. / J Immunol 1998, 160:2523-530.
5. Moormann AM, Sullivan AD, Rochford RA, Chensue SW, Bock PJ, Nyirenda T, Meshnick SR: Malaria and pregnancy: placental cytokine expression and its relationship to intrauterine growth retardation. / J Infect Dis 1999, 180:1987-993. CrossRef
6. Fried M, Nosten F, Brockman A, Brabin BJ, Duffy PE: Maternal antibodies block malaria. / Nature 1998, 395:851-52. CrossRef
7. Duffy PE, Fried M: Antibodies that inhibit Plasmodium falciparum adhesion to chondroitin sulfate A are associated with increased birth weight and the gestational age of newborns. / Infect Immun 2003, 71:6620-623. CrossRef
8. Brabin BJ, Romagosa C, Abdelgalil S, Menendez C, Verhoeff FH, McGready R, Fletcher KA, Owens S, D'Alessandro U, Nosten F, Fischer PR, Ordi J: The sick placenta-the role of malaria. / Placenta 2004, 25:359-78. CrossRef
9. Moormann AM: How might infant and paediatric immune responses influence malaria vaccine efficacy? / Parasite Immunol 2009, 31:547-59. CrossRef
10. Gowda DC: TLR-mediated cell signaling by malaria GPIs. / Trends Parasitol 2007, 23:596-04. CrossRef
11. Mockenhaupt FP, Hamann L, von Gaertner C, Bedu-Addo G, von Kleinsorgen C, Schumann RR, Bienzle U: Common polymorphisms of toll-like receptors 4 and 9 are associated with the clinical manifestation of malaria during pregnancy. / J Infect Dis 2006, 194:184-88. CrossRef
12. Hamann L, Bedu-Addo G, Eggelte TA, Schumann RR, Mockenhaupt FP: The toll-like receptor 1 variant S248N influences placental malaria. / Infect Genet Evol 2010, 10:785-89. CrossRef
13. Sikora M, Ferrer-Admetlla A, Laayouni H, Menendez C, Mayor A, Bardaji A, Sigauque B, Mandomando I, Alonso PL, Bertranpetit J, Casals F: A variant in the gene FUT9 is associated with susceptibility to placental malaria infection. / Hum Mol Genet 2009, 18:3136-144. CrossRef
14. Wallis R, Dodds AW, Mitchell DA, Sim RB, Reid KB, Schwaeble WJ: Molecular interactions between MASP-2, C4, and C2 and their activation fragments leading to complement activation via the lectin pathway. / J Biol Chem 2007, 282:7844-851. CrossRef
15. Thiel S: Complement activating soluble pattern recognition molecules with collagen-like regions, mannan-binding lectin, ficolins and associated proteins. / Mol Immunol 2007, 44:3875-888. CrossRef
16. Takahashi M, Ishida Y, Iwaki D, Kanno K, Suzuki T, Endo Y, Homma Y, Fujita T: Essential role of mannose-binding lectin-associated serine protease-1 in activation of the complement factor D. / J Exp Med 2010, 207:29-7. CrossRef
17. Klabunde J, Uhlemann AC, Tebo AE, Kimmel J, Schwarz RT, Kremsner PG, Kun JF: Recognition of Plasmodium falciparum proteins by mannan-binding lectin, a component of the human innate immune system. / Parasitol Res 2002, 88:113-17. CrossRef
18. Bellamy R, Ruwende C, McAdam KP, Thursz M, Sumiya M, Summerfield J, Gilbert SC, Corrah T, Kwiatkowski D, Whittle HC, Hill AV: Mannose binding protein deficiency is not associated with malaria, hepatitis B carriage nor tuberculosis in Africans. / QJM 1998, 91:13-8. CrossRef
19. Luty AJ, Kun JF, Kremsner PG: Mannose-binding lectin plasma levels and gene polymorphisms in Plasmodium falciparum malaria. / J Infect Dis 1998, 178:1221-224. CrossRef
20. Mombo LE, Ntoumi F, Bisseye C, Ossari S, Lu CY, Nagel RL, Krishnamoorthy R: Human genetic polymorphisms and asymptomatic Plasmodium falciparum malaria in Gabonese schoolchildren. / AmJTrop Med Hyg 2003, 68:186-90.
21. Boldt AB, Luty A, Grobusch MP, Dietz K, Dzeing A, Kombila M, Kremsner PG, Kun JF: Association of a new mannose-binding lectin variant with severe malaria in Gabonese children. / Genes Immun 2006, 7:393-00. CrossRef
22. Holmberg V, Schuster F, Dietz E, Sagarriga Visconti JC, Anemana SD, Bienzle U, Mockenhaupt FP: Mannose-binding lectin variant associated with severe malaria in young African children. / Microbes Infect 2008, 10:342-48. CrossRef
23. Thevenon AD, Leke RG, Suguitan AL Jr, Zhou JA, Taylor DW: Genetic polymorphisms of mannose-binding lectin do not influence placental malaria but are associated with preterm deliveries. / Infect Immun 2009, 77:1483-491. CrossRef
24. Mockenhaupt FP, Bedu-Addo G, von Gaertner C, Boye R, Fricke K, Hannibal I, Karakaya F, Schaller M, Ulmen U, Acquah PA, Dietz E, Eggelte TA, Bienzle U: Detection and clinical manifestation of placental malaria in southern Ghana. / Malar J 2006, 5:119. CrossRef
25. Snounou G, Viriyakosol S, Zhu XP, Jarra W, Pinheiro L, do Rosario VE, Thaithong S, Brown KN: High sensitivity of detection of human malaria parasites by the use of nested polymerase chain reaction. / Mol Biochem Parasitol 1993, 61:315-20. CrossRef
26. Finnstrom O: Studies on maturity in newborn infants. IX. Further observations on the use of external characteristics in estimating gestational age. / Acta Paediatr Scand 1977, 66:601-04. CrossRef
27. Silver KL, Higgins SJ, McDonald CR, Kain KC: Complement driven innate immune response to malaria: fuelling severe malarial diseases. / Cell Microbiol 2010, 12:1036-045. CrossRef
28. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. / Am J Hum Genet 2007, 81:559-75. CrossRef
29. Medepi.com, R Package for Epidemiological Data and Graphics [http://medepi.com/epitools/]
30. Thiel S, Kolev M, Degn S, Steffensen R, Hansen AG, Ruseva M, Jensenius JC: Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity. / J Immunol 2009, 182:2939-947. CrossRef
31. Timmann C, Evans JA, Konig IR, Kleensang A, Ruschendorf F, Lenzen J, Sievertsen J, Becker C, Enuameh Y, Kwakye KO, Opoku E, Browne EN, Ziegler A, Nurnberg P, Horstmann RD: Genome-wide linkage analysis of malaria infection intensity and mild disease. / PLoS Genet 2007, 3:e48. CrossRef
32. Jallow M, Teo YY, Small KS, Rockett KA, Deloukas P, Clark TG, Kivinen K, Bojang KA, Conway DJ, Pinder M, Sirugo G, Sisay-Joof F, Usen S, Auburn S, Bumpstead SJ, Campino S, Coffey A, Dunham A, Fry AE, Green A, Gwilliam R, Hunt SE, Inouye M, Jeffreys AE, Mendy A, Palotie A, Potter S, Ragoussis J, Rogers J, Rowlands K, Somaskantharajah E, Whittaker P, Widden C, Donnelly P, Howie B, Marchini J, Morris A, Sanjoaquin M, Achidi EA, Agbenyega T, Allen A, Amodu O, Corran P, Djimde A, Dolo A, Doumbo OK, Drakeley C, Dunstan S, Evans J, Farrar J, Fernando D, Hien TT, Horstmann RD, Ibrahim M, Karunaweera N, Kokwaro G, Koram KA, Lemnge M, Makani J, Marsh K, Michon P, Modiano D, Molyneux ME, Mueller I, Parker M, Peshu N, Plowe CV, Puijalon O, Reeder J, Reyburn H, Riley EM, Sakuntabhai A, Singhasivanon P, Sirima S, Tall A, Taylor TE, Thera M, Troye-Blomberg M, Williams TN, Wilson M, Kwiatkowski DP: Genome-wide and fine-resolution association analysis of malaria in West Africa. / Nat Genet 2009, 41:657-65. CrossRef
33. Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F: Complement in human diseases: lessons from complement deficiencies. / Mol Immunol 2009, 46:2774-783. CrossRef
34. Larsen F, Madsen HO, Sim RB, Koch C, Garred P: Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein. / J Biol Chem 2004, 279:21302-1311. CrossRef
35. Garred P, JS J, Quist L, Taaning E, Madsen HO: Association of mannose-binding lectin polymorphisms with sepsis and fatal outcome, in patients with systemic inflammatory response syndrome. / J Infect Dis 2003, 188:1394-403. CrossRef
36. National Center for Biotechnology Information, SNP rs12085877 [http://www.ncbi.nlm.nih.gov/snp/?term=rs12085877]
37. Jack DL, Turner MW: Anti-microbial activities of mannose-binding lectin. / Biochem Soc Trans 2003, 31:753-57. CrossRef
38. Krarup A, Wallis R, Presanis JS, Gal P, Sim RB: Simultaneous activation of complement and coagulation by MBL-associated serine protease 2. / PLoS One 2007, 2:e623. CrossRef
39. Conroy A, Serghides L, Finney C, Owino SO, Kumar S, Gowda DC, Liles WC, Moore JM, Kain KC: C5a enhances dysregulated inflammatory and angiogenic responses to malaria in vitro: potential implications for placental malaria. / PLoS One 2009, 4:e4953. CrossRef
40. Conroy AL, McDonald CR, Silver KL, Liles WC, Kain KC: Complement activation: a critical mediator of adverse fetal outcomes in placental malaria? / Trends Parasitol 2011, 27:294-99. CrossRef
41. Ward PA: The dark side of C5a in sepsis. / Nat Rev Immunol 2004, 4:133-42. CrossRef
42. Cockburn IA, Mackinnon MJ, O'Donnell A, Allen SJ, Moulds JM, Baisor M, Bockarie M, Reeder JC, Rowe JA: A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria. / Proc Natl Acad Sci USA 2004, 101:272-77. CrossRef
43. Harboe M, Garred P, Karlstrom E, Lindstad JK, Stahl GL, Mollnes TE: The down-stream effects of mannan-induced lectin complement pathway activation depend quantitatively on alternative pathway amplification. / Mol Immunol 2009, 47:373-80. CrossRef
44. Kocsis A, Kekesi KA, Szasz R, Vegh BM, Balczer J, Dobo J, Zavodszky P, Gal P, Pal G: Selective inhibition of the lectin pathway of complement with phage display selected peptides against mannose-binding lectin-associated serine protease (MASP)-1 and -2: significant contribution of MASP-1 to lectin pathway activation. / J Immunol 2010, 185:4169-178. CrossRef - 作者单位：Ville Holmberg (1) (2)
P?ivi Onkamo (3)
Elisa Lahtela (1)
P?ivi Lahermo (4)
George Bedu-Addo (5)
Frank P Mockenhaupt (6)
Seppo Meri (1) (7)
1. Department of Bacteriology and Immunology, Infection Biology Programme, Haartman Institute, University of Helsinki, P.O. Box 21, 00014, Helsinki, Finland
2. Division of Infectious Diseases, Department of Medicine, Helsinki University Central Hospital, P.O. Box 340, 00029, HUS Helsinki, Finland
3. Department of Biosciences, University of Helsinki, P.O.Box 56, 00014, Helsinki, Finland
4. FIMM Technology Centre, University of Helsinki, P.O. Box 20, 00014, Helsinki, Finland
5. Komfo Anokye Teaching Hospital, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana
6. Institute of Tropical Medicine and International Health, Charité-University Medical Center, Spandauer Damm 130, 14050, Berlin, Germany
7. HUSLAB, Helsinki University Central Hospital, Helsinki, Finland
文摘
Background Innate immunity plays a crucial role in the host defense against malaria including Plasmodium falciparum malaria in pregnancy, but the roles of the various underlying genes and mechanisms predisposing to the disease are poorly understood. Methods 98 single-nucletoide polymorphisms were genotyped in a set of 17 functionally related genes of the complement system in 145 primiparous Ghanaian women with placental malaria, defined by placental parasitaemia or malaria pigment, and as a control, in 124 non-affected primiparae. Results Placental malaria was significantly associated with SNPs in the lectin pathway genes MBL2, MASP2, FCN2 and in properdin. In particular, the main African mannose-binding lectin deficiency variant (MBL2*G57E, rs1800451) increased the odds of placental malaria (OR 1.6; permuted p-value 0.014). In contrast, a common MASP2 mutation (R439H, rs12085877), which reduces the activity of MBL-MASP2 complexes occurred in 33% of non-affected women and in 22% primiparae with placental malaria (OR 0.55, permuted p-value 0.020). Conclusions Excessive complement activation is of importance in the pathogenesis of placental malaria by mediating inflammation, coagulation, and endothelial dysfunction. Mutated MBL and MASP2 proteins could have direct intrinsic effects on the susceptibility to placental malaria, in addition to their roles in regulation of downstream complement activation.