Parasite-host interaction in malaria: Genetic clues and copy number variation

Genome Medicine

Volumn 1, Issue 9, 2009, Pages

  Faik, Imad ^a   De Carvalho, Elisandra Grangeiro ^a   Kun, Jürgen F J ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3B RECEPTOR; CYTOCHROME P450 2A6; DIHYDROFOLATE REDUCTASE; GLYCOPHORIN C; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HLA ANTIGEN; IMMUNOGLOBULIN FC FRAGMENT; INTERCELLULAR ADHESION MOLECULE 1; MANNOSE BINDING LECTIN; MULTIDRUG RESISTANCE PROTEIN 1;

GENE DUPLICATION; GENE EXPRESSION PROFILING; GENE NUMBER; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOST PARASITE INTERACTION; MALARIA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 76749165574     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm82     Document Type: Review

References (66)

1. Ollomo B, Durand P, Prugnolle F, Douzery E, Arnathau C, Nkoghe D, Leroy E, Renaud F: A new malaria agent in African hominids. PLoS Pathog 2009, 5:e1000446.
2. World Health Organization. The World Health Report. Geneva: World Health Organization; 1999-2004.
3. Sachs J, Malaney P: The economic and social burden of malaria. Nature 2002, 415:680-685.
4. Singh B, Kim SL, Matusop A, Radhakrishnan A, Shamsul SS, Cox-Singh J, Thomas A, Conway DJ: A large focus of natu-rally acquired Plasmodium knowlesi infections in human beings. Lancet 2004, 363:1017-1024.
5. Serjeant GR. Sickle Cell Disease. Oxford: Oxford Medical Publications, 1992.
6. Mackinnon MJ, Mwangi TW, Snow RW, Marsh K, Williams TN: Heritability of malaria in Africa. PLoS Med 2005, 2:e340.
7. Salisbury BA, Pungliya M, Choi JY, Jiang R, Sun XJ, Stephens JC: SNP and haplotype variation in the human genome. Mutat Res 2003, 526:53-61.
8. Greenwood BM, Marsh K, Snow RW: Why do some African children develop severe malaria? Parasitol Today 1991, 7: 277-281.
9. Jepson A, Sisay-Joof F, Banya W, Hassan-King M, Frodsham A, Bennett S, Hill AV, Whittle H: Genetic linkage of mild malaria to the major histocompatibility complex in Gambian children: study of affected sibling pairs. BMJ 1997, 315:96-97.
10. Mackinnon MJ, Gunawardena DM, Rajakaruna J, Weerasingha S, Mendis KN, Carter R: Quantifying genetic and nongenetic contributions to malarial infection in a Sri Lankan popula-tion. Proc Natl Acad Sci U S A 2000, 97:12661-12666.
11. Garcia A, Marquet S, Bucheton B, Hillaire D, Cot M, Fievet N, Dessein AJ, Abel L: Linkage analysis of blood Plasmodium falciparum levels: interest of the 5q31-q33 chromosome region. Am J Trop Med Hyg 1998, 58:705-709.
12. Rihet P, Traore Y, Abel L, Aucan C, Traore LT, Fumoux F: Malaria in humans: Plasmodium falciparum blood infec-tion levels are linked to chromosome 5q31-q33. Am J Hum Genet 1998, 63:498-505.
13. Sjoberg K, Lepers JP, Raharimalala L, Larsson A, Olerup O, Marbiah NT, Troye-Blomberg M, Perlmann P: Genetic regula-tion of human anti-malarial antibodies in twins. Proc Natl Acad Sci U S A 1992, 89:2101-2104.
14. Fernandez-Reyes D, Craig AG, Kyes SA, Peshu N, Snow RW, Berendt AR, Marsh K, Newbold CI: A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya. Hum Mol Genet 1997, 6:1357-1360.
15. Kun JFJ, Klabunde J, Lell B, Luckner D, Alpers M, May J, Meyer CG, Kremsner PG: Association of the Icam-1Kilifi mutation with protection against severe malaria in Lambaréné, Gabon. Am J Trop Med Hyg 1999, 61:776-779.
16. Fry AE, Auburn S, Diakite M, Green A, Richardson A, Wilson J, Jallow M, Sisay-Joof F, Pinder M, Griffiths MJ, Peshu N, Williams TN, Marsh K, Molyneux ME, Taylor TE, Rockett KA, Kwiatkowski DP: Variation in the ICAM1 gene is not associ-ated with severe malaria phenotypes. Genes Immun 2008, 9: 462-469.
17. Rowe A, Obeiro J, Newbold CI, Marsh K: Plasmodium falci-parum rosetting is associated with malaria severity in Kenya. Infect Immun 1995, 63:2323-2326.
18. Rowe JA, Moulds JM, Newbold CI, Miller LH: P. falciparum rosetting mediated by a parasite-variant erythrocyte mem-brane protein and complement-receptor 1. Nature 1997, 388: 292-295.
19. Kun JFJ, Schmidt-Ott R, Lehman LG, Lell B, Luckner D, Greve B, Matousek P, Kremsner PG: Merozoite surface antigen 1 and 2 genotyping and rosetting of Plasmodium falciparum in severe versus mild malaria in Lambaréné, Gabon. Trans R Soc Trop Med Hyg 1998, 92:110-114.
20. al Yaman F, Genton B, Mokela D, Raiko A, Kati S, Rogerson S, Reeder J, Alpers M: Human cerebral malaria: lack of signifi-cant association between erythrocyte rosetting and disease severity. Trans R Soc Trop Med Hyg 1995, 89:55-58.
21. Angkasekwinai P, Looareesuwan S, Chaiyaroj SC: Lack of significant association between rosette formation and par-asitized erythrocyte adherence to purified CD36. Southeast Asian J Trop Med Public Health 1998, 29:41-45.
22. 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 U S A 2004, 101: 272-277.
23. Rowe JA, Handel IG, Thera MA, Deans AM, Lyke KE, Kone A, Diallo DA, Raza A, Kai O, Marsh K, Plowe CV, Doumbo OK, Moulds JM: Blood group O protects against severe Plasmodium falciparum malaria through the mechanism of reduced rosetting. Proc Natl Acad Sci U S A 2007, 104: 17471-17476.
24. Patel SS, Mehlotra RK, Kastens W, Mgone CS, Kazura JW, Zimmerman PA: The association of the glycophorin C exon 3 deletion with ovalocytosis and malaria susceptibility in the Wosera, Papua New Guinea. Blood 2001, 98:3489-3491.
25. Maier AG, Duraisingh MT, Reeder JC, Patel SS, Kazura JW, Zimmerman PA, Cowman AF: Plasmodium falciparum eryth-rocyte invasion through glycophorin C and selection for Gerbich negativity in human populations. Nat Med 2003, 9: 87-92.
26. Turner MW: Mannose-binding lectin: the pluripotent mole-cule of the innate immune system. Immunol Today 1996, 17: 532-540.
27. Klabunde J, Berger J, Jensenius JC, Klinkert M, Zelck U, Kremsner PG, Kun JFJ: Schistosoma mansoni: Adhesion of mannan-binding lectin to surface glycoproteins of cercar-iae and adult worms. Exp Parasitol 2000, 95:231-239.
28. Garred P, Nielsen MA, Kurtzhals JA, Malhotra R, Madsen HO, Goka BQ, Akanmori BD, Sim RB, Hviid L: Mannose-binding lectin is a disease modifier in clinical malaria and may function as opsonin for Plasmodium falciparum-infected erythrocytes. Infect Immun 2003, 71:5245-5253.
29. Luty AJF, Kun JFJ, Kremsner PG: Mannose-binding lectin plasma levels and gene polymorphisms in Plasmodium fal-ciparum malaria. J Infect Dis 1998, 178:1221-1224.
30. Boldt AB, Luty A, Grobusch MP, Dietz K, Dzeing A, Kombila M, Kremsner PG, Kun JF: Association of a new mannose-bind-ing lectin variant with severe malaria in Gabonese chil-dren. Genes Immun 2006, 7:393-400.
31. Boldt AB, Messias-Reason IJ, Lell B, Issifou S, Pedroso ML, Kremsner PG, Kun JF: Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection. Malar J 2009, 8:97.
32. Klabunde J, Uhlemann AC, Tebo AE, Kimmel J, Schwarz RT, Kremsner PG, Kun JF: Recognition of plasmodium falci-parum proteins by mannan-binding lectin, a component of the human innate immune system. Parasitol Res 2002, 88: 113-117.
33. Bellamy R, Ruwende C, McAdam KPWJ, Thursz M, Sumiya M, Summerfield J, Gilbert SC, Corrah T, Kwiatkowski D, Whittle HC, Hill AVS: Mannose binding protein deficiency is not associated with malaria, hepatitis B carriage nor tubercu-losis in Africans. Q J Med 1998, 91:13-18.
34. Manolio TA, Collins FS: The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med 2009, 60:443-456.
35. Bellamy R, Beyers N, McAdam KP, Ruwende C, Gie R, Samaai P, Bester D, Meyer M, Corrah T, Collin M, Camidge DR, Wilkinson D, Hoal-Van Helden E, Whittle HC, Amos W, van Helden P, Hill AV: Genetic susceptibility to tuberculosis in Africans: a genome-wide scan. Proc Natl Acad Sci U S A 2000, 97:8005-8009.
36. Marquet S, Abel L, Hillaire D, Dessein H, Kalil J, Feingold J, Weissenbach J, Dessein AJ: Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet 1996, 14: 181-184.
37. Fellay J, Shianna KV, Ge D, Colombo S, Ledergerber B, Weale M, Zhang K, Gumbs C, Castagna A, Cossarizza A, Cozzi-Lepri A, De Luca A, Easterbrook P, Francioli P, Mallal S, Martinez-Picado J, Miro JM, Obel N, Smith JP, Wyniger J, Descombes P, Antonarakis SE, Letvin NL, McMichael AJ, Haynes BF, Telenti A, Goldstein DB: A whole-genome association study of major determinants for host control of HIV-1. Science 2007, 317: 944-947.
38. Timmann C, Evans JA, König IR, Kleensang A, Rüschendorf F, Lenzen J, Sievertsen J, Becker C, Enuameh Y, Kwakye KO, Opoku E, Browne ENL, Ziegler A, Nürnberg P, Horstmann RD: Genome-wide linkage analysis of malaria infection inten-sity and mild disease. PLoS Genet 2007, 3:e48.
39. 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, et al.: Genome-wide and fine-resolu-tion association analysis of malaria in West Africa. Nat Genet 2009; 24 May epub ahead of print.
40. Feuk L, Carson AR, Scherer SW: Structural variation in the human genome. Nat Rev Genet 2006, 7:85-97.
41. Lupski JR: Genomic disorders ten years on. Genome Med 2009, 1:42.
42. Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tuzun E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, et al.: Mapping and sequenc-ing of structural variation from eight human genomes. Nature 2008, 453:56-64.
43. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, et al.: Global variation in copy number in the human genome. Nature 2006, 444:444-454.
44. Omi K, Ohashi J, Patarapotikul J, Hananantachai H, Naka I, Looareesuwan S, Tokunaga K: Fcgamma receptor IIA and IIIB polymorphisms are associated with susceptibility to cerebral malaria. Parasitol Int 2002, 51:361-366.
45. Verra F, Mangano VD, Modiano D: Genetics of susceptibility to Plasmodium falciparum: from classical malaria resist-ance genes towards genome-wide association studies. Parasite Immunol 2009, 31:234-253.
46. Hill AV, Allsopp CE, Kwiatkowski D, Anstey NM, Twumasi P, Rowe PA, Bennett S, Brewster D, McMichael AJ, Greenwood BM: Common west African HLA antigens are associated with protection from severe malaria. Nature 1991, 352:595-600.
47. Rao Y, Hoffmann E, Zia M, Bodin L, Zeman M, Sellers EM, Tyndale RF: Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking. Mol Pharmacol 2000, 58:747-755.
48. Fukami T, Nakajima M, Yamanaka H, Fukushima Y, Mcleod HL, Yokoi T: A novel duplication type of CYP2A6 gene in African-American population. Drug Metab Dispos 2007, 35: 515-520.
49. Price RN, Uhlemann AC, van Vugt M, Brockman A, Hutagalung R, Nair S, Nash D, Singhasivanon P, Anderson TJ, Krishna S, White NJ, Nosten F: Molecular and pharmacological deter-minants of the therapeutic response to artemether-lume-fantrine in multidrug-resistant Plasmodium falciparum malaria. Clin Infect Dis 2006, 42:1570-1577.
50. Uhlemann AC, McGready R, Ashley EA, Brockman A, Singhasivanon P, Krishna S, White NJ, Nosten F, Price RN: Intrahost selection of Plasmodium falciparum pfmdr1 alleles after antimalarial treatment on the northwestern border of Thailand. J Infect Dis 2007, 195:134-141.
51. Uhlemann AC, Krishna S: Antimalarial multi-drug resistance in Asia: mechanisms and assessment. Curr Top Microbiol Immunol 2005, 295:39-53.
52. Sidhu A, Uhlemann A, Valderramos S, Valderramos J, Krishna S, Fidock D: Decreasing pfmdr1 copy number in Plasmodium falciparum malaria heightens susceptibility to mefloquine, lumefantrine, halofantrine, quinine, and artem-isinin. J Infect Dis 2006, 194:528-535.
53. Kidgell C, Volkman SK, Daily J, Borevitz JO, Plouffe D, Zhou Y, Johnson JR, Le Roch K, Sarr O, Ndir O, Mboup S, Batalov S, Wirth DF, Winzeler EA: A systematic map of genetic varia-tion in Plasmodium falciparum. PLoS Pathog 2006, 2:e57.
54. Nair S, Miller B, Barends M, Jaidee A, Patel J, Mayxay M, Newton P, Nosten F, Ferdig MT, Anderson TJC: Adaptive copy number evolution in malaria parasites. PLoS Genet 2008, 4: e1000243.
55. Foote SJ, Thompson JK, Cowman AF, Kemp DJ: Amplification of the multidrug resistance gene in some chloroquine-resistant isolates of P. falciparum. Cell 1989, 57:921-930.
56. Fidock DA, Nomura T, Talley AK, Cooper RA, Dzekunov SM, Ferdig MT, Ursos LM, Sidhu AB, Naude B, Deitsch KW, Su XZ, Wootton JC, Roepe PD, Wellems TE: Mutations in the P. fal -ciparum digestive vacuole transmembrane protein PfCRT and evidence for their role in chloroquine resistance. Mol Cell 2000, 6:861-871.
57. Djimde A, Doumbo OK, Cortese JF, Kayentao K, Doumbo S, Diourte Y, Dicko A, Su XZ, Nomura T, Fidock DA, Wellems TE, Plowe CV, Coulibaly D: A molecular marker for chloroquine-resistant falciparum malaria. N Engl J Med 2001, 344:257-263.
58. Jiang H, Patel JJ, Yi M, Mu J, Ding J, Stephens R, Cooper RA, Ferdig MT, Su Xz: Genome-wide compensatory changes accompany drug- selected mutations in the Plasmodium falciparum gene. PLoS ONE 2008, 3:e2484.
59. Ribacke U, Mok BW, Wirta V, Normark J, Lundeberg J, Kironde F, Egwang TG, Nilsson P, Wahlgren M: Genome wide gene amplifications and deletions in Plasmodium falciparum. Mol Biochem Parasitol 2007, 155:33-44.
60. Winter G, Kawai S, Haeggstrom M, Kaneko O, von Euler A, Kawazu S, Palm D, Fernandez V, Wahlgren M: SURFIN is a polymorphic antigen expressed on Plasmodium falci-parum merozoites and infected erythrocytes. J Exp Med 2005, 201:1853-1863.
61. Mphande F, Ribacke U, Kaneko O, Kironde F, Winter G, Wahlgren M: SURFIN4.1, a schizont-merozoite associated protein in the SURFIN family of Plasmodium falciparum. Malar J 2008, 7:116.
62. Noedl H, Se Y, Schaecher K, Smith BL, Socheat D, Fukuda MM: Evidence of artemisinin-resistant malaria in western Cambodia. N Engl J Med 2008, 359:2619-2620.
63. Dondorp AM, Nosten F, Yi P, Das D, Phyo AP, Tarning J, Lwin KM, Ariey F, Hanpithakpong W, Lee SJ, Ringwald P, Silamut K, Imwong M, Chotivanich K, Lim P, Herdman T, An SS, Yeung S, Singhasivanon P, Day NPJ, Lindegardh N, Socheat D, White NJ: Artemisinin resistance in Plasmodium falciparum malaria. N Engl J Med 2009, 361:455-467.
64. Gupta K, Gupta RK, Hajela K: Disease associations of man-nose-binding lectin & potential of replacement therapy. Indian J Med Res 2008, 127:431-440.
65. Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, et al.: An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 2009, 360:2426-2437.
66. Fullwood MJ, Wei CL, Liu ET, Ruan Y: Next-generation DNA sequencing of paired-end tags (PET) for transcriptome and genome analyses. Genome Res 2009, 19:521-532.