Association of the endothelial protein C receptor (PROCR) rs867186-G allele with protection from severe malaria

Malaria Journal

Volumn 13, Issue 1, 2014, Pages

  Naka, Izumi ^a   Patarapotikul, Jintana ^b   Hananantachai, Hathairad ^b   Imai, Hiroo ^c   Ohashi, Jun ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b MAHIDOL UNIVERSITY   (Thailand)

^c KYOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; ENDOTHELIAL PROTEIN C RECEPTOR GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC MODEL; GENOTYPING TECHNIQUE; HUMAN; MAJOR CLINICAL STUDY; MALARIA CONTROL; MALARIA FALCIPARUM; MICROBIAL GENE; MOLECULAR PHYLOGENY; NUCLEOTIDE SEQUENCE; RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTITUTION LINE; THAILAND;

ADOLESCENT; ADULT; AGED; ANIMALS; ANTIGENS, CD; DISEASE RESISTANCE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; GENOTYPING TECHNIQUES; HUMANS; MALARIA, FALCIPARUM; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE; THAILAND; YOUNG ADULT;

EID: 84899062985     PISSN: None     EISSN: 14752875     Source Type: Journal    
DOI: 10.1186/1475-2875-13-105     Document Type: Article

References (39)

1. Molecular aspects of malaria pathogenesis. Rasti N, Wahlgren M, Chen Q, FEMS Immunol Med Microbiol 2004 41 9 26 10.1016/j.femsim.2004.01.010 15094163
2. A unified hypothesis for the genesis of cerebral malaria: sequestration, inflammation and hemostasis leading to microcirculatory dysfunction. van der Heyde HC, Nolan J, Combes V, Gramaglia I, Grau GE, Trends Parasitol 2006 22 503 508 10.1016/j.pt.2006.09.002 16979941
3. Pathogenesis, clinical features, and neurological outcome of cerebral malaria. Idro R, Jenkins NE, Newton CR, Lancet Neurol 2005 4 827 840 10.1016/S1474-4422(05)70247-7 16297841
4. Variant surface antigens, virulence genes and the pathogenesis of malaria. Deitsch KW, Hviid L, Trends Parasitol 2004 20 562 566 10.1016/j.pt.2004.09.002 15522665
5. A family affair: var genes, PfEMP1 binding, and malaria disease. Kraemer SM, Smith JD, Curr Opin Microbiol 2006 9 374 380 10.1016/j.mib.2006.06.006 16814594
6. Cytoadherence and sequestration in Plasmodium falciparum: defining the ties that bind. Sherman IW, Eda S, Winograd E, Microbes Infect 2003 5 897 909 10.1016/S1286-4579(03)00162-X 12919858
7. Severe malaria is associated with parasite binding to endothelial protein C receptor. Turner L, Lavstsen T, Berger SS, Wang CW, Petersen JE, Avril M, Brazier AJ, Freeth J, Jespersen JS, Nielsen MA, Magistrado P, Lusingu J, Smith JD, Higgins MK, Theander TG, Nature 2013 498 502 505 10.1038/nature12216 23739325
8. Silence, activate, poise and switch! Mechanisms of antigenic variation in Plasmodium falciparum. Guizetti J, Scherf A, Cell Microbiol 2013 15 718 726 10.1111/cmi.12115 23351305
9. Widespread functional specialization of Plasmodium falciparum erythrocyte membrane protein 1 family members to bind CD36 analysed across a parasite genome. Robinson BA, Welch TL, Smith JD, Mol Microbiol 2003 47 1265 1278 10.1046/j.1365-2958.2003.03378.x 12603733
10. Investigating the host binding signature on the Plasmodium falciparum PfEMP1 protein family. Janes JH, Wang CP, Levin-Edens E, Vigan-Womas I, Guillotte M, Melcher M, Mercereau-Puijalon O, Smith JD, PLoS Pathog 2011 7 1002032 10.1371/journal.ppat.1002032 21573138
11. A restricted subset of var genes mediates adherence of Plasmodium falciparum-infected erythrocytes to brain endothelial cells. Avril M, Tripathi AK, Brazier AJ, Andisi C, Janes JH, Soma VL, Sullivan DJ Jr, Bull PC, Stins MF, Smith JD, Proc Natl Acad Sci U S A 2012 109 1782 E1790 10.1073/pnas.1120534109 22619321
12. A subset of group A-like var genes encodes the malaria parasite ligands for binding to human brain endothelial cells. Claessens A, Adams Y, Ghumra A, Lindergard G, Buchan CC, Andisi C, Bull PC, Mok S, Gupta AP, Wang CW, Turner L, Arman M, Raza A, Bozdech Z, Rowe JA, Proc Natl Acad Sci U S A 2012 109 1772 E1781 10.1073/pnas.1120461109 22619330
13. Plasmodium falciparum erythrocyte membrane protein 1 domain cassettes 8 and 13 are associated with severe malaria in children. Lavstsen T, Turner L, Saguti F, Magistrado P, Rask TS, Jespersen JS, Wang CW, Berger SS, Baraka V, Marquard AM, Seguin-Orlando A, Willerslev E, Gilbert MT, Lusingu J, Theander TG, Proc Natl Acad Sci U S A 2012 109 1791 E1800 10.1073/pnas.1120455109 22619319
14. Structural and functional implications of the intron/exon organization of the human endothelial cell protein C/activated protein C receptor (EPCR) gene: comparison with the structure of CD1/major histocompatibility complex alpha1 and alpha2 domains. Simmonds RE, Lane DA, Blood 1999 94 632 641 10397730
15. Identification, cloning, and regulation of a novel endothelial cell protein C/activated protein C receptor. Fukudome K, Esmon CT, J Biol Chem 1994 269 26486 26491 7929370
16. Metalloproteolytic release of endothelial cell protein C receptor. Xu J, Qu D, Esmon NL, Esmon CT, J Biol Chem 2000 275 6038 6044 10.1074/jbc.275.8.6038 10681599
17. Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis. Uitte de Willige S, Van Marion V, Rosendaal FR, Vos HL, de Visser MC, Bertina RM, J Thromb Haemost 2004 2 1305 1310 10.1046/j.1538-7836. 2004.00855.x 15304035
18. Endothelial protein C receptor polymorphisms and risk of myocardial infarction. Medina P, Navarro S, Corral J, Zorio E, Roldan V, Estelles A, Santamaria A, Marin F, Rueda J, Bertina RM, Espana F, Haematologica 2008 93 1358 1363 10.3324/haematol.13066 18757851
19. FVII, FVIIa, and downstream markers of extrinsic pathway activation differ by EPCR Ser219Gly variant in healthy men. Ireland HA, Cooper JA, Drenos F, Acharya J, Mitchell JP, Bauer KA, Morrissey JH, Esnouf MP, Humphries SE, Arterioscler Thromb Vasc Biol 2009 29 1968 1974 10.1161/ATVBAHA.109.191551 19696402
20. Contribution of polymorphisms in the endothelial protein C receptor gene to soluble endothelial protein C receptor and circulating activated protein C levels, and thrombotic risk. Medina P, Navarro S, Estelles A, Vaya A, Woodhams B, Mira Y, Villa P, Migaud-Fressart M, Ferrando F, Aznar J, Bertina RM, Espana F, Thromb Haemost 2004 91 905 911 15116250
21. A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis. Saposnik B, Reny JL, Gaussem P, Emmerich J, Aiach M, Gandrille S, Blood 2004 103 1311 1318 14576048
22. Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: the Athero Gene study. Kallel C, Cohen W, Saut N, Blankenberg S, Schnabel R, Rupprecht HJ, Bickel C, Munzel T, Tregouet DA, Morange PE, BMC Med Genet 2012 13 103 23136988
23. Lack of association of soluble endothelial protein C receptor and PROCR 6936A/G polymorphism with the risk of venous thromboembolism in a prospective study. Yamagishi K, Cushman M, Heckbert SR, Tsai MY, Folsom AR, Br J Haematol 2009 145 221 226 10.1111/j.1365-2141.2009.07612.x 19222470
24. EPCR Ser219Gly: elevated sEPCR, prothrombin F1 + 2, risk for coronary heart disease, and increased sEPCR shedding in vitro. Ireland H, Konstantoulas CJ, Cooper JA, Hawe E, Humphries SE, Mather H, Goodall AH, Hogwood J, Juhan-Vague I, Yudkin JS, di Minno G, Margaglione M, Hamsten A, Miller GJ, Bauer KA, Kim YT, Stearns-Kurosawa DJ, Kurosawa S, Atherosclerosis 2005 183 283 292 10.1016/j.atherosclerosis.2005.02.028 15921688
25. The International HapMap Project. The International HapMap Consortium, Nature 2003 426 789 796 10.1038/nature02168 14685227
26. A haplotype map of the human genome. The International HapMap Consortium, Nature 2005 437 1299 1320 10.1038/nature04226 16255080
27. A map of human genome variation from population-scale sequencing. Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA, Nature 2010 467 1061 1073 10.1038/nature09534 20981092
28. Haploview: analysis and visualization of LD and haplotype maps. Barrett JC, Fry B, Maller J, Daly MJ, Bioinformatics 2005 21 263 265 10.1093/bioinformatics/bth457 15297300
29. A method and server for predicting damaging missense mutations. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR, Nat Methods 2010 7 248 249 10.1038/nmeth0410-248 20354512
30. RegSNP. [ http://viis.abdn.ac.uk/regsnp/Home.aspx ]
31. A simple method for estimating evolutionary rates of base substitutions through comparative studies of nucleotide sequences. Kimura M, J Mol Evol 1980 16 111 120 10.1007/BF01731581 7463489
32. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Saitou N, Nei M, Mol Biol Evol 1987 4 406 425 3447015
33. MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Tamura K, Peterson D, Peterson N, Stecher G, Nei M, Kumar S, Mol Biol Evol 2011 28 2731 2739 10.1093/molbev/msr121 21546353
34. Unbiased estimation of evolutionary distance between nucleotide sequences. Tajima F, Mol Biol Evol 1993 10 677 688 8336549
35. Simple methods for testing the molecular evolutionary clock hypothesis. Tajima F, Genetics 1993 135 599 607 8244016
36. Simple methods for estimating the numbers of synonymous and nonsynonymous nucleotide substitutions. Nei M, Gojobori T, Mol Biol Evol 1986 3 418 426 3444411
37. Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins. Mast SW, Diekman K, Karaveg K, Davis A, Sifers RN, Moremen KW, Glycobiology 2005 15 421 436 15537790
38. Plasmodium falciparum picks (on) EPCR. Aird WC, Mosnier LO, Fairhurst RM, Blood 2014 123 163 167 10.1182/blood-2013-09-521005 24246501
39. Loss of endothelial protein C receptors links coagulation and inflammation to parasite sequestration in cerebral malaria in African children. Moxon CA, Wassmer SC, Milner DA, Chisala NV, Taylor TE, Seydel KB, Molyneux ME, Faragher B, Esmon CT, Downey C, Toh CH, Craig AG, Heyderman RS, Blood 2013 122 842 851 10.1182/blood-2013-03-490219 23741007