Functional polymorphisms in IL13 are protective against high Schistosoma mansoni infection intensity in a Brazilian population

PLoS ONE

Volumn 7, Issue 5, 2012, Pages

  Grant, Audrey V ^a,b   Araujo, Maria Ilma ^c   Ponte, Eduardo Vieira ^c   Oliveira, Ricardo Riccio ^c   Gao, Peisong ^b   Cruz, Alvaro A ^c   Barnes, Kathleen C ^a,b   Beaty, Terri H ^a  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c FEDERAL UNIVERSITY OF BAHIA   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 13; IMMUNOGLOBULIN E;

5' UNTRANSLATED REGION; ADULT; ARTICLE; BRAZIL; BRAZILIAN; CONTROLLED STUDY; DISEASE TRANSMISSION; DNA POLYMORPHISM; ETHNICITY; EXON; FECES ANALYSIS; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENOTYPE; HOST RESISTANCE; HUMAN; IMMUNE RESPONSE; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN PRODUCTION; INTRON; MAJOR CLINICAL STUDY; MALE; SCHISTOSOMA HEMATOBIUM; SCHISTOSOMA MANSONI; SCHISTOSOMIASIS HAEMATOBIA; SCHISTOSOMIASIS MANSONI; SINGLE NUCLEOTIDE POLYMORPHISM; TH2 CELL; ANIMAL; BLOOD; ENDEMIC DISEASE; GENETICS; IMMUNOLOGY; PATHOGENICITY;

SCHISTOSOMA HAEMATOBIUM; SCHISTOSOMA MANSONI;

ADULT; ANIMALS; BRAZIL; ENDEMIC DISEASES; FEMALE; HUMANS; IMMUNOGLOBULIN E; INTERLEUKIN-13; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHISTOSOMA MANSONI; SCHISTOSOMIASIS MANSONI; TH2 CELLS;

EID: 84860503078     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0035863     Document Type: Article

References (36)

1. King CH, Dickman K, Tisch DJ, (2005) Reassessment of the cost of chronic helmintic infection: a meta-analysis of disability-related outcomes in endemic schistosomiasis. Lancet; 365: 1561-9.
2. Pearce EJ, MacDonald AS, (2002) The immunobiology of schistosomiasis. Nat Rev Immunol; 2: 499-511.
3. Bethony JM, Quinnell RJ, (2008) Genetic epidemiology of human schistosomiasis in Brazil. Acta Trop; 108: 166-74.
4. Quinnell RJ, (2003) Genetics of susceptibility to human helminth infection. Int J Parasitol; 33: 1219-31.
5. Caldas IR, Campi-Azevedo AC, Oliveira LF, Silveira AM, Oliveira RC, et al. (2008) Human schistosomiasis mansoni: immune responses during acute and chronic phases of the infection. Acta Trop; 108: 109-17.
6. Kelly-Welch AE, Hanson EM, Boothby MR, Keegan AD, (2003) Interleukin-4 and interleukin-13 signaling connections maps. Science; 300: 1527-8.
7. Vercelli D, (2002) Genetics of IL-13 and functional relevance of IL-13 variants. Curr Opin Allergy Clin Immunol; 2: 389-93.
8. Ober C, Hoffjan S, (2006) Asthma genetics 2006: the long and winding road to gene discovery Genes Immun; 7: 95-100.
9. Meyers DA, Beaty TH, Colyer CR, Marsh DG, (1991) Genetics of total serum IgE levels: a regressive model approach to segregation analysis. Genet Epidemiol; 8: 351-9.
10. Gerrard JW, Rao DC, Morton NE, (1978) A genetic study of immunoglobulin E. Am J Hum Genet; 30: 46-58.
11. Grant AV, Araujo MI, Ponte EV, Oliveira RR, Cruz AA, et al. (2008) High heritability but uncertain mode of inheritance for total serum IgE level and Schistosoma mansoni infection intensity in a schistosomiasis-endemic Brazilian population. J Infect Dis; 198: 1227-36.
12. Hoffjan S, Ober C, (2002) Present status on the genetic studies of asthma. Curr Opin Immunol; 14: 709-17.
13. Marquet S, Abel L, Hillaire D, Dessein H, Kalil J, et al. (1996) Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet; 14: 181-4.
14. Muller-Myhsok B, Stelma FF, Guisse-Sow F, Muntau B, Thye T, et al. (1997) Further evidence suggesting the presence of a locus, on human chromosome 5q31-q33, influencing the intensity of infection with Schistosoma mansoni. Am J Hum Genet; 61: 452-4.
15. van der Pouw Kraan TC, van Veen A, Boeije LC, van Tuyl SA, de Groot ER, et al. (1999) An IL-13 promoter polymorphism associated with increased risk of allergic asthma. Genes Immun; 1: 61-5.
16. Cameron L, Webster RB, Strempel JM, Kiesler P, Kabesch M, et al. (2006) Th2 cell-selective enhancement of human IL13 transcription by IL13-1112C>T, a polymorphism associated with allergic inflammation. J Immunol; 177: 8633-42.
17. Arima K, Umeshita-Suyama R, Sakata Y, Akaiwa M, Mao XQ, et al. (2002) Upregulation of IL-13 concentration in vivo by the IL13 variant associated with bronchial asthma. J Allergy Clin Immunol; 109: 980-7.
18. Kouriba B, Chevillard C, Bream JH, Argiro L, Dessein H, et al. (2005) Analysis of the 5q31-q33 locus shows an association between IL13-1055C/T IL-13-591A/G polymorphisms and Schistosoma haematobium infections. J Immunol; 174: 6274-81.
19. Gatlin MR, Black CL, Mwinzi PN, Secor WE, Karanja DM, et al. (2009) Association of the gene polymorphisms IFN-gamma +874, IL-13-1055 and IL-4-590 with patterns of reinfection with Schistosoma mansoni. PLoS Negl Trop Dis; 3: e375.
20. Katz N, Zicker F, RS Rocha RS, VB Oiveira VB, (1978) Reinfection of patients in schistosomiasis mansoni endemic areas after specific treatment. Revista do Instituto de Medicina Tropical de Sao Paulo; 20: 273-8.
21. Katz N, Coelho PM, Pellegrino J, (1970) Evaluation of Kato's quantitative method through the recovery of Schistosoma mansoni eggs added to human feces. Journal of Parasitology; 56: 1032-3.
22. Tarazona-Santos E, Tishkoff SA, (2005) Divergent patterns of linkage disequilibrium and haplotype structure across global populations at the interleukin-13 (IL13) locus. Genes Immun; 6: 53-65.
23. Azevedo ES, (1980) Subgroup studies of black admixture within a mixed population of Bahia, Brazil. Ann Hum Genet; 44(Pt 1): 55-60.
24. Zeger SL, Liang KY, (1986) Longitudinal data analysis for discrete and continuous outcomes. Biometrics; 42: 121-30.
25. Abecasis GR, Cookson WO, Cardon LR, (2000) Pedigree tests of transmission disequilibrium. Eur J Hum Genet; 8: 545-51.
26. Abecasis GR, Cardon LR, Cookson WO, (2000) A general test of association for quantitative traits in nuclear families. Am J Hum Genet; 66: 279-92.
27. Grant AV, Araujo MI, Ponte EV, Oliveira RR, Cruz AA, et al. (2011) Polymorphisms in IL10 are associated with total Immunoglobulin E levels and Schistosoma mansoni infection intensity in a Brazilian population. Genes Immun; 12: 46-50.
28. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, et al. (2002) The structure of haplotype blocks in the human genome. Science; 296 (5576): 2225-9.
29. Gauderman WJ, (2002) Sample size requirements for matched case-control studies of gene-environment interaction. Stat Med; 21: 35-50.
30. Isnard A, Kouriba B, Doumbo O, Chevillard C, (2011) Association of rs7719175, located in the IL13 gene promoter, with Schistosoma haematobium infection levels and identification of a susceptibility haplotype. Genes Immun; 12: 31-9.
31. Hummelshoj T, Bodtger U, Datta P, Malling HJ, Oturai A, et al. (2003) Association between an interleukin-13 promoter polymorphism and atopy. Eur J Immunogenet; 30: 355-9.
32. Howard TD, Koppelman GH, Xu J, Zheng SL, Postma DS, et al. (2002) Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am J Hum Genet; 70: 230-6.
33. Heinzmann A, Mao XQ, Akaiwa M, Kreomer RT, Gao PS, et al. (2000) Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet; 9: 549-59.
34. M Masters M, E Barrett-Connor E. 1985) Parasites and asthma - predictive or protective? Epidemiology Reviews; 7: 49-58.
35. Marsh DG, Neely JD, Breazeale DR, Ghosh B, Freidhoff LR, et al. (1994) Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science; 264: 1152-6.
36. Maier LM, Howson JM, Walker N, Spickett GP, Jones RW, et al. (2006) Association of IL13 with total IgE: evidence against an inverse association of atopy and diabetes. J Allergy Clin Immunol; 117: 1306-13.