NLRP1 haplotypes associated with leprosy in Brazilian patients

Infection, Genetics and Evolution

Volumn 19, Issue , 2013, Pages 274-279

  Pontillo, Alessandra ^a   Laurentino, Weber ^b   Crovella, Sergio ^c   Pereira, Ana Carla ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO LAURO DE SOUZA LIMA   (Brazil)

^c FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

Author keywords

IL 1 ; Inflammasome; Innate immunity; Leprosy; NALP1 NLRP1; Polymorphisms

Indexed keywords

CRYOPYRIN;

ADULT; ARTICLE; BRAZIL; CONTROLLED STUDY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; LEPROSY; MAJOR CLINICAL STUDY; MALE; MULTIBACILLARY LEPROSY; NLRP1 GENE; NLRP3 GENE; PAUCIBACILLARY LEPROSY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

MYCOBACTERIUM LEPRAE;

IL-1Β; INFLAMMASOME; INNATE IMMUNITY; LEPROSY; NALP1/NLRP1; POLYMORPHISMS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; APOPTOSIS REGULATORY PROTEINS; BRAZIL; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; LEPROSY; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 84885177151     PISSN: 15671348     EISSN: 15677257     Source Type: Journal    
DOI: 10.1016/j.meegid.2013.06.006     Document Type: Article

References (50)

1. Abdalla H., Srinivasan L., Shah S., Mayer-Barber K.D., Sher A., Sutterwala F.S., Briken V. Mycobacterium tuberculosis infection of dendritic cells leads to partially caspase-1/11-independent IL-1β and IL-18 secretion but not to pyroptosis. PLoS One 2012, 7(7):e40722.
2. Berrington W.R., Macdonald M., Khadge S., Sapkota B.R., Janer M., Hagge D.A., Kaplan G., Hawn T.R. Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states. J. Infect. Dis. 2010, 201(9):1422-1435.
3. Broz P., Monack D.M. Molecular mechanisms of inflammasome activation during microbial infections. Immunol. Rev. 2011, 243(1):174-190.
4. Cardoso C.C., Pereira A.C., Brito de Souza V.N., Dias-Baptista I.M., Maniero V.C., Venturini J., Vilani-Moreno F.R., de Souza F.C., Ribeiro-Alves M., Sarno E.N., Pacheco A.G., Moraes M.O. IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians. Hum. Genet. 2010, 128(5):481-490.
5. Cardoso C.C., Pereira A.C., Brito de Souza V.N., Duraes S.M., Ribeiro-Alves M., Nery J.A., Francio Â.S., Vanderborght P.R., Parelli F.P., Alter A., Salgado J.L., Sampaio E.P., Santos A.R., Oliveira M.L., Sarno E.N., Schurr E., Mira M.T., Pacheco A.G., Moraes M.O. TNF -308G>A single nucleotide polymorphism is associated with leprosy among Brazilians: a genetic epidemiology assessment, meta-analysis, and functional study. J. Infect. Dis. 2011, 204(8):1256-1263.
6. Cardoso C.C., Pereira A.C., de Sales Marques C., Moraes M.O. Leprosy susceptibility: genetic variations regulate innate and adaptive immunity, and disease outcome. Future Microbiol. 2011, 6(5):533-549.
7. Cummings J.R., Cooney R.M., Clarke G., Beckly J., Geremia A., Pathan S., Hancock L., Guo C., Cardon L.R., Jewell D.P. The genetics of NOD-like receptors in Crohn's disease. Tissue Antigens 2010, 76(1):48-56.
8. de Rivero Vaccari J.P., Lotocki G., Alonso O.F., Bramlett H.M., Dietrich W.D., Keane R.W. Therapeutic neutralization of the NLRP1 inflammasome reduces the innate immune response and improves histopathology after traumatic brain injury. J. Cereb. Blood Flow Metab. 2009, 29(7):1251-1261.
9. Dorhoi A., Nouailles G., Jörg S., Hagens K., Heinemann E., Pradl L., Oberbeck-Müller D., Duque-Correa M.A., Reece S.T., Ruland J., Brosch R., Tschopp J., Gross O., Kaufmann S.H. Activation of the NLRP3 inflammasome by Mycobacterium tuberculosis is uncoupled from susceptibility to active tuberculosis. Eur. J. Immunol. 2012, 42(2):374-384.
10. Fernando S.L., Britton W.J. Genetic susceptibility to mycobacterial disease in humans. Immunol. Cell Biol. 2006, 84:125-137.
11. Fine P.E. Implications of genetics for the epidemiology and control of leprosy. Philos. Trans. R. Soc. Lond. B Biol. Sci. 1988, 321(1207):365-376.
12. Finger J.N., Lich J.D., Dare L.C., Cook M.N., Brown K.K., Duraiswami C., Bertin J., Gough P.J. Autolytic proteolysis within the function to find domain (FIIND) is required for NLRP1 inflammasome activity. J. Biol. Chem. 2012, 287(30):25030-25037.
13. Geluk A., Ottenhoff T.H. HLA and leprosy in the pre and postgenomic eras. Hum. Immunol. 2006, 67:439-445.
14. Glinskii A.B., Ma J., Ma S., Grant D., Lim C.U., Sell S., Glinsky G.V. Identification of intergenic trans-regulatory RNAs containing a disease-linked SNP sequence and targeting cell cycle progression/differentiation pathways in multiple common human disorders. Cell Cycle 2009, 8(23):3925-3942.
15. Grant A.V., Alter A., Huong N.T., Orlova M., Van Thuc N., Ba N.N., Thai V.H., Abel L., Schurr E., Alcais A. Crohn's disease susceptibility genes are associated with leprosy in the Vietnamese population. J. Infect. Dis. 2012, 206(11):1763-1767.
16. Greenstein R.J. Is Crohn's disease caused by a mycobacterium? Comparisons with leprosy, tuberculosis, and Johne's disease. Lancet Infect. Dis. 2003, 3(8):507-514.
17. Gross O., Thomas C.J., Guarda G., Tschopp J. The inflammasome: an integrated view. Immunol. Rev. 2011, 243(1):136-151.
18. Hsu L.C., Ali S.R., McGillivray S., Tseng P.H., Mariathasan S., Humke E.W., Eckmann L., Powell J.J., Nizet V., Dixit V.M., Karin M. A NOD2-NALP1 complex mediates caspase-1-dependent IL-1beta secretion in response to Bacillus anthracis infection and muramyl dipeptide. Proc. Natl. Acad. Sci. USA 2008, 105(22):7803-7808.
19. Jin Y., Mailloux C.M., Gowan K., Riccardi S.L., LaBerge G., Bennett D.C., Fain P.R., Spritz R.A. NALP1 in vitiligo-associated multiple autoimmune disease. N. Engl. J. Med. 2007, 356(12):1216-1225.
20. Kummer J.A., Broekhuizen R., Everett H., Agostini L., Kuijk L., Martinon F., van Bruggen R., Tschopp J. Inflammasome components NALP1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. J. Histochem. Cytochem. 2007, 55(5):443-452.
21. Lamkanfi M., Dixit V.M. Modulation of inflammasome pathways by bacterial and viral pathogens. J. Immunol. 2011, 187(2):597-602.
22. Lamkanfi M., Dixit V.M. Inflammasomes and their roles in health and disease. Annu. Rev. Cell Dev. Biol. 2012, 28:137-161.
23. Lee H.M., Yuk J.M., Kim K.H., Jang J., Kang G., Park J.B., Son J.W., Jo E.K. Mycobacterium abscessus activates the NLRP3 inflammasome via Dectin-1-Syk and p62/SQSTM1. Immunol. Cell Biol. 2012, 90(6):601-610.
24. Levandowski C.B., Mailloux C.M., Ferrara T.M., Gowan K., Ben S., Jin Y., McFann K.K., Holland P.J., Fain P.R., Dinarello C.A., Spritz R.A. NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome. Proc. Natl. Acad. Sci. USA 2013, 110(8):2952-2956.
25. Lev-Sagie A., Prus D., Linhares I.M., Lavy Y., Ledger W.J., Witkin S.S. Polymorphism in a gene coding for the inflammasome component NALP3 and recurrent vulvovaginal candidiasis in women with vulvar vestibulitis syndrome. Am. J. Obstet. Gynecol. 2009, 200(303):e1-e6.
26. Liu H., Irwanto A., Tian H., Fu X., Yu Y., Yu G., Low H., Chu T., Li Y., Shi B., Chen M., Sun Y., Yuan C., Lu N., You J., Bao F., Li J., Liu J., Liu H., Liu D., Yu X., Zhang L., Yang Q., Wang N., Niu G., Ma S., Zhou Y., Wang C., Chen S., Zhang X., Liu J., Zhang F.I. Identification of IL18RAP/IL18R1 and IL12B as leprosy risk genes demonstrates shared pathogenesis between inflammation and infectious diseases. Am. J. Hum. Genet. 2012, 91(5):935-941.
27. Magitta N.F., Bøe Wolff A.S., Johansson S., Skinningsrud B., Lie B.A., Myhr K.M., Undlien D.E., Joner G., Njølstad P.R., Kvien T.K., Førre Ø., Knappskog P.M., Husebye E.S. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes Immun. 2008, 10(2):120-124.
28. Makino M., Maeda Y., Mukai T., Kaufmann S.H. Impaired maturation and function of dendritic cells by mycobacteria through IL-1beta. Eur. J. Immunol. 2006, 36(6):1443-1452.
29. Master S.S., Rampini S.K., Davis A.S., Keller C., Ehlers S., Springer B., Timmins G.S., Sander P., Deretic V. Mycobacterium tuberculosis prevents inflammasome activation. Cell Host Microbe 2008, 3(4):224-232.
30. Misch E.A., Berrington W.R., Vary J.C., Hawn T.R. Leprosy and the human genome. Microbiol. Mol. Biol. Rev. 2010, 74(4):589-620.
31. Mishra B.B., Moura-Alves P., Sonawane A., Hacohen N., Griffiths G., Moita L.F., Anes E. Mycobacterium tuberculosis protein ESAT-6 is a potent activator of the NLRP3/ASC inflammasome. Cell Microbiol. 2010, 12(8):1046-1063.
32. Modlin R.L. The innate immune response in leprosy. Curr. Opin. Immunol. 2010, 22(1):48-54.
33. Murray R.A., Siddiqui M.R., Mendillo M., Krahenbuhl J., Kaplan G. Mycobacterium leprae inhibits dendritic cell activation and maturation. J. Immunol. 2007, 178(1):338-344.
34. Pontillo A., Brandao L., Guimaraes R., Segat L., Araujo J., Crovella S. Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil. Autoimmunity 2010, 43(8):583-589.
35. Pontillo A., Brandão L.A., Guimarães R.L., Segat L., Athanasakis E., Crovella S. A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. J. Acquir. Immune Defic. Syndr. 2010, 54(3):236-240.
36. Pontillo A., Vendramin A., Catamo E., Fabris A., Crovella S. The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease. Am. J. Gastroenterol. 2011, 106(3):539-544.
37. Pontillo A., Catamo E., Arosio B., Mari D., Crovella S. NALP1/NLRP1 genetic variants are associated with Alzheimer Disease. Alzheimer Dis. Assoc. Disord. 2012, 26(3):277-281.
38. Pontillo A., Girardelli M., Kamada A.J., Pancotto J.A., Donadi E.A., Crovella S., Sandrin-Garcia P. Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus. Autoimmunity 2012, 45(4):271-278.
39. Pontillo A., Oshiro T.M., Girardelli M., Kamada A.J., Crovella S., Duarte A.J. Polymorphisms in inflammasome' genes and susceptibility to HIV-1 infection. J. Acquir. Immune Defic. Syndr. 2012, 59(2):121-125.
40. Ridley D.S., Jopling W.H. Classification of leprosy according to immunity. A five-group system. Int. J. Lepr. Other Mycobact. Dis. 1996, 34(3):255-273.
41. Roberts R.L., Topless R.K., Phipps-Green A.J., Gearry R.B., Barclay M.L., Merriman T.R. Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease. Genes Immun. 2010, 11(4):351-356.
42. Schurr E., Gros P. A common genetic fingerprint in leprosy and Crohn's disease. N. Engl. J. Med. 2009, 361(27):2666-2668.
43. Sinsimer D., Fallows D., Peixoto B., Krahenbuhl J., Kaplan G., Manca C. Mycobacterium leprae actively modulates the cytokine response in naive human monocytes. Infect. Immun. 2010, 78(1):293-300.
44. Vargas A.E., Marrero A.R., Salzano F.M., Bortolini M.C., Chies J.A. Frequency of CCR5delta32 in Brazilian populations. Braz. J. Med. Biol. Res. 2006, 39:321-325.
45. Veit T.D., Cordero E.A., Mucenic T., Monticielo O.A., Brenol J.C., Xavier R.M., Delgado-Cañedo A., Chies J.A. Association of the HLA-G 14 bp polymorphism with systemic lupus erythematosus. Lupus 2009, 18:424-430.
46. Verma D., Lerm M., Blomgran Julinder R., Eriksson P., Söderkvist P., Särndahl E. Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases?. Arthritis Rheum. 2008, 58(3):888-894.
47. Villani A.C., Lemire M., Fortin G., Louis E., Silverberg M.S., Collette C., Baba N., Libioulle C., Belaiche J., Bitton A., Gaudet D., Cohen A., Langelier D., Fortin P.R., Wither J.E., Sarfati M., Rutgeerts P., Rioux J.D., Vermeire S., Hudson T.J., Franchimont D. Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat. Genet. 2009, 41(1):71-76.
48. Walker S.L., Lockwood D.N. The clinical and immunological features of leprosy. Br. Med. Bull. 2006, 77-78:103-121.
49. Wong K.W., Jacobs W.R. Critical role for NLRP3 in necrotic death triggered by Mycobacterium tuberculosis. Cell. Microbiol. 2011, 13(9):1371-1384.
50. Zhang F.R., Huang W., Chen S.M., Sun L.D., Liu H., Li Y., Cui Y., Yan X.X., Yang H.T., Yang R.D., Chu T.S., Zhang C., Zhang L., Han J.W., Yu G.Q., Quan C., Yu Y.X., Zhang Z., Shi B.Q., Zhang L.H., Cheng H., Wang C.Y., Lin Y., Zheng H.F., Fu X.A., Zuo X.B., Wang Q., Long H., Sun Y.P., Cheng Y.L., Tian H.Q., Zhou F.S., Liu H.X., Lu W.S., He S.M., Du W.L., Shen M., Jin Q.Y., Wang Y., Low H.Q., Erwin T., Yang N.H., Li J.Y., Zhao X., Jiao Y.L., Mao L.G., Yin G., Jiang Z.X., Wang X.D., Yu J.P., Hu Z.H., Gong C.H., Liu Y.Q., Liu R.Y., Wang D.M., Wei D., Liu J.X., Cao W.K., Cao H.Z., Li Y.P., Yan W.G., Wei S.Y., Wang K.J., Hibberd M.L., Yang S., Zhang X.J., Liu J.J. Genome-wide association study of leprosy. N. Engl. J. Med. 2009, 361(27):2609-2618.