IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians

Human Genetics

Volumn 128, Issue 5, 2010, Pages 481-490

  Cardoso, C C ^a   Pereira, A C ^b   Brito De Souza, V N ^b   Dias Baptista, I M ^b   Maniero, V C ^a   Venturini, J ^b,c   Vilani Moreno, F R ^b   De Souza, F C ^b   Ribeiro Alves, M ^a   Sarno, E N ^a   Pacheco, A G ^a   Moraes, M O ^a  

^a INSTITUTO OSWALDO CRUZ   (Brazil)

^b INSTITUTO LAURO DE SOUZA LIMA   (Brazil)

^c SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON;

ADULT; ARTICLE; BRAZIL; CASE CONTROL STUDY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LEPROSY; MAJOR CLINICAL STUDY; MALE; MYCOBACTERIUM LEPRAE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TUBERCULOSIS; CHI SQUARE DISTRIBUTION; GENETIC PREDISPOSITION; GENETICS; ISOLATION AND PURIFICATION; MIDDLE AGED; RISK; RISK FACTOR;

MYCOBACTERIUM; MYCOBACTERIUM LEPRAE;

ADULT; BRAZIL; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERFERON-GAMMA; LEPROSY; MALE; MIDDLE AGED; MYCOBACTERIUM LEPRAE; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 78049421645     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0872-x     Document Type: Article

References (51)

1. L Abel F Demenais 1988 Detection of major genes for susceptibility to leprosy and its subtypes in a Caribbean island: Desirade Island Am J Hum Genet 42 2 256 266 1:STN:280:DyaL1c7jtFSnsQ%3D%3D 3341381
2. Agnello D, Gadina M (2006) The biology of cytokines: general principles, properties, and lessons from animal models. In: Vandenbroeck K (ed) Cytokine gene polymorphisms in multifactorial conditions, vol 1, 1st edn. CRC Press Taylor & Francis Group, Boca Raton, pp 3-33
3. A Alcais FO Sanchez NV Thuc VD Lap J Oberti PH Lagrange E Schurr L Abel 2000 Granulomatous reaction to intradermal injection of lepromin (Mitsuda reaction) is linked to the human NRAMP1 gene in Vietnamese leprosy sibships J Infect Dis 181 302 308 1:STN:280:DC%2BD3c%2FoslShtA%3D%3D 10.1086/315174 10608779 (Pubitemid 30049061)
4. A Alcais A Alter G Antoni M Orlova VT Nguyen M Singh PR Vanderborght K Katoch MT Mira HT Vu TH Ngyuen NB Nguyen M Moraes N Mehra E Schurr L Abel 2007 Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy Nat Genet 39 517 522 1:CAS:528:DC%2BD2sXjsV2hs7o%3D 10.1038/ng2000 17353895 (Pubitemid 46514779)
5. A Alter A Alcais L Abel E Schurr 2008 Leprosy as a genetic model for susceptibility to common infectious diseases Hum Genet 123 227 235 10.1007/s00439-008-0474-z 18247059
6. A Alter L de Léséleuc N Van Thuc V Thai N Huong NN Ba CC Cardoso AV Grant L Abel MO Moraes A Alcaïs E Schurr 2010 Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility Hum Genet 127 337 348 1:CAS:528:DC%2BC3cXhvFektLo%3D 10.1007/s00439-009-0775-x 20035344
7. CC Cardoso AN Martinez PE Guimaraes CT Mendes AG Pacheco RB de Oliveira RM Teles X Illarramendi EP Sampaio EN Sarno E Dias-Neto MO Moraes 2007 Ninjurin 1 asp110ala single nucleotide polymorphism is associated with protection in leprosy nerve damage J Neuroimmunol 190 131 138 1:CAS:528:DC%2BD2sXht1agsb%2FO 10.1016/j.jneuroim.2007.07.015 17825431 (Pubitemid 47628869)
8. CS Carlson MA Eberle MJ Rieder Q Yi L Kruglyak DA Nickerson 2004 Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium Am J Hum Genet 74 106 120 1:CAS:528:DC%2BD2cXlvVOrsA%3D%3D 10.1086/381000 14681826 (Pubitemid 38085242)
9. LR Castellano DC Filho L Argiro H Dessein A Prata A Dessein V Rodrigues 2009 Th1/Th2 immune responses are associated with active cutaneous leishmaniasis and clinical cure is associated with strong interferon-gamma production Hum Immunol 70 383 390 1:CAS:528:DC%2BD1MXmsFyitbk%3D 10.1016/j.humimm.2009.01.007 19480861
10. Chakravartti M, Vogel F (1973) A twin study on leprosy. In: Becker PE, Lenz W, Vogel F, Wendt GG (eds) Topics in human genetics, vol 1. Georg Thieme, Stuttgart, pp 1-123
11. ST Chang JJ Linderman DE Kirschner 2008 Effect of multiple genetic polymorphisms on antigen presentation and susceptibility to Mycobacterium tuberculosis infection Infect Immun 76 3221 3232 1:CAS:528:DC%2BD1cXotlKhu74%3D 10.1128/IAI.01677-07 18443099
12. W Cozen PS Gill MT Salam A Nieters R Masood MG Cockburn WJ Gauderman O Martinez-Maza BN Nathwani MC Pike DJ Van Den Berg AS Hamilton DM Deapen TM Mack 2008 Interleukin-2, interleukin-12, and interferon-gamma levels and risk of young adult Hodgkin lymphoma Blood 111 3377 3382 1:CAS:528:DC%2BD1cXktlWmsr0%3D 10.1182/blood-2007-08-106872 18077789
13. NL Delaney V Esquenazi DP Lucas AA Zachary MS Leffell 2004 TNF-alpha, TGF-beta, IL-10, IL-6, and INF-gamma alleles among African Americans and Cuban Americans. Report of the ASHI Minority Workshops: Part IV Hum Immunol 65 1413 1419 1:CAS:528:DC%2BD2cXhtVyqsrbL 10.1016/j.humimm.2004.07.240 15603866 (Pubitemid 39643220)
14. J Fitness S Floyd DK Warndorff L Sichali L Mwaungulu AC Crampin PE Fine AV Hill 2004 Large-scale candidate gene study of leprosy susceptibility in the Karonga district of northern Malawi Am J Trop Med Hyg 71 330 340 1:CAS:528:DC%2BD2cXosVyitL4%3D 15381816 (Pubitemid 39223511)
15. DS Franceschi PS Mazini CC Rudnick AM Sell LT Tsuneto ML Ribas PR Peixoto JE Visentainer 2009 Influence of TNF and IL10 gene polymorphisms in the immunopathogenesis of leprosy in the south of Brazil Int J Infect Dis 13 493 498 1:CAS:528:DC%2BD1MXht1ans7bP 10.1016/j.ijid.2008.08.019 19058987
16. DM Girnita SA Webber R Ferrell GJ Burckart MM Brooks KK McDade R Chinnock C Canter L Addonizio D Bernstein JK Kirklin AL Girnita A Zeevi 2006 Disparate distribution of 16 candidate single nucleotide polymorphisms among racial and ethnic groups of pediatric heart transplant patients Transplantation 82 1774 1780 1:CAS:528:DC%2BD2sXjtVKk 10.1097/01.tp.0000250656.33731.08 17198275 (Pubitemid 46035666)
17. VA Govan HR Carrara JA Sachs M Hoffman GA Stanczuk AL Williamson 2003 Ethnic differences in allelic distribution of IFN-g in South African women but no link with cervical cancer J Carcinog 2 3 10.1186/1477-3163-2-3 12809559 (Pubitemid 38751380)
18. DA Hagge NA Ray JL Krahenbuhl LB Adams 2004 An in vitro model for the lepromatous leprosy granuloma: fate of Mycobacterium leprae from target macrophages after interaction with normal and activated effector macrophages J Immunol 172 7771 7779 1:CAS:528:DC%2BD2cXks1agsLo%3D 15187161
19. S Henri F Stefani D Parzy C Eboumbou A Dessein C Chevillard 2002 Description of three new polymorphisms in the intronic and 3'UTR regions of the human interferon gamma gene Genes Immun 3 1 4 1:CAS:528:DC%2BD38XitVWgur8%3D 10.1038/sj.gene.6363809 11857052 (Pubitemid 38961097)
20. LA Larcombe PH Orr AM Lodge JS Brown IJ Dembinski LC Milligan EA Larcombe BD Martin PW Nickerson 2008 Functional gene polymorphisms in Canadian aboriginal populations with high rates of tuberculosis J Infect Dis 198 1175 1179 10.1086/592049 18713057
21. M Liu B Cao H Zhang Y Dai X Liu, et al. 2006 Association of interferon-gamma gene haplotype in the Chinese population with hepatitis B virus infection Immunogenetics 58 859 864 1:CAS:528:DC%2BD28Xht1ert7%2FL 10.1007/s00251-006-0161-y 17033822 (Pubitemid 44813044)
22. RI Lopez Roa C Guerrero Velasquez A Alvarado Navarro M Montoya Buelna C Garcia Niebla M Fafutis Morris 2008 Recovery of IFN-gamma levels in PBMCs from lepromatous leprosy patients through the synergistic actions of the cytokines IL-12 and IL-18 Int Immunopharmacol 8 1715 1720 1:CAS:528:DC%2BD1cXhtlGht7jO 10.1016/j.intimp.2008.07.010 18708162
23. D López-Maderuelo F Arnalich R Serantes A González R Codoceo 2003 Interferon-gamma and interleukin-10 gene polymorphisms in pulmonary tuberculosis Am J Respir Crit Care Med 167 970 975 10.1164/rccm.200205-438BC 12531774 (Pubitemid 36408162)
24. D Malhotra K Darvishi S Sood S Sharma C Grover V Relhan BS Reddy RN Bamezai 2005 IL-10 promoter single nucleotide polymorphisms are significantly associated with resistance to leprosy Hum Genet 118 295 300 1:CAS:528: DC%2BD2MXht1aitLzL 10.1007/s00439-005-0042-8 16163478 (Pubitemid 41672092)
25. GI Matos J Covas Cde C Bittar Rde A Gomes-Silva F Marques VC Maniero VS Amato MP Oliveira-Neto S Mattos Mda C Pirmez EP Sampaio MO Moraes AM Da-Cruz 2007 IFNG +874T/A polymorphism is not associated with American tegumentary leishmaniasis susceptibility but can influence Leishmania induced IFN-gamma production BMC Infect Dis 7 33 10.1186/1471-2334-7-33 17456233 (Pubitemid 46863629)
26. EAMM Misch C Ranjit BR Sapkota RD Wells 2008 Human TLR1 Deficiency Is Associated with Impaired Mycobacterial Signaling and Protection from Leprosy Reversal Reaction PLoS Negl Trop Dis 2 e231 10.1371/journal.pntd.0000231 18461142 (Pubitemid 352002910)
27. M Monot N Honoré T Garnier N Zidane D Sherafi A Paniz-Mondolfi M Matsuoka GM Taylor HD Donoghue A Bouwman S Mays C Watson D Lockwood A Khamispour Y Dowlati S Jianping TH Rea L Vera-Cabrera MM Stefani S Banu M Macdonald BR Sapkota JS Spencer J Thomas K Harshman P Singh P Busso A Gattiker J Rougemont PJ Brennan ST Cole 2009 Comparative genomic and phylogeographic analysis of Mycobacterium leprae Nat Genet 41 1282 1289 1:CAS:528:DC%2BD1MXhtlers7bO 10.1038/ng.477 19881526
28. MODN Moraes PN Suffys AR Santos AS Almeida JA Nery EP Sampaio EN Sarno 2001 Tumor necrosis factor-alpha promoter polymorphism TNF2 is associated with a stronger delayed-type hypersensitivity reaction in the skin of borderline tuberculoid leprosy patients Immunogenetics 53 45 47 1:CAS:528: DC%2BD3MXhsFSntLw%3D 10.1007/s002510000295 11261930 (Pubitemid 32209412)
29. MO Moraes AG Pacheco JJ Schonkeren PR Vanderborght JA Nery AR Santos ME Moraes JR Moraes TH Ottenhoff EP Sampaio TW Huizinga EN Sarno 2004 Interleukin-10 promoter single-nucleotide polymorphisms as markers for disease susceptibility and disease severity in leprosy Genes Immun 5 592 595 1:CAS:528:DC%2BD2cXovVKqtLk%3D 10.1038/sj.gene.6364122 15306847 (Pubitemid 39529977)
30. MO Moraes CC Cardoso PR Vanderborght AG Pacheco 2006 Genetics of host response in leprosy Lepr Rev 77 189 202 17171999
31. CFMH Nathan ME Wiebl BY Rubin 1983 Identification of interferon-gamma as the lymphokine that activates human macrophage oxidative metabolism and antimicrobial activity J Exp Med 158 170 10.1084/jem.158.3.670
32. AG Pacheco MO Moraes 2009 Genetic polymorphisms of infectious diseases in case-control studies Dis Markers 27 173 186 1:CAS:528:DC%2BD1MXhsFCiurbO 19893211
33. AG Pacheco CC Cardoso MO Moraes 2008 IFNG +874T/A, IL10-1082G/A and TNF -308G/A polymorphisms in association with tuberculosis susceptibility: a meta-analysis study Hum Genet 123 477 484 1:CAS:528:DC%2BD1cXmtVaisrs%3D 10.1007/s00439-008-0497-5 18414898
34. FC Parra RC Amado JR Lambertucci J Rocha CM Antunes SD Pena 2003 Color and genomic ancestry in Brazilians Proc Natl Acad Sci USA 100 177 182 1:CAS:528:DC%2BD3sXktlOgtg%3D%3D 10.1073/pnas.0126614100 12509516 (Pubitemid 36078048)
35. AC Pereira VN Brito-de-Souza CC Cardoso IM Dias-Baptista FP Parelli J Venturini FR Villani-Moreno AG Pacheco MO Moraes 2009 Genetic, epidemiological and biological analysis of interleukin-10 promoter single-nucleotide polymorphisms suggests a definitive role for -819C/T in leprosy susceptibility Genes Immun 10 174 180 1:CAS:528:DC%2BD1MXisFeltL4%3D 10.1038/gene.2008.97 19110537
36. VPC Pravica A Stevens JH Lee IV Hutchinson 2000 A single nucleotide polymorphism in the first intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production Hum Immunol 61 863 866 1:CAS:528:DC%2BD3cXosVWlu7s%3D 10.1016/S0198-8859(00)00167-1 11053629
37. R Development Core Team (2008) R: a language and environment for statistical computing. Vienna, Austria
38. NAL Ramasesh SG Franzblau JL Krahenbuhl 1991 Effects of activated macrophages on Mycobacterium leprae Infect Immun 59 2864 2869 1:STN:280:DyaK3MzkvVyhsw%3D%3D 1908824
39. DS Ridley WH Jopling 1962 A classification of leprosy for research purposes Lepr Rev 33 119 128 1:STN:280:DyaF38%2FptlKrug%3D%3D 14492126
40. MA Salih ME Ibrahim JM Blackwell EN Miller EA Khalil AM ElHassan AM Musa HS Mohamed 2007 IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan Genes Immun 8 75 78 1:CAS:528:DC%2BD2sXotFKisQ%3D%3D 10.1038/sj.gene.6364353 17136124 (Pubitemid 46158106)
41. N Sallakci M Coskun Z Berber F Gurkan H Kocamaz G Uysal S Bhuju U Yavuzer M Singh O Yegin 2007 Interferon-gamma gene +874T-A polymorphism is associated with tuberculosis and gamma interferon response Tuberculosis (Edinb) 87 225 230 1:CAS:528:DC%2BD2sXmtFelu7g%3D 10.1016/j.tube.2006.10.002 (Pubitemid 46551843)
42. AR Santos PN Suffys PR Vanderborght MO Moraes LM Vieira PH Cabello AM Bakker HJ Matos TW Huizinga TH Ottenhoff EP Sampaio EN Sarno 2002 Role of tumor necrosis factor-alpha and interleukin-10 promoter gene polymorphisms in leprosy J Infect Dis 186 1687 1691 1:CAS:528:DC%2BD38Xps1KrtLo%3D 10.1086/345366 12447749 (Pubitemid 35379650)
43. K Schroder PJ Hertzog T Ravasi DA Hume 2004 Interferon-gamma: an overview of signals, mechanisms and functions J Leukoc Biol 75 163 189 1:CAS:528:DC%2BD2cXhsFKntrk%3D 10.1189/jlb.0603252 14525967 (Pubitemid 38174573)
44. MA Shaw IJ Donaldson A Collins CS Peacock Z Lins-Lainson 2001 Association and linkage of leprosy phenotypes with HLA class II and tumour necrosis factor genes Genes Immun 2 196 204 1:CAS:528:DC%2BD3MXls1elsL8%3D 10.1038/sj.gene. 6363754 11477474 (Pubitemid 33676983)
45. ED Shields DA Russell MA Pericak-Vance 1987 Genetic epidemiology of the susceptibility to leprosy J Clin Invest 79 4 1139 1143 1:STN:280: DyaL2s7ms1Ogug%3D%3D 10.1172/JCI112930 3549780
46. PAWX Sieling MK Gately JL Oliveros T McHugh, et al. 1994 IL-12 regulates T helper type 1 cytokine responses in human infectious disease J Immunol 153 3639 3647 1:CAS:528:DyaK2cXmsFensbc%3D 7930584
47. E van de Vosse JT van Dissel TH Ottenhoff 2009 Genetic deficiencies of innate immune signalling in human infectious disease Lancet Infect Dis 9 688 698 10.1016/S1473-3099(09)70255-5 19850227
48. Vandenbroeck K, Goris A (2006) The IFNG-IL26-IL22 cytokine gene cluster. In: Vandenbroeck K (ed) Cytokine gene polymorphisms in multifactorial conditions, vol 1. CRC Press Taylor & Francis, Boca Raton, pp 157-174
49. PR Vanderborght AG Pacheco ME Moraes G Antoni M Romero A Verville VH Thai NT Huong NN Ba E Schurr EN Sarno MO Moraes 2007 HLA-DRB1*04 and DRB1*10 are associated with resistance and susceptibility, respectively, in Brazilian and Vietnamese leprosy patients Genes Immun 8 320 324 1:CAS:528:DC%2BD2sXmtFSjs7c%3D 10.1038/sj.gene.6364390 17396103 (Pubitemid 46888039)
50. M Vidyarani P Selvaraj S Prabhu Anand MS Jawahar AR Adhilakshmi PR Narayanan 2006 Interferon gamma (IFNgamma) & interleukin-4 (IL-4) gene variants & cytokine levels in pulmonary tuberculosis Indian J Med Res 124 403 410 1:CAS:528:DC%2BD2sXht1als7Y%3D 17159260
51. FRHW Zhang SM Chen LD Sun H Liu Y Li Y Cui XX Yan HT Yang RD Yang TS Chu C Zhang L Zhang JW Han GQ Yu C Quan YX Yu Z Zhang BQ Shi LH Zhang H Cheng CY Wang Y Lin HF Zheng XA Fu XB Zuo Q Wang H Long YP Sun YL Cheng HQ Tian FS Zhou HX Liu WS Lu SM He WL Du M Shen QY Jin Y Wang HQ Low T Erwin NH Yang JY Li X Zhao YL Jiao LG Mao G Yin ZX Jiang XD Wang JP Yu ZH Hu CH Gong YQ Liu RY Liu DM Wang D Wei JX Liu WK Cao HZ Cao YP Li WG Yan SY Wei KJ Wang ML Hibberd S Yang XJ Zhang JJ Liu 2009 Genomewide association study of leprosy N Engl J Med 361 2609 2618 1:CAS:528:DC%2BC3cXjsFSmtg%3D%3D 10.1056/NEJMoa0903753 20018961