Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations

Tuberculosis

Volumn 95, Issue 2, 2015, Pages 204-207

  Rudko, Alexey A ^a   Garaeva, Anna F ^a   Bragina, Elena Yu ^a   Babushkina, Nadezda P ^a   Kolokolova, Olga V ^b   Lipaenkova, Olga N ^b   Puzyrev, Valery P ^a,b   Freidin, Maxim B ^a  

^a RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

^b SIBERIAN STATE MEDICAL UNIVERSITY   (Russian Federation)

Author keywords

Atypical mycobacteriosis; Common susceptibility; Genetic polymorphism; Mendelian susceptibility; Tuberculosis

Indexed keywords

BCG VACCINE; GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR 1; INTERLEUKIN 12; STAT1 PROTEIN; GAMMA INTERFERON RECEPTOR; IFNGR2 PROTEIN, HUMAN; IL12B PROTEIN, HUMAN; IL12RB1 PROTEIN, HUMAN; INTERFERON RECEPTOR; INTERLEUKIN 12 RECEPTOR; INTERLEUKIN 12P40; STAT1 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; ATYPICAL MYCOBACTERIOSIS; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PENETRANCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUBERCULOSIS; ADOLESCENT; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; YOUNG ADULT;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERLEUKIN-12 SUBUNIT P40; MALE; MIDDLE AGED; MUTATION; MYCOBACTERIUM INFECTIONS, NONTUBERCULOUS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, INTERFERON; RECEPTORS, INTERLEUKIN-12; STAT1 TRANSCRIPTION FACTOR; TUBERCULOSIS; YOUNG ADULT;

EID: 84925017834     PISSN: 14729792     EISSN: 1873281X     Source Type: Journal    
DOI: 10.1016/j.tube.2015.01.002     Document Type: Article

References (24)

1. A. Cobat, M. Orlova, L.F. Barrera, and E. Schurr Host genomics and control of tuberculosis infection Public Health Genomics 16 2013 44 49 10.1159/000341499
2. A.V.S. Hill Evolution, revolution and heresy in the genetics of infectious disease susceptibility Phil Trans R Soc B 367 2012 840 849 10.1098/rstb.2011.0275
3. M. Möller, E. de Wit, and E.G. Hoal Past, present and future directions in human genetic susceptibility to tuberculosis FEMS Immunol Med Microbiol 2 2009 1 24 10.1111/j.1574-695X.2009.00600.x
4. A. Fortin, L. Abel, J.L. Casanova, and P. Gros Host genetics of mycobacterial diseases and men: forward genetic studies of BCG-osis and tuberculosis Annu Rev Genomics Hum Genet 8 2007 163 192 10.1146/annurev.genom.8.080706.092315
5. T.H.M. Ottenhoff, F.A.W. Verreck, M.A. Hoeve, and E. van de Vosse Control of human host immunity to mycobacteria Tuberculosis 85 2005 53 64 10.1016/j.tube.2004.09.011
6. A. Hamosh, A.F. Scott, J.S. Amberger, C.A. Bocchini, and V.A. McKusick Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders Nucleic Acids Res 33 Suppl. 1 2005 D514 D517 10.1093/nar/gki033
7. O. Filipe-Santos, J. Bustamante, M.H. Haverkamp, E. Vinolo, C.L. Ku, and A. Puel X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production J Exp Med 203 2006 1745 1759 10.1084/jem.20060085
8. J. Bustamante, S. Boisson-Dupuis, L. Abel, and J.-L. Casanova Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity Semin Immunol 26 2014 454 470 10.1016/j.smim.2014.09.008
9. S. Al-Muhsen, and J.-L. Casanova The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases J Allergy Clin Immunol 122 2008 1043 1051 10.1016/j.jaci.2008.10.037
10. S. Salem, and P. Gros Genetic determinants of susceptibility to mycobacterial infections: IRF8, a new kid on the block Adv Exp Med Biol 783 2013 45 80 10.1007/978-1-4614-6111-1-3
11. A. Alcais, C. Fieschi, L. Abel, and J.L. Casanova Tuberculosis in children and adults: two distinct genetic diseases J Exp Med 202 2005 1617 1621 10.1084/jem.20052302
12. S. Boisson-Dupuis, J. El-Baghdadi, and N. Parvaneh IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey PLoS One 6 2011;13 e18524 10.1371/journal.pone.0018524
13. J.R. González, L. Armengol, X. Solé, E. Guinó, J.M. Mercader, X. Estivill, and V. Moreno SNPassoc: an R package to perform whole genome association studies Bioinformatics 23 2007 644 645 10.1093/bioinformatics/btm025
14. A. Grant, J. El-Baghdadi, and A. Sabri Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region Am J Hum Genet 92 2013 407 414 10.1016/j.ajhg.2013.01.013
15. D. Bogunovic, M. Byun, and L. Durfee Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency Science 337 2012 1684 1688 10.1126/science.1224026
16. J. Bustamante, C. Picard, S. Boisson-Dupuis, L. Abel, and J.L. Casanova Genetic lesson learnt from X-linked Mendelian susceptibility to mycobacterial diseases Ann N Y Acad Sci 1246 2011 92 101 10.1111/j.1749-6632.2011.06273.x
17. S. Hambleton, S. Salem, and J. Bustamante IRF8 mutations and human dendritic-cell immunodeficiency N Engl J Med 365 2011 127 138 10.1056/NEJMoa1100066
18. T. Thye, F. Vannberg, and S. Wong Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2 Nat Genet 42 2010 739 741 10.1038/ng.639
19. E. Png, B. Alisjahbana, and E. Sahiratmadja A genome-wide association study of pulmonary tuberculosis susceptibility in Indonesians BMC Med Genet 5 2012 13 10.1186/1471-2350-13-5
20. T. Thye, E. Owusu-Dado, and F. Vannberg Common variants at 11p13 are associated with susceptibility to tuberculosis Nat Genet 44 2012 257 259 10.1038/ng.1080
21. S. Mahasirimongkol, H. Yanai, and T. Mushiroda Genome-wide association studies of tuberculosis in Asians identify at-risk locus for young tuberculosis J Hum Genet 57 2012 363 367 10.1038/jhg.2012.35
22. E. Chimusa, N. Zaitlen, and M. Daya Genome-wide association study of ancestry-specific TB risk in the South African Coloured population Hum Mol Genet 23 2014 796 809 10.1093/hmg/ddt462
23. M. Möller, and E. Hoal Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis Tuberculosis 90 2010 71 83 10.1016/j.tube.2010.02.002
24. A. Azad, W. Sadee, and L. Schlesinger Innate immune gene polymorphisms in tuberculosis Infect Immun 80 2012 3343 3359 10.1128/IAI.00443-12