Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

Nature Genetics

Volumn 47, Issue 5, 2015, Pages 523-527

  Curtis, James ^a   Luo, Yang ^b   Zenner, Helen L ^a   Cuchet Lourenço, Delphine ^a   Wu, Changxin ^a   Lo, Kitty ^c   Maes, Mailis ^a   Alisaac, Ali ^a   Stebbings, Emma ^a   Liu, Jimmy Z ^b   Kopanitsa, Liliya ^a   Ignatyeva, Olga ^d   Balabanova, Yanina ^e,f,g   Nikolayevskyy, Vladyslav ^f,g,h   Baessmann, Ingelore ⁱ   Thye, Thorsten ^j   Meyer, Christian G ^j   Nürnberg, Peter ^i,k   Horstmann, Rolf D ^j   Drobniewski, Francis ^f,g,h   Plagnol, Vincent ^c   Barrett, Jeffrey C ^b   Nejentsev, Sergey ^a   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d Samara Oblast Tuberculosis Dispensary   (Russian Federation)

^e ROBERT KOCH INSTITUTE   (Germany)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

^g QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^h PUBLIC HEALTH ENGLAND   (United Kingdom)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

^k UNIVERSITY OF COLOGNE   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ASAP1 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; ASAP1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; ARTICLE; CELL MIGRATION; CHROMOSOME 8Q; CHROMOSOME 8Q24; COHORT ANALYSIS; CONTROLLED STUDY; DENDRITIC CELL; DISEASE PREDISPOSITION; FEMALE; FOLLOW UP; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITY; HUMAN; HUMAN CELL; LUNG TUBERCULOSIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MYCOBACTERIUM TUBERCULOSIS; PATHOPHYSIOLOGY; PODOCYTE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; CELL CULTURE; CELL MOTION; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; INTRON; METABOLISM; PHYSIOLOGY; PROTEIN TRANSPORT;

MYCOBACTERIUM TUBERCULOSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CASE-CONTROL STUDIES; CELL MOVEMENT; CELLS, CULTURED; DENDRITIC CELLS; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRONS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; TUBERCULOSIS, PULMONARY;

EID: 84929133989     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3248     Document Type: Article

References (31)

1. Zumla, A., Raviglione, M., Hafner, R. & von Reyn, C.F. Tuberculosis. N. Engl. J. Med. 368, 745-755 (2013
2. Möller, M. & Hoal, E.G. Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis. Tuberculosis (Edinb.) 90, 71-83 (2010
3. Apt, A. & Kramnik, I. Man and mouse TB: contradictions and solutions. Tuberculosis (Edinb.) 89, 195-198 (2009
4. Thye, T. et al. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. Nat. Genet. 42, 739-741 (2010
5. Thye, T. et al. Common variants at 11p13 are associated with susceptibility to tuberculosis. Nat. Genet. 44, 257-259 (2012
6. Chimusa, E.R. et al. Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. Hum. Mol. Genet. 23, 796-809 (2014
7. Zhang, F.R. et al. Genome-wide association study of leprosy. N. Engl. J. Med. 361, 2609-2618 (2009
8. Zhang, F. et al. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Nat. Genet. 43, 1247-1251 (2011
9. Jostins, L. et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491, 119-124 (2012
10. Nie, Z. & Randazzo, P.A. Arf GAPs and membrane traffic. J. Cell Sci. 119, 1203-1211 (2006
11. Randazzo, P.A., Inoue, H. & Bharti, S. Arf GAPs as regulators of the actin cytoskeleton. Biol. Cell 99, 583-600 (2007
12. Murphy, D.A. & Courtneidge, S.A. The 'ins Eand 'outs Eof podosomes and invadopodia: characteristics, formation and function. Nat. Rev. Mol. Cell Biol. 12, 413-426 (2011
13. Bharti, S. et al. Src-dependent phosphorylation of ASAP1 regulates podosomes. Mol. Cell. Biol. 27, 8271-8283 (2007
14. Lin, D. et al. ASAP1, a gene at 8q24, is associated with prostate cancer metastasis. Cancer Res. 68, 4352-4359 (2008
15. Onodera, Y. et al. Expression of AMAP1, an ArfGAP, provides novel targets to inhibit breast cancer invasive activities. EMBO J. 24, 963-973 (2005
16. Ehlers, J.P., Worley, L., Onken, M.D. & Harbour, J.W. DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma. Clin. Cancer Res. 11, 3609-3613 (2005
17. Müller, T. et al. ASAP1 promotes tumor cell motility and invasiveness, stimulates metastasis formation in vivo, and correlates with poor survival in colorectal cancer patients. Oncogene 29, 2393-2403 (2010
18. Lin, P.L. et al. Sterilization of granulomas is common in active and latent tuberculosis despite within-host variability in bacterial killing. Nat. Med. 20, 75-79 (2014
19. Ernst, J.D. The immunological life cycle of tuberculosis. Nat. Rev. Immunol. 12, 581-591 (2012
20. Wolf, A.J. et al. Mycobacterium tuberculosis infects dendritic cells with high frequency and impairs their function in vivo. J. Immunol. 179, 2509-2519 (2007
21. Wolf, A.J. et al. Initiation of the adaptive immune response to Mycobacterium tuberculosis depends on antigen production in the local lymph node, not the lungs. J. Exp. Med. 205, 105-115 (2008
22. Roberts, L.L. & Robinson, C.M. Mycobacterium tuberculosis infection of human dendritic cells decreases integrin expression, adhesion and migration to chemokines. Immunology 141, 39-51 (2014
23. Barreiro, L.B. et al. Deciphering the genetic architecture of variation in the immune response to Mycobacterium tuberculosis infection. Proc. Natl. Acad. Sci. USA 109, 1204-1209 (2012
24. Szeszko, J.S. et al. Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis. Hum. Genet. 121, 155-160 (2007
25. Korn, J.M. et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat. Genet. 40, 1253-1260 (2008
26. Howie, B.N., Donnelly, P. & Marchini, J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009
27. Howie, B., Marchini, J & Stephens, M. Genotype imputation with thousands of genomes. G3 1, 457-470 (2012
28. Marchini, J. & Howie, B. Genotype imputation for genome-wide association studies. Nat. Rev. Genet. 11, 499-511 (2010
29. Maller, J.B. et al. Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat. Genet. 44, 1294-1301 (2012
30. Howie, B., Fuchsberger, C., Stephens, M., Marchini, J. & Abecasis, G.R. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat. Genet. 44, 955-959 (2012
31. Götz, A. & Jessberger, R. Dendritic cell podosome dynamics does not depend on the F-Actin regulator SWAP-70. PLoS ONE 8, e60642 (2013