Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China

Genes and Immunity

Volumn 16, Issue 2, 2015, Pages 112-119

  Wang, D ^a   Xu, L ^a,b   Lv, L ^a,b   Su, L Y ^a,b   Fan, Y ^a,b   Zhang, D F ^a,b   Bi, R ^a,b   Yu, D ^a   Zhang, W ^a   Li, X A ^c   Li, Y Y ^d   Yao, Y G ^a  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

^c Yuxi City Center for Disease Control and Prevention   (China)

^d KUNMING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

1,2,3,6 TETRAHYDRO 1 METHYL 4 PHENYLPYRIDINE; GENOMIC DNA; LEUCINE RICH REPEAT KINASE 2; LIPOPOLYSACCHARIDE; TRANSCRIPTION FACTOR NFAT; LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOPHAGY; CHILD; CHINA; COMPARATIVE STUDY; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAN CHINESE; HAPLOTYPE; HEK293 CELL LINE; HUMAN; IMMUNE RESPONSE; LEPROSY; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MYCOBACTERIUM LEPRAE; NEUROBLASTOMA CELL; NEUROTOXICITY; PAUCIBACILLARY LEPROSY; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STABLE EXPRESSION; ASIAN CONTINENTAL ANCESTRY GROUP; CASE CONTROL STUDY; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

MYCOBACTERIUM LEPRAE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LEPROSY; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; YOUNG ADULT;

EID: 84938556295     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2014.72     Document Type: Article

References (50)

1. Britton WJ, Lockwood DN. Leprosy. Lancet 2004; 363: 1209-1219.
2. WHO. Leprosy update 2011. Wkly Epidemiol Rec 2011; 86: 389-399.
3. Scollard DM, Adams LB, Gillis TP, Krahenbuhl JL, Truman RW, Williams DL. The continuing challenges of leprosy. Clin Microbiol Rev 2006; 19: 338-381.
4. Worobec SM. Treatment of leprosy/Hansen's disease in the early 21st century. Dermatol Ther 2009; 22: 518-537.
5. Johnson CM, Lyle EA, Omueti KO, Stepensky VA, Yegin O, Alpsoy E et al. Cutting edge: a common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy. J Immunol 2007; 178: 7520-7524.
6. Zhang FR, Huang W, Chen SM, Sun LD, Liu H, Li Y et al. Genomewide association study of leprosy. N Engl J Med 2009; 361: 2609-2618.
7. Misch EA, Berrington WR, Vary JC Jr., Hawn TR. Leprosy and the human genome. Microbiol Mol Biol Rev 2010; 74: 589-620.
8. Yang D, Song H, Xu W, Long H, Shi C, Jing Z et al. Interleukin 4-590T/C polymorphism and susceptibility to leprosy. Genet Test Mol Biomarkers 2011; 15: 877-881.
9. Sousa AL, Fava VM, Sampaio LH, Martelli CM, Costa MB, Mira MT et al. Genetic and immunological evidence implicates interleukin 6 as a susceptibility gene for leprosy type 2 reaction. J Infect Dis 2012; 205: 1417-1424.
10. Cardoso CC, Pereira AC, Brito-de-Souza VN, Duraes SM, Ribeiro-Alves M, Nery JA et al. TNF -308G4A single nucleotide polymorphism is associated with leprosy among Brazilians: a genetic epidemiology assessment, meta-analysis, and functional study. J Infect Dis 2011; 204:: 1256-63.
11. Sapkota BR, Macdonald M, Berrington WR, Misch EA, Ranjit C, Siddiqui MR et al. Association of TNF, MBL, and VDR polymorphisms with leprosy phenotypes. Hum Immunol 2010; 71: 992-998.
12. Alter A, de Léséleuc L, Van Thuc N, Thai VH, Huong NT, Ba NN et al. Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility. Hum Genet 2010; 127: 337-348.
13. Cardoso CC, Pereira AC, Brito-de-Souza VN, Dias-Baptista IM, Maniero VC, Venturini J et al. IFNG +874 T4A single nucleotide polymorphism is associated with leprosy among Brazilians. Hum Genet 2010; 128: 481-490.
14. Wang D, Feng J-Q, Li Y-Y, Zhang D-F, Li X-A, Li QW et al. Genetic variants of the MRC1 gene and the IFNG gene are associated with leprosy in Han Chinese from Southwest China. Hum Genet 2012; 131: 1251-1260.
15. Zhang D-F, Huang X-Q, Wang D, Li Y-Y, Yao Y-G. Genetic variants of complement genes ficolin-2, mannose-binding lectin and complement factor H are associated with leprosy in Han Chinese from Southwest China. Hum Genet 2013; 132: 629-640.
16. Zhang D-F, Wang D, Li Y-Y, Yao Y-G. Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese. Genes Immun 2014; 15: 506-510.
17. Gardet A, Benita Y, Li C, Sands BE, Ballester I, Stevens C et al. LRRK2 is involved in the IFN-gamma response and host response to pathogens. J Immunol 2010; 185: 5577-5585.
18. Mata IF, Wedemeyer WJ, Farrer MJ, Taylor JP, Gallo KA. LRRK2 in Parkinson's disease: protein domains and functional insights. Trends Neurosci 2006; 29: 286-293.
19. Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004; 44: 595-600.
20. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004; 44: 601-607.
21. Recchia A, Debetto P, Negro A, Guidolin D, Skaper SD, Giusti P. Alpha-synuclein and Parkinson's disease. FASEB J 2004; 18: 617-626.
22. Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40: 955-962.
23. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G et al. Patterns of somatic mutation in human cancer genomes. Nature 2007; 446: 153-158.
24. Tong Y, Giaime E, Yamaguchi H, Ichimura T, Liu Y, Si H et al. Loss of leucine-rich repeat kinase 2 causes age-dependent bi-phasic alterations of the autophagy pathway. Mol Neurodegener 2012; 7: 2.
25. Plowey ED, Cherra SJ 3rd, Liu YJ, Chu CT. Role of autophagy in G2019S-LRRK2-associated neurite shortening in differentiated SH-SY5Y cells. J Neurochem 2008; 105: 1048-1056.
26. Liu Z, Lee J, Krummey S, Lu W, Cai H, Lenardo MJ. The kinase LRRK2 is a regulator of the transcription factor NFAT that modulates the severity of inflammatory bowel disease. Nat Immunol 2011; 12: 1063-1070.
27. Moehle MS, Webber PJ, Tse T, Sukar N, Standaert DG, DeSilva TM et al. LRRK2 inhibition attenuates microglial inflammatory responses. J Neurosci 2012; 32: 1602-1611.
28. Bi R, Zhao L, Zhang C, Lu W, Feng J-Q, Wang Y et al. No association of the LRRK2 genetic variants with Alzheimer's disease in Han Chinese individuals. Neurobiol Aging 2014; 35: 444. e5-e9.
29. Li X, Zhang W, Zhang C, Gong W, Tang J, Yi Z et al. No association between genetic variants of the LRRK2 gene and schizophrenia in Han Chinese. Neurosci Lett 2014; 566: 210-215.
30. Zhu JH, Horbinski C, Guo F, Watkins S, Uchiyama Y, Chu CT. Regulation of autophagy by extracellular signal-regulated protein kinases during 1-methyl-4-phenylpyridinium-induced cell death. Am J Pathol 2007; 170: 75-86.
31. Bravo-San Pedro JM, Niso-Sántano M, Gómez-Sánchez R, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A et al. The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway. Cell Mol Life Sci 2013; 70: 121-136.
32. Marcinek P, Jha AN, Shinde V, Sundaramoorthy A, Rajkumar R, Suryadevara NC et al. LRRK2 and RIPK2 variants in the NOD 2-mediated signaling pathway are associated with susceptibility to Mycobacterium leprae in Indian populations. PLoS One 2013; 8: e73103.
33. Smith WW, Pei Z, Jiang H, Moore DJ, Liang Y, West AB et al. Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc Natl Acad Sci USA 2005; 102: 18676-18681.
34. Alegre-Abarrategui J, Christian H, Lufino MM, Mutihac R, Venda LL, Ansorge O et al. LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model. Hum Mol Genet 2009; 18: 4022-4034.
35. Saha S, Guillily MD, Ferree A, Lanceta J, Chan D, Ghosh J et al. LRRK2 modulates vulnerability to mitochondrial dysfunction in Caenorhabditis elegans. J Neurosci 2009; 29: 9210-9218.
36. Lewis PA, Manzoni C. LRRK2 and human disease: a complicated question or a question of complexes? Sci Signal 2012; 5: pe2.
37. Watson SR, Morrison NE, Collins FM. Delayed hypersensitivity responses in mice and Guinea pigs to Mycobacterium leprae, Mycobacterium vaccae, and Mycobacterium nonchromogenicum cytoplasmic proteins. Infect Immun 1979; 25: 229-236.
38. Wang HY, Liu JH, Ye SZ, Yu LC, Shi MQ, Sang HG. Preliminary observations on experimental leprosy in tupaias (Tupaia belangeri yunalis). Leprosy Rev 1990; 61: 12-18.
39. Wang D, Su L-Y, Zhang A-M, Li YY, Li XA, Chen LL et al. Mitochondrial DNA copy number, but not haplogroup, confers a genetic susceptibility to leprosy in Han Chinese from Southwest China. PLoS One 2012; 7: e38848.
40. Orenstein SJ, Kuo SH, Tasset I, Arias E, Koga H, Fernandez-Carasa I et al. Interplay of LRRK2 with chaperone-mediated autophagy. Nat Neurosci 2013; 16: 394-406.
41. Manzoni C, Mamais A, Dihanich S, Abeti R, Soutar MP, Plun-Favreau H et al. Inhibition of LRRK2 kinase activity stimulates macroautophagy. Biochim Biophys Acta 2013; 1833: 2900-2910.
42. Zhu Y, Wang C, Yu M, Cui J, Liu L, Xu Z. ULK1 and JNK are involved in mitophagy incurred by LRRK2 G2019S expression. Protein Cell 2013; 4: 711-721.
43. Bandopadhyay R, de Belleroche J. Pathogenesis of Parkinson's disease: emerging role of molecular chaperones. Trends Mol Med 2010; 16: 27-36.
44. Wong AS, Lee RH, Cheung AY, Yeung PK, Chung SK, Cheung ZH et al. Cdk5-mediated phosphorylation of endophilin B1 is required for induced autophagy in models of Parkinson's disease. Nat Cell Biol 2011; 13: 568-579.
45. Jorgensen ND, Peng Y, Ho CC, Rideout HJ, Petrey D, Liu P et al. The WD40 domain is required for LRRK2 neurotoxicity. PLoS One 2009; 4: e8463.
46. Sheng D, Qu D, Kwok KH, Ng SS, Lim AY, Aw SS et al. Deletion of the WD40 domain of LRRK2 in Zebrafish causes Parkinsonism-like loss of neurons and locomotive defect. PLoS Genet 2010; 6: e1000914.
47. Li Y-Y, Li X-A, He L, Wang D, Chen WY, Chen L et al. Trends in new leprosy case detection over 57 years (1952-2008) in Yuxi, Yunnan Province of Southwest China. Leprosy Rev 2011; 82: 6-16.
48. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265.
49. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989.
50. Gauderman WJ. Sample size requirements for matched case-control studies of gene-environment interaction. Stat Med 2002; 21: 35-50.