P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population

Behavioral and Brain Functions

Volumn 9, Issue 1, 2013, Pages

  Ma, Qilin ^a   An, Xingkai ^a   Li, Zhiming ^b   Zhang, Huanjing ^b   Huang, Wenqing ^b   Cai, Liangliang ^b   Hu, Peng ^b   Lin, Qing ^a,b   Tzeng, Chi Meng ^b  

^a THE FIRST AFFILIATED HOSPITAL OF XIAMEN UNIVERSITY   (China)

^b XIAMEN UNIVERSITY   (China)

Author keywords

P268S; Parkinson's disease; Variants

Indexed keywords

ALPHA SYNUCLEIN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; LEUCINE RICH REPEAT KINASE 2; PARKIN;

ADULT; AGED; ARTICLE; CAPILLARY ELECTROPHORESIS; CASE CONTROL STUDY; CHINESE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84877030703     PISSN: None     EISSN: 17449081     Source Type: Journal    
DOI: 10.1186/1744-9081-9-19     Document Type: Article

References (49)

1. Zhang ZX, Roman GC, Hong Z, Wu CB, Qu QM, Huang JB, Zhou B, Geng ZP, Wu JX, Wen HB. Parkinson's disease in China: prevalence in Beijing, Xian, and Shanghai. Lancet 2005, 365(9459):595-597.
2. Fahn S. Description of Parkinson's disease as a clinical syndrome. Ann N Y Acad Sci 2003, 991:1-14.
3. Forno LS. Neuropathology of Parkinson's disease. J Neuropathol Exp Neurol 1996, 55(3):259-272.
4. Dauer W, Przedborski S. Parkinson's disease: mechanisms and models. Neuron 2003, 39(6):889-909. 10.1016/S0896-6273(03)00568-3, 12971891.
5. Dawson TM, Dawson VL. Molecular pathways of neurodegeneration in Parkinson's disease. Science 2003, 302(5646):819-822. 10.1126/science.1087753, 14593166.
6. Cookson MR. The biochemistry of Parkinson's disease. Annu Rev Biochem 2005, 74:29-52. 10.1146/annurev.biochem.74.082803.133400, 15952880.
7. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997, 276(5321):2045-2047. 10.1126/science.276.5321.2045, 9197268.
8. Zarranz JJ, Alegre J, Gomez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atares B. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 2004, 55(2):164-173. 10.1002/ana.10795, 14755719.
9. Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, Przuntek H, Epplen JT, Schols L, Riess O. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998, 18(2):106-108. 10.1038/ng0298-106, 9462735.
10. Chan DK, Mellick G, Cai H, Wang XL, Ng PW, Pang CP, Woo J, Kay R. The alpha-synuclein gene and Parkinson disease in a Chinese population. Arch Neurol 2000, 57(4):501-503. 10.1001/archneur.57.4.501, 10768624.
11. Mata IF, Wedemeyer WJ, Farrer MJ, Taylor JP, Gallo KA. LRRK2 in Parkinson's disease: protein domains and functional insights. Trends Neurosci 2006, 29(5):286-293. 10.1016/j.tins.2006.03.006, 16616379.
12. Tan EK, Shen H, Tan LC, Farrer M, Yew K, Chua E, Jamora RD, Puvan K, Puong KY, Zhao Y. The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. Neurosci Lett 2005, 384(3):327-329. 10.1016/j.neulet.2005.04.103, 15955629.
13. Funayama M, Li Y, Tomiyama H, Yoshino H, Imamichi Y, Yamamoto M, Murata M, Toda T, Mizuno Y, Hattori N. Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 2007, 18(3):273-275. 10.1097/WNR.0b013e32801254b6, 17314670.
14. Huang Y, Halliday GM, Vandebona H, Mellick GD, Mastaglia F, Stevens J, Kwok J, Garlepp M, Silburn PA, Horne MK. Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease. Mov Disord 2007, 22(7):982-989. 10.1002/mds.21477, 17427941.
15. Lucking CB, Durr A, Bonifati V, Vaughan J, Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000, 342(21):1560-1567. 10.1056/NEJM200005253422103, 10824074.
16. Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000, 25(3):302-305. 10.1038/77060, 10888878.
17. Mata IF, Lockhart PJ, Farrer MJ. Parkin genetics: one model for Parkinson's disease. Hum Mol Genet 2004, 13:R127-R133. Spec No 1, 10.1093/hmg/ddh089, 14976155.
18. Wu YR, Wu CH, Chao CY, Kuan CC, Zhang WL, Wang CK, Chang CY, Chang YC, Lee-Chen GJ, Chen CM. Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD. Am J Med Genet B Neuropsychiatr Genet 2010, 153B(1):229-234.
19. Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisan-Ruiz C. Genetic variability at the PARK16 locus. Eur J Hum Genet 2010, 18(12):1356-1359. 10.1038/ejhg.2010.125, 3002857, 20683486.
20. Kolisek M, Launay P, Beck A, Sponder G, Serafini N, Brenkus M, Froschauer EM, Martens H, Fleig A, Schweigel M. SLC41A1 is a novel mammalian Mg2+ carrier. J Biol Chem 2008, 283(23):16235-16247. 10.1074/jbc.M707276200, 2414286, 18367447.
21. Wyss-Coray T, Mucke L. Inflammation in neurodegenerative disease-a double-edged sword. Neuron 2002, 35(3):419-432. 10.1016/S0896-6273(02)00794-8, 12165466.
22. McGeer PL, McGeer EG. Inflammation and neurodegeneration in Parkinson's disease. Parkinsonism Relat Disord 2004, 10(Suppl 1):S3-S7.
23. Kim YS, Joh TH. Microglia, major player in the brain inflammation: their roles in the pathogenesis of Parkinson's disease. Exp Mol Med 2006, 38(4):333-347. 10.1038/emm.2006.40, 16953112.
24. Hakansson A, Westberg L, Nilsson S, Buervenich S, Carmine A, Holmberg B, Sydow O, Olson L, Johnels B, Eriksson E. Interaction of polymorphisms in the genes encoding interleukin-6 and estrogen receptor beta on the susceptibility to Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2005, 133B(1):88-92. 10.1002/ajmg.b.30136, 15635591.
25. Kaltschmidt B, Heinrich M, Kaltschmidt C. Stimulus-dependent activation of NF-kappaB specifies apoptosis or neuroprotection in cerebellar granule cells. Neuromolecular Med 2002, 2(3):299-309. 10.1385/NMM:2:3:299, 12622408.
26. Hirsch EC, Hunot S. Neuroinflammation in Parkinson's disease: a target for neuroprotection?. Lancet Neurol 2009, 8(4):382-397. 10.1016/S1474-4422(09)70062-6, 19296921.
27. Inohara N, Nunez G. NODs: intracellular proteins involved in inflammation and apoptosis. Nat Rev Immunol 2003, 3(5):371-382. 10.1038/nri1086, 12766759.
28. Bialecka M, Kurzawski M, Klodowska-Duda G, Opala G, Juzwiak S, Kurzawski G, Tan EK, Drozdzik M. CARD15 variants in patients with sporadic Parkinson's disease. Neurosci Res 2007, 57(3):473-476. 10.1016/j.neures.2006.11.012, 17174426.
29. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992, 55(3):181-184. 10.1136/jnnp.55.3.181, 1014720, 1564476.
30. An XK, Peng R, Li T, Burgunder JM, Wu Y, Chen WJ, Zhang JH, Wang YC, Xu YM, Gou YR. LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China. Eur J Neurol 2008, 15(3):301-305. 10.1111/j.1468-1331.2007.02052.x, 18201193.
31. Abou-Sleiman PM, Muqit MM, McDonald NQ, Yang YX, Gandhi S, Healy DG, Harvey K, Harvey RJ, Deas E, Bhatia K. A heterozygous effect for PINK1 mutations in Parkinson's disease?. Ann Neurol 2006, 60(4):414-419. 10.1002/ana.20960, 16969854.
32. Klein C. Implications of genetics on the diagnosis and care of patients with Parkinson disease. Arch Neurol 2006, 63(3):328-334. 10.1001/archneur.63.3.328, 16533959.
33. Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002, 58(8):1239-1246. 10.1212/WNL.58.8.1239, 11971093.
34. Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006, 63(6):826-832. 10.1001/archneur.63.6.826, 16769863.
35. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007, 6(7):652-662. 10.1016/S1474-4422(07)70174-6, 17582365.
36. Matsuda N, Kitami T, Suzuki T, Mizuno Y, Hattori N, Tanaka K. Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro. J Biol Chem 2006, 281(6):3204-3209.
37. Wan-Ling Zhang C-HW, Tsu-Wei W, Lee-Chen G-J. Functional Analysis of Parkin Gene Intron 9 g > a SNP. Bio Formosa 2010, 45(1):31-38.
38. Hunot S, Brugg B, Ricard D, Michel PP, Muriel MP, Ruberg M, Faucheux BA, Agid Y, Hirsch EC. Nuclear translocation of NF-kappaB is increased in dopaminergic neurons of patients with parkinson disease. Proc Natl Acad Sci USA 1997, 94(14):7531-7536. 10.1073/pnas.94.14.7531, 23856, 9207126.
39. Gao M, Cao Q, Luo LH, Wu ML, Hu WL, Hu WL, Si JM. [NOD2/CARD15 gene polymorphisms and susceptibility to Crohn's disease in Chinese Han population]. Zhonghua Nei Ke Za Zhi 2005, 44(3):210-212.
40. Croucher PJ, Mascheretti S, Hampe J, Huse K, Frenzel H, Stoll M, Lu T, Nikolaus S, Yang SK, Krawczak M. Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet 2003, 11(1):6-16. 10.1038/sj.ejhg.5200897, 12529700.
41. Yamazaki K, Takazoe M, Tanaka T, Kazumori T, Nakamura Y. Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease. J Hum Genet 2002, 47(9):469-472. 10.1007/s100380200067, 12202985.
42. Leong RW, Armuzzi A, Ahmad T, Wong ML, Tse P, Jewell DP, Sung JJ. NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population. Aliment Pharmacol Ther 2003, 17(12):1465-1470. 10.1046/j.1365-2036.2003.01607.x, 12823148.
43. Lv C, Yang X, Zhang Y, Zhao X, Chen Z, Long J, Zhong C, Zhi J, Yao G, Jiang B. Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort. Int J Colorectal Dis 2012, 27(11):1465-1472. 10.1007/s00384-012-1450-6, 22426692.
44. Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J Biol Chem 2001, 276(7):4812-4818. 10.1074/jbc.M008072200, 11087742.
45. Inohara N, Ogura Y, Fontalba A, Gutierrez O, Pons F, Crespo J, Fukase K, Inamura S, Kusumoto S, Hashimoto M. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease. J Biol Chem 2003, 278(8):5509-5512. 10.1074/jbc.C200673200, 12514169.
46. Bonen DK, Ogura Y, Nicolae DL, Inohara N, Saab L, Tanabe T, Chen FF, Foster SJ, Duerr RH, Brant SR. Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Gastroenterology 2003, 124(1):140-146. 10.1053/gast.2003.50019, 12512038.
47. Chamaillard M, Philpott D, Girardin SE, Zouali H, Lesage S, Chareyre F, Bui TH, Giovannini M, Zaehringer U, Penard-Lacronique V. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci USA 2003, 100(6):3455-3460. 10.1073/pnas.0530276100, 152314, 12626759.
48. Crane AM, Bradbury L, Van Heel DA, McGovern DP, Brophy S, Rubin L, Siminovitch KA, Wordsworth BP, Calin A, Brown MA. Role of NOD2 variants in spondylarthritis. Arthritis Rheum 2002, 46(6):1629-1633. 10.1002/art.10329, 12115195.
49. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001, 411(6837):603-606. 10.1038/35079114, 11385577.