Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson's disease among North Indians

Pharmacogenetics and Genomics

Volumn 20, Issue 7, 2010, Pages 435-441

  Punia, Sohan ^a   Das, Mitashree ^a,b   Behari, Madhuri ^c   Mishra, Bikash K ^c   Sahani, Asish K ^c   Govindappa, Shyla T ^d   Jayaram, Sachi ^d   Muthane, Uday B ^d   Thelma, B K ^a   Juyal, Ramesh C ^b  

^a UNIVERSITY OF DELHI   (India)

^b NATIONAL INSTITUTE OF IMMUNOLOGY   (India)

^c ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^d NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

case control association; dopamine b hydroxylase; dopaminergic pathway; North Indian population; Parkinson's disease

Indexed keywords

DOPAMINE; DOPAMINE BETA MONOOXYGENASE; LEVODOPA;

3' UNTRANSLATED REGION; ADULT; ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DBH GENE; DISEASE SEVERITY; DOPAMINE METABOLISM; DOPAMINERGIC SYSTEM; DRD4 GENE; DRUG EFFICACY; FEMALE; GENE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HOEHN AND YAHR SCALE; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; RATING SCALE; SINGLE NUCLEOTIDE POLYMORPHISM; UNIFIED PARKINSON DISEASE RATING SCALE; DEMOGRAPHY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; MULTIVARIATE ANALYSIS; STATISTICAL MODEL;

DEMOGRAPHY; DOPAMINE; DOPAMINE BETA-HYDROXYLASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INDIA; LOGISTIC MODELS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77953913108     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e32833ad3bb     Document Type: Article

References (45)

1. Rossini PM, Rossi S, Babiloni C, Polich J. Clinical neurophysiology of aging brain: from normal aging to neurodegeneration. Prog Neurobiol 2007; 83:375-400.
2. Huang Y, Cheung L, Rowe D, Halliday G. Genetic contributions to Parkinson's disease. Brain Res Brain Res Rev 2004; 46:44-70.
3. Lang AE, Lozano AM. Parkinson's disease. First of two parts. N Engl J Med 1998; 339:1044-1053.
4. Farrer MJ. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 2006; 7:306-318.
5. Tan EK, Khajavi M, Thornby JI, Nagamitsu S, Jankovic J, Ashizawa T. Variability and validity of polymorphism association studies in Parkinson's disease. Neurology 2000; 55:533-538.
6. Gilgun-Sherki Y, Djaldetti R, Melamed E, Offen D. Polymorphism in candidate genes: implications for the risk and treatment of idiopathic Parkinson's disease. Pharmacogenomics J 2004; 4:291-306.
7. Riedl AG,Watts PM, Jenner P, Marsden CD. P450 enzymes and Parkinson's disease: the story so far. Mov Disord 1998; 13:212-220.
8. Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, et al. Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 2006; 15:1151-1158.
9. Toda T, Momose Y, Murata M, Tamiya G, Yamamoto M, Hattori N, et al. Toward identification of susceptibility genes for sporadic Parkinson's disease. J Neurol 2003; 250 (Suppl 3):40-43.
10. Healy DG, Abou-Sleiman PM, Ozawa T, Lees AJ, Bhatia K, Ahmadi KR, et al. A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease. Ann Neurol 2004; 55:443-446.
11. Cubells JF, Zabetian CP. Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology. Psychopharmacology (Berl) 2004; 174:463-476.
12. Zhao XP, Xie HJ, Tang GM, Zhao WW, Xu L, Su JJ, et al. Dopamine beta hydroxylase gene polymorphism and Parkinson's disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003; 20:238-240.
13. Kunugi H, Kawada Y, Hattori M, Ueki A, Otsuka M, Nanko S. Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. Am J Med Genet 1998; 81:131-133.
14. Joost O, Taylor CA, Thomas CA, Cupples LA, Saint-Hilaire MH, Feldman RG, et al. Absence of effect of seven functional mutations in the CYP2D6 gene in Parkinson's disease. Mov Disord 1999; 14:590-595.
15. Chaudhary S, Behari M, Dihana M, Swaminath PV, Govindappa ST, Jayaram S, et al. Association of N-acetyl transferase 2 gene polymorphism and slow acetylator phenotype with young onset and late onset Parkinson's disease among Indians. Pharmacogenet Genomics 2005; 15:731-735.
16. Okada S, Farin FM, Stapleton P, Viernes H, Quigley SD, Powers KM, et al. No associations between Parkinson's disease and polymorphisms of the quinone oxidoreductase (NQO1, NQO2) genes. Neurosci Lett 2005; 375:178-180.
17. Harada S, Fujii C, Hayashi A, Ohkoshi N. An association between idiopathic Parkinson's disease and polymorphisms of phase II detoxification enzymes: glutathione S-transferase M1 and quinone oxidoreductase 1 and 2. Biochem Biophys Res Commun 2001; 288:887-892.
18. Jiang XH, Yang H, Yang JF, Wang HT, Xu QY, Chen B. A study on the relationship between polymorphism of human NAD(P)H: quinone oxidoreductase and Parkinson's disease in Chinese. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004; 21:120-123.
19. Shao M, Liu Z, Tao E, Chen B. Polymorphism of MAO-B gene and NAD(P)H: quinone oxidoreductase gene in Parkinson's disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2001; 18:122-124.
20. van Muiswinkel FL, de Vos RA, Bol JG, Andringa G, Jansen Steur EN, Ross D, et al. Expression of NAD(P)H: quinone oxidoreductase in the normal and Parkinsonian substantia nigra. Neurobiol Aging 2004; 25:1253-1262.
21. Nagatsu T, Mogi M, Ichinose H, Togari A. Changes in cytokines and neurotrophins in Parkinson's disease. J Neural Transm 2000; 60:277-290.
22. Juyal RC, Das M, Punia S, Behari M, Nainwal G, Singh S, et al. Genetic susceptibility to Parkinson's disease among South and North Indians: I. role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker. Neurogenetic 2006; 7:223-229.
23. Gorroochurn P, Hodge SE, Heiman GA, Durner M, Greenberg DA. Non-replication of association studies: pseudo-failures to replicate? Genet Med 2007; 9:325-331.
24. 123I]IPT and single-photon emission tomography. Eur J Nucl Med 1997; 24:415-421.
25. De La Fuente-Fernández R, Lim AS, Sossi V, Adam MJ, Ruth TJ, Calne DB, et al. Age and severity of nigrostriatal damage at onset of Parkinson's disease. Synapse 2003; 47:152-158.
26. 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; 55:181-184.
27. Chaudhary S, Behari M, Dihana M, Swaminath PV, Govindappa ST, Jayaram S, et al. Parkin mutations in familial and sporadic Parkinson's disease among Indians. Parkinsonism Relat Disord 2006; 12:239-245.
28. Biswas A, Gupta A, Naiya T, Das G, Neogi R, Datta S, et al. Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients. Parkinsonism Relat Disord 2006; 12:420-426.
29. Madegowda RH, Kishore A, Anand A. Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease. J Neurol Neurosurg Psychiatry 2005; 76:1588-1590.
30. Hoehn MM, Yahr MD. Parkinsonism: onset, progression and mortality. Neurology 1967; 17:427-442.
31. Fahn S, Elton R. Unified Parkinson's Disease Rating Scale. In: Fahn S, Marsden CD, Jenner P, editors. Recent Developments in Parkinson's Disease. New Jersey: Macmillan Health Care Information; 1987. pp. 153-163.
32. Norton N, Kirov G, Zammit S, Jones G, Jones S, Owen R, et al. Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasis. Am J Med Genet 2002; 114:491-496.
33. Karayiorgou M, Gogos JA, Galke BL, Wolyniec PS, Nestadt G, Antonarakis SE, et al. Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility. Biol Psychiatry 1998; 43:425-431.
34. Hotamisligil GS, Breakefield XO. Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet 1991; 49:383-392.
35. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68:978-989.
36. Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73:1162-1169.
37. Sham PC, Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 1995; 59 (Pt 1): 97-105.
38. Basu A, Mukherjee N, Roy S, Sengupta S, Banerjee S, Chakraborty M, et al. Ethnic India: a genomic view, with special reference to peopling and structure. Genome Res 2003; 13:2277-2290.
39. Indian Genome Variation Consortium. Genetic landscape of the people of India: a canvas for disease gene exploration. J Genet 2008; 87:3-20.
40. Reich D, Thangaraj K, Patterson N, Price AL, Singh L. Reconstructing Indian population history. Nature 2009; 461:489-494.
41. Behari M, Bhatnagar SP, Muthane U, Deo D. Experiences of Parkinson's disease in India. Lancet Neurol 2002; 1:258-262.
42. Newton-Cheh C, Hirschhorn JN. Genetic association studies of complex traits: design and analysis issues. Mutat Res 2005; 573:54-69.
43. Zabetian CP, Anderson GM, Buxbaum SG, Elston RC, Ichinose H, Nagatsu T, et al. A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. Am J Hum Genet 2001; 68:515-522.
44. Tang Y, Anderson GM, Zabetian CP, Kohnke MD, Cubells JF. Haplotype-controlled analysis of the association of a non-synonymous single nucleotide polymorphism at DBH (+ 1603C-T) with plasma dopamine beta-hydroxylase activity. Am J Med Genet B Neuropsychiatr Genet 2005; 139:88-90.
45. Mathias CJ, Bannister R. Dopamine b-hydroxylase deficiency-with a note on other genetically determined causes of autonomic failure. In: Mathias CJ, Bannister R, editors. Autonomic failure: a textbook of clinical disorders of the autonomic nervous system. Oxford: Oxford University Press; 1999. pp. 387-401.