title: Epidemiological, clinical, and molecular study of a cohort of Italian Parkinson disease patients: association with glutathione-S-transferase and DNA repair gene polymorphisms.
abstract: Parkinson's disease (PD) is one of the most common neurodegenerative disorders whose etiology is multifactorial including both hereditary and environmental factors. Currently, pathogenic mutations in at least five genes have been implicated in familial PD generally accounting for less than 10 % of all PD cases in most populations. It has been suggested that polymorphisms in other genes such as those encoding enzymes involved in oxidative metabolism and detoxification could be involved in predisposition to PD since oxidative stress in dopaminergic neurons is thought to be of central importance in the pathogenesis of the disease. The aim of our work was to study the association of genetic polymorphisms in genes involved in oxidative metabolism and detoxification mechanism, namely GSTM1, GSTT1, GSTP1, and those involved in DNA damage repair, OGG1 and XRCC1, in an Italian cohort of sporadic PD patients. We did not detect any association between GSTT1 and GTTM1 null polymorphisms and PD, whereas the 104GSTP1 polymorphism was associated with PD in male patients but not in females. Furthermore, we detected a protective effect of wild type genotype of XRCC1 in women.
authors.affiliation: Department of Science, Roma Tre University, Rome, Italy.
authors.forename: Tommaso
authors.initials: T
authors.lastname: Cornetta
authors.forename: Clarice
authors.initials: C
authors.lastname: Patrono
authors.forename: Irene
authors.initials: I
authors.lastname: Terrenato
authors.forename: Francesca
authors.initials: F
authors.lastname: De Nigris
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: Antonella
authors.initials: A
authors.lastname: Testa
authors.forename: Valentina
authors.initials: V
authors.lastname: Palma
authors.forename: Tommaso
authors.initials: T
authors.lastname: Poggioli
authors.forename: Luca
authors.initials: L
authors.lastname: Padua
authors.forename: Renata
authors.initials: R
authors.lastname: Cozzi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D003710:Demography; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D051549:Glutathione S-Transferase pi / Q000235:genetics; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010300:Parkinson Disease / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D045647:DNA Glycosylases; D004268:DNA-Binding Proteins; D051549:Glutathione S-Transferase pi; D005982:Glutathione Transferase; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; C413545:glutathione S-transferase T1; C496556:GSTP1 protein, human; C479058:oxoguanine glycosylase 1, human
references.citation: J Neuropathol Exp Neurol. 2008 May;67(5):377-87
references.pmid: 18431258
references.citation: Acta Neuropathol. 2005 Mar;109(3):256-62
references.pmid: 15841414
references.citation: Ann Neurol. 2003;53 Suppl 3:S26-36; discussion S36-8
references.pmid: 12666096
references.citation: J Neurosci Res. 2007 Apr;85(5):919-34
references.pmid: 17279544
references.citation: Nat Genet. 2009 Dec;41(12):1303-7
references.pmid: 19915576
references.citation: Int J Radiat Oncol Biol Phys. 2006 Oct 1;66(2):537-45
references.pmid: 16965996
references.citation: Am J Hum Genet. 2011 Sep 9;89(3):398-406
references.pmid: 21907011
references.citation: Am J Hum Genet. 2011 Jul 15;89(1):168-75
references.pmid: 21763483
references.citation: Neurosci Lett. 2008 Sep 19;442(3):287-91
references.pmid: 18672023
references.citation: Curr Opin Genet Dev. 2009 Jun;19(3):254-65
references.pmid: 19419854
references.citation: Neurol Sci. 2001 Feb;22(1):83-4
references.pmid: 11487213
references.citation: PLoS Genet. 2012;8(3):e1002548
references.pmid: 22438815
references.citation: Am J Hum Genet. 2011 Jul 15;89(1):162-7
references.pmid: 21763482
references.citation: Mol Cell Biochem. 2008 May;312(1-2):131-8
references.pmid: 18327668
references.citation: Neurosci Lett. 2010 Apr 12;473(3):248-51
references.pmid: 20193742
references.citation: Arch Neurol. 1999 Jan;56(1):33-9
references.pmid: 9923759
references.citation: Neurology. 1967 May;17(5):427-42
references.pmid: 6067254
references.citation: Neuroscience. 2007 Apr 14;145(4):1187-200
references.pmid: 16934943
references.citation: Neurosci Lett. 2004 Aug 19;366(3):326-31
references.pmid: 15288444
references.citation: Neurology. 2002 Jun 25;58(12):1809-15
references.pmid: 12084881
references.citation: Clin Genet. 2007 Nov;72(5):387-93
references.pmid: 17868389
references.citation: Neurol Sci. 2007 Mar;28(1):31-4
references.pmid: 17385092
references.citation: Carcinogenesis. 1993 Sep;14(9):1821-4
references.pmid: 8403204
references.citation: Neurosci Lett. 2007 Feb 21;413(3):274-8
references.pmid: 17194543
references.citation: Neurosci Lett. 2003 Jan 30;337(1):5-8
references.pmid: 12524158
references.citation: Neurosci Lett. 2007 May 17;418(2):181-5
references.pmid: 17403576
references.citation: Nat Genet. 2009 Dec;41(12):1308-12
references.pmid: 19915575
references.citation: Parkinsonism Relat Disord. 2010 Aug;16(7):447-52
references.pmid: 20472488
references.citation: PLoS One. 2007 Feb 07;2(2):e196
references.pmid: 17332845
references.citation: Acta Neuropathol. 2012 Sep;124(3):325-38
references.pmid: 22806825
references.citation: Ann Neurol. 2003;53 Suppl 3:S16-23; discussion S23-5
references.pmid: 12666095
references.citation: J Neurol. 2008 Sep;255 Suppl 5:18-32
references.pmid: 18787879
references.citation: Antioxid Redox Signal. 2001 Aug;3(4):597-609
references.pmid: 11554447
references.citation: Curr Opin Investig Drugs. 2001 May;2(5):657-62
references.pmid: 11569943
references.citation: DNA Repair (Amst). 2006 Jul 13;5(7):761-72
references.pmid: 16621731
references.citation: Biochem J. 1997 May 15;324 ( Pt 1):25-8
references.pmid: 9164836
references.citation: Mov Disord. 2005 Jul;20(7):901-2
references.pmid: 15834859
references.citation: Annu Rev Neurosci. 1999;22:123-44
references.pmid: 10202534
references.citation: FASEB J. 2003 Jul;17(10):1195-214
references.pmid: 12832285