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dc.contributor.authorRhodes, Shannon L
dc.contributor.authorBuchanan, Daniel D
dc.contributor.authorAhmed, Ismay
dc.contributor.authorTaylor, Kent D
dc.contributor.authorLoriot, Marie-Anne
dc.contributor.authorSinsheimer, Janet S
dc.contributor.authorBronstein, Jeff M
dc.contributor.authorElbaz, Alexis
dc.contributor.authorMellick, George D
dc.contributor.authorRotter, Jerome I
dc.contributor.authorRitz, Beate
dc.date.accessioned2017-05-03T14:10:34Z
dc.date.available2017-05-03T14:10:34Z
dc.date.issued2014
dc.identifier.issn0969-9961
dc.identifier.doi10.1016/j.nbd.2013.09.019
dc.identifier.urihttp://hdl.handle.net/10072/66746
dc.description.abstractPathologic features of Parkinson's disease (PD) include death of dopaminergic neurons in the substantia nigra, presence of a-synuclein containing Lewy bodies, and iron accumulation in PD-related brain regions. The observed iron accumulation may be contributing to PD etiology but it also may be a byproduct of cell death or cellular dysfunction. To elucidate the possible role of iron accumulation in PD, we investigated genetic variation in 16 genes related to iron homeostasis in three case-control studies from the United States, Australia, and France. After screening 90 haplotype tagging single nucleotide polymorphisms (SNPs) within the genes of interest in the US study population, we investigated the five most promising gene regions in two additional independent case-control studies. For the pooled data set (1289 cases, 1391 controls) we observed a protective association (OR = 0.83, 95% CI: 0.71-0.96) between PD and a haplotype composed of the A allele at rs1880669 and the T allele at rs1049296 in transferrin (TF; GeneID: 7018). Additionally, we observed a suggestive protective association (OR = 0.87, 95% CI: 0.74-1.02) between PD and a haplotype composed of the G allele at rs10247962 and the A allele at rs4434553 in transferrin receptor 2 (TFR2; GeneID: 7036). We observed no associations in our pooled sample for haplotypes in SLC40A1, CYB561, or HFE. Taken together with previous findings in model systems, our results suggest that TF or a TF-TFR2 complex may have a role in the etiology of PD, possibly through iron misregulation or mitochondrial dysfunction within dopaminergic neurons.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.publisherAcademic Press
dc.publisher.placeUnited States
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom172
dc.relation.ispartofpageto178
dc.relation.ispartofjournalNeurobiology of Disease
dc.relation.ispartofvolume62
dc.rights.retentionY
dc.subject.fieldofresearchNeurology and Neuromuscular Diseases
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchNeurosciences
dc.subject.fieldofresearchcode110904
dc.subject.fieldofresearchcode1103
dc.subject.fieldofresearchcode1109
dc.titlePooled analysis of iron-related genes in Parkinson's disease: association with transferrin
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorMellick, George


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