Pooled analysis of iron-related genes in Parkinson's disease: Association with transferrin

Rhodes S.L., Buchanan D.D., Ahmed I., Taylor K.D., Loriot M.-A., Sinsheimer J.S., Bronstein J.M., Elbaz A., Mellick G.D., Rotter J.I. and Ritz B. (2014) Pooled analysis of iron-related genes in Parkinson's disease: Association with transferrin. Neurobiology of Disease, 62 172-178. doi:10.1016/j.nbd.2013.09.019

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Author Rhodes S.L.
Buchanan D.D.
Ahmed I.
Taylor K.D.
Loriot M.-A.
Sinsheimer J.S.
Bronstein J.M.
Elbaz A.
Mellick G.D.
Rotter J.I.
Ritz B.
Title Pooled analysis of iron-related genes in Parkinson's disease: Association with transferrin
Journal name Neurobiology of Disease   Check publisher's open access policy
ISSN 0969-9961
1095-953X
Publication date 2014-02-01
Year available 2013
Sub-type Article (original research)
DOI 10.1016/j.nbd.2013.09.019
Open Access Status File (Author Post-print)
Volume 62
Start page 172
End page 178
Total pages 7
Place of publication Maryland Heights, United States
Publisher Academic Press
Collection year 2014
Language eng
Formatted abstract
Pathologic features of Parkinson's disease (PD) include death of dopaminergic neurons in the substantia nigra, presence of α-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.
Keyword Epidemiology
Genetics
Iron homeostasis
Pooled-analysis
Transferrin
Transferrin receptor 2
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Medicine Publications
 
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