Linked Life Data

18568448

Source:http://linkedlifedata.com/resource/pubmed/id/18568448

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-7-8
pubmed:abstractText
Parkinson's disease (PD), one of the most common human neurodegenerative disorders, is characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. Our recent case-control association study of 268 SNPs in 121 candidate genes identified alpha-synuclein (SNCA) as a susceptibility gene for sporadic PD (P = 1.7 x 10(-11)). We also replicated the association of fibroblast growth factor 20 (FGF20) with PD (P = 0.0089). To find other susceptibility genes, we added 34 SNPs to the previous screen. Of 302 SNPs in a total 137 genes, but excluding SNCA, SNPs in NDUFV2, FGF2, CALB1 and B2M showed significant association (P < 0.01; 882 cases and 938 control subjects). We replicated the association analysis for these SNPs in a second independent sample set (521 cases and 1,003 control subjects). One SNP, rs1805874 in calbindin 1 (CALB1), showed significance in both analyses (P = 7.1 x 10(-5); recessive model). When the analysis was stratified relative to the SNCA genotype, the odds ratio of CALB1 tended to increase according to the number of protective alleles in SNCA. In contrast, FGF20 was significant only in the subgroup of SNCA homozygote of risk allele. CALB1 is a calcium-binding protein that widely is expressed in neurons. A relative sparing of CALB1-positive dopaminergic neurons is observed in PD brains, compared with CALB1-negative neurons. Our genetic analysis suggests that CALB1 is associated with PD independently of SNCA, and that FGF20 is associated with PD synergistically with SNCA.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1432-1203
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
124
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
89-94
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:18568448-Adult, pubmed-meshheading:18568448-Aged, pubmed-meshheading:18568448-Calcium-Binding Protein, Vitamin D-Dependent, pubmed-meshheading:18568448-Calcium-Binding Proteins, pubmed-meshheading:18568448-Case-Control Studies, pubmed-meshheading:18568448-Female, pubmed-meshheading:18568448-Fibroblast Growth Factors, pubmed-meshheading:18568448-Gene Frequency, pubmed-meshheading:18568448-Genotype, pubmed-meshheading:18568448-Humans, pubmed-meshheading:18568448-Linkage Disequilibrium, pubmed-meshheading:18568448-Lod Score, pubmed-meshheading:18568448-Male, pubmed-meshheading:18568448-Middle Aged, pubmed-meshheading:18568448-Nerve Tissue Proteins, pubmed-meshheading:18568448-Parkinson Disease, pubmed-meshheading:18568448-Polymorphism, Single Nucleotide, pubmed-meshheading:18568448-alpha-Synuclein
pubmed:year
2008
pubmed:articleTitle
Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease.
pubmed:affiliation
Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, 2-2-B9 Yamadaoka, Suita, Osaka, 565-0871, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't