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KMID : 1130620190150010102
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Journal of Clinical Neurology
2019 Volume.15 No. 1 p.102 ~ p.107
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Effect of Single-Nucleotide Polymorphisms on Decline of Dopamine Transporter Availability in Parkinson's Disease
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Shin Seung-Hyeon
Kim Keun-Young
Lee Jae-Meen
Kim Eun-Joo
Kim Seong-Jang
Kim In-Joo
Pak Kyoung-June
Lee Myung-Jun
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Abstract
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Background and Purpose: We aimed to determine the association between the annual changes in dopamine transporter (DAT) availability as measured by 123I-ioflupane (123I-FP-CIT) single-photon-emission computed tomography and single-nucleotide polymorphisms (SNPs) known to be risk factors in Parkinson's disease (PD).
Methods: In total, 150 PD patients were included from the Parkinson's Progression Markers Initiative database. Specific SNPs that are associated with PD were selected for genotyping. SNPs that were not in Hardy-Weinberg equilibrium or whose minor allele frequency was less than 0.05 were excluded. Twenty-three SNPs met the inclusion criteria for this study. The Kruskal-Wallis test was used to compare annual percentage changes in DAT availability for three subgroups of SNP.
Results: None of the 23 SNPs exerted a statistically significant effect (p<0.0022) on the decline of DAT availability in PD patients. However, we observed trends of association (p<0.05) between three SNPs of two genes with the annual percentage change in DAT availability: 1) rs199347 on the putamen (p=0.0138), 2) rs356181 on the caudate nucleus (p=0.0105), and 3) rs3910105 on the caudate nucleus (p=0.0374). A post-hoc analysis revealed that DAT availability was reduced the most for 1) the putamen in the CC genotype of rs199347 (vs. CT, p=0.0199; vs. TT, p=0.0164), 2) the caudate nucleus in the TT genotype of rs356181 (vs. CC, p=0.0081), and 3) the caudate nucleus in the CC genotype of rs3910105 (vs. TT, p=0.0317).
Conclusions: Significant trends in the associations between three SNPs and decline of DAT availability in PD patients have been discovered.
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KEYWORD
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single photon emission computed tomography, 123I-ioflupane, dopamine transporter, single-nucleotide polymorphism, Parkinson's disease
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