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Effect of rs3910105 in the Synuclein Gene on Dopamine Transporter Availability in Healthy Subjects
Yonsei Medical Journal ; : 787-792, 2018.
Article in English | WPRIM | ID: wpr-716424
ABSTRACT

PURPOSE:

The present study investigated associations between dopamine transporter (DAT) availability and α-synuclein levels in cerebrospinal fluid, as well as synuclein gene (SNCA) transcripts, and the effect of single nucleotide polymorphism of SNCA on DAT availability in healthy subjects. MATERIALS AND

METHODS:

The study population comprised healthy controls who underwent 123I-FP-CIT single-photon emission computed tomography screening. Five SNCA probes were used to target the boundaries of exon 3 and exon 4 (SNCA-E3E4), transcripts with a long 3′UTR region (SNCA-3UTR-1, SNCA-3UTR-2), transcripts that skip exon 5 (SNCA-E4E6), and the rare short transcript isoforms that comprise exons 1–4 (SNCA-007).

RESULTS:

In total, 123 healthy subjects (male 75, female 48) were included in this study. DAT availability in the caudate nucleus (p=0.0661) and putamen (p=0.0739) tended to differ according to rs3910105 genotype. In post-hoc analysis, DAT availability in the putamen was lower in subjects of TT genotype than those of CC/CT (p=0.0317). DAT availability in the caudate nucleus also showed a trend similar to that in the putamen (p=0.0597). Subjects of CT genotype with rs3910105 showed negative correlations with DAT availability in the putamen with SNCA-E3E4 (p=0.037, rho=−0.277), and SNCA-E4E6 (p=0.042, rho=−0.270), but not those of CC/TT genotypes.

CONCLUSION:

This is the first study to investigate the association of rs3910105 in SNCA with DAT availability. rs3910105 had an effect on DAT availability, and the correlation between DAT availability and SNCA transcripts were significant in CT genotypes of rs3910105.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Putamen / Biomarkers / Dopamine / Tomography, Emission-Computed / Caudate Nucleus / Cerebrospinal Fluid / Mass Screening / Exons / Protein Isoforms / Polymorphism, Single Nucleotide Type of study: Screening study Limits: Female / Humans Language: English Journal: Yonsei Medical Journal Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Putamen / Biomarkers / Dopamine / Tomography, Emission-Computed / Caudate Nucleus / Cerebrospinal Fluid / Mass Screening / Exons / Protein Isoforms / Polymorphism, Single Nucleotide Type of study: Screening study Limits: Female / Humans Language: English Journal: Yonsei Medical Journal Year: 2018 Type: Article