{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T00:16:36Z","timestamp":1789517796840,"version":"build-2803163510"},"reference-count":46,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T00:00:00Z","timestamp":1628726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC1306604"],"award-info":[{"award-number":["2016YFC1306604"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012476","name":"Fundamental Research Funds for Central Universities of the Central South University","doi-asserted-by":"publisher","award":["2020zzts299"],"award-info":[{"award-number":["2020zzts299"]}],"id":[{"id":"10.13039\/501100012476","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Aging Neurosci."],"abstract":"<jats:p>\n                    Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder. Aging, environmental factors, and genetics are considered as risk factors. The alpha-synuclein gene (\n                    <jats:italic>SNCA<\/jats:italic>\n                    ), the first pathogenic gene identified in a familial form of PD, was indisputably involved as a heritable component for familial and sporadic PD. In this study, whole-exome sequencing and Sanger sequencing were performed to evaluate the association between the\n                    <jats:italic>SNCA<\/jats:italic>\n                    gene variants and PD. The genetic data of 438 clinically diagnosed patients with PD and 543 matched control populations of the Han Chinese were analyzed. The literature review of\n                    <jats:italic>SNCA<\/jats:italic>\n                    variants for 231 cases reported in 89 articles was extracted from the PubMed and the Movement Disorder Society Genetic mutation database. No potentially causative variant(s) in the\n                    <jats:italic>SNCA<\/jats:italic>\n                    gene, excepting two single-nucleotide nonsynonymous variants c.158C&amp;gt;T (p.A53V, rs542171324) and c.349C&amp;gt;T (p.P117S, rs145138372), were detected. There was no statistically significant difference in the genotypic or allelic frequencies for either variant between the PD group and the control group (all\n                    <jats:italic>P<\/jats:italic>\n                    &amp;gt; 0.05). No copy number variants of the\n                    <jats:italic>SNCA<\/jats:italic>\n                    gene were detected. The results of this study suggest that the variants in the exons of the\n                    <jats:italic>SNCA<\/jats:italic>\n                    gene may have less or no role in the development of PD in the Han Chinese populations. The literature review suggests that psychiatric signs and cognitive decline\/dementia were more common among patients with\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication or triplication (psychiatric signs: \u03c7\n                    <jats:sup>2<\/jats:sup>\n                    = 7.892,\n                    <jats:italic>P<\/jats:italic>\n                    = 0.005; cognitive decline\/dementia: \u03c7\n                    <jats:sup>2<\/jats:sup>\n                    = 8.991,\n                    <jats:italic>P<\/jats:italic>\n                    = 0.003).\n                  <\/jats:p>","DOI":"10.3389\/fnagi.2021.648151","type":"journal-article","created":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T04:21:56Z","timestamp":1628742116000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":28,"title":["Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease"],"prefix":"10.3389","volume":"13","author":[{"given":"Yi","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamei","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,8,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1101\/gr.114876.110","article-title":"CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing","volume":"21","author":"Abyzov","year":"2011","journal-title":"Genome Res."},{"key":"B2","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1111\/ene.14108","article-title":"Parkinson disease","volume":"27","author":"Balestrino","year":"2020","journal-title":"Eur. 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