Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease
Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder. Aging, environmental factors, and genetics are considered as risk factors. The alpha-synuclein gene (SNCA), the first pathogenic gene identified in a familial form of PD, was indisputably involved as a heritable compone...
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| Format: | Article |
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Frontiers Media S.A.
2021-08-01
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| Series: | Frontiers in Aging Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnagi.2021.648151/full |
| _version_ | 1818367921921982464 |
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| author | Yi Guo Yan Sun Zhi Song Wen Zheng Wei Xiong Yan Yang Lamei Yuan Lamei Yuan Lamei Yuan Hao Deng Hao Deng Hao Deng |
| author_facet | Yi Guo Yan Sun Zhi Song Wen Zheng Wei Xiong Yan Yang Lamei Yuan Lamei Yuan Lamei Yuan Hao Deng Hao Deng Hao Deng |
| author_sort | Yi Guo |
| collection | DOAJ |
| description | Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder. Aging, environmental factors, and genetics are considered as risk factors. The alpha-synuclein gene (SNCA), 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 SNCA 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 SNCA 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 SNCA gene, excepting two single-nucleotide nonsynonymous variants c.158C>T (p.A53V, rs542171324) and c.349C>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 P > 0.05). No copy number variants of the SNCA gene were detected. The results of this study suggest that the variants in the exons of the SNCA 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 SNCA duplication or triplication (psychiatric signs: χ2 = 7.892, P = 0.005; cognitive decline/dementia: χ2 = 8.991, P = 0.003). |
| first_indexed | 2024-12-13T22:59:44Z |
| format | Article |
| id | doaj.art-d4ac6f32ba70440d90b574ff92333116 |
| institution | Directory Open Access Journal |
| issn | 1663-4365 |
| language | English |
| last_indexed | 2024-12-13T22:59:44Z |
| publishDate | 2021-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Aging Neuroscience |
| spelling | doaj.art-d4ac6f32ba70440d90b574ff923331162022-12-21T23:28:25ZengFrontiers Media S.A.Frontiers in Aging Neuroscience1663-43652021-08-011310.3389/fnagi.2021.648151648151Genetic Analysis and Literature Review of SNCA Variants in Parkinson's DiseaseYi Guo0Yan Sun1Zhi Song2Wen Zheng3Wei Xiong4Yan Yang5Lamei Yuan6Lamei Yuan7Lamei Yuan8Hao Deng9Hao Deng10Hao Deng11Department of Medical Information, School of Life Sciences, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, ChinaCancer Research Institute, Xiangya School of Medicine, Central South University, Changsha, ChinaDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, ChinaDisease Genome Research Center, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, ChinaDisease Genome Research Center, Central South University, Changsha, ChinaParkinson's disease (PD) is the fastest-growing neurodegenerative disorder. Aging, environmental factors, and genetics are considered as risk factors. The alpha-synuclein gene (SNCA), 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 SNCA 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 SNCA 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 SNCA gene, excepting two single-nucleotide nonsynonymous variants c.158C>T (p.A53V, rs542171324) and c.349C>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 P > 0.05). No copy number variants of the SNCA gene were detected. The results of this study suggest that the variants in the exons of the SNCA 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 SNCA duplication or triplication (psychiatric signs: χ2 = 7.892, P = 0.005; cognitive decline/dementia: χ2 = 8.991, P = 0.003).https://www.frontiersin.org/articles/10.3389/fnagi.2021.648151/fullParkinson's diseaseSNCA genegenetic analysiswhole-exome sequencingSanger sequencingvariant |
| spellingShingle | Yi Guo Yan Sun Zhi Song Wen Zheng Wei Xiong Yan Yang Lamei Yuan Lamei Yuan Lamei Yuan Hao Deng Hao Deng Hao Deng Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease Frontiers in Aging Neuroscience Parkinson's disease SNCA gene genetic analysis whole-exome sequencing Sanger sequencing variant |
| title | Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease |
| title_full | Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease |
| title_fullStr | Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease |
| title_full_unstemmed | Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease |
| title_short | Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease |
| title_sort | genetic analysis and literature review of snca variants in parkinson s disease |
| topic | Parkinson's disease SNCA gene genetic analysis whole-exome sequencing Sanger sequencing variant |
| url | https://www.frontiersin.org/articles/10.3389/fnagi.2021.648151/full |
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