Einzeltreffer — DigiBib

Background: Parkinson's disease (PD) and Essential tremor (ET) are the two most common tremor diseases with recognized genetic pathogenesis. The overlapping clinical features suggest they may share genetic predispositions. Our previous study systematically investigated the association between rare coding variants in ET-associated genes and early-onset PD (EOPD), and found the suggestive association between teneurin transmembrane protein 4 ( TENM4 ) and EOPD. In the current research, we explored the potential genetic interplay between ET-associated genetic loci/genes and sporadic late-onset PD (LOPD).

Methods: We performed whole-genome sequencing in the 1962 sporadic LOPD cases and 1279 controls from mainland China. We first used logistic regression analysis to test the top 16 SNPs identified by the ET genome-wide association study for the association between ET and LOPD. Then we applied the optimized sequence kernel association testing to explore the rare variant burden of 33 ET-associated genes in this cohort.

Results: We did not observe a significant association between the included SNPs with LOPD. We also did not discover a significant burden of rare deleterious variants of ET-associated genes in association with LOPD risk.

Conclusion: Our results do not support the role of ET-associated genetic loci and variants in LOPD.

Highlights: 1962 cases and 1279 controls were recruited to study the potential genetic interplay between ET-associated genetic loci/variants and sporadic LOPD.No significant association between the ET-associated SNPs and LOPD were observed.No significant burden of rare deleterious variants of ET-associated gene in LOPD risk were found.

Competing Interests: The authors have no competing interests to declare.

Titel:	Association Analysis of Essential Tremor-Associated Genetic Variants in Sporadic Late-Onset Parkinson's Disease.
Autor/in / Beteiligte Person:	Zeng, S ; Zhou, X ; He, R ; Zhao, Y ; Liu, Z ; Xu, Q ; Guo, J ; Yan, X ; Li, J ; Tang, B ; Sun, Q
Zeitschrift:	Tremor and other hyperkinetic movements (New York, N.Y.), Jg. 14 (2024-05-10), S. 25
Veröffentlichung:	2020- : East London Works, UK : Ubiquity Press ; <i>Original Publication</i>: New York : Center for Digital Research and Scholarship, 2024
Medientyp:	academicJournal
ISSN:	2160-8288 (electronic)
DOI:	10.5334/tohm.885
Schlagwort:	Humans Female Male Aged Middle Aged Age of Onset China Case-Control Studies Essential Tremor genetics Parkinson Disease genetics Polymorphism, Single Nucleotide genetics Genetic Predisposition to Disease genetics Genome-Wide Association Study
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, Non-U.S. Gov't Language: English [Tremor Other Hyperkinet Mov (N Y)] 2024 May 10; Vol. 14, pp. 25. <i>Date of Electronic Publication: </i>2024 May 10 (<i>Print Publication: </i>2024). MeSH Terms: Essential Tremor* / genetics ; Parkinson Disease* / genetics ; Polymorphism, Single Nucleotide* / genetics ; Genetic Predisposition to Disease* / genetics ; Genome-Wide Association Study* ; Humans ; Female ; Male ; Aged ; Middle Aged ; Age of Onset ; China ; Case-Control Studies References: Parkinsonism Relat Disord. 2020 Jun;75:24-26. (PMID: 32442813) ; Mov Disord. 2009 Dec 15;24(16):2404-7. (PMID: 19908305) ; Parkinsonism Relat Disord. 2018 Jun;51:24-29. (PMID: 29482925) ; Biostatistics. 2016 Jan;17(1):1-15. (PMID: 26363037) ; Tremor Other Hyperkinet Mov (N Y). 2019 Jan 9;8:589. (PMID: 30643667) ; Parkinsonism Relat Disord. 2016 Jan;22 Suppl 1:S162-5. (PMID: 26522219) ; Parkinsonism Relat Disord. 2011 Sep;17(8):638-41. (PMID: 21752692) ; Neurology. 2018 Mar 27;90(13):e1095-e1103. (PMID: 29476038) ; Nucleic Acids Res. 2018 Sep 6;46(15):7793-7804. (PMID: 30060008) ; Neurology. 2005 Aug 23;65(4):651-2. (PMID: 16116142) ; Mov Disord. 2008 May 15;23(7):993-997. (PMID: 18383536) ; Brain. 2020 Jul 1;143(7):2220-2234. (PMID: 32613234) ; Front Neurol. 2018 May 30;9:387. (PMID: 29899728) ; J Mol Neurosci. 2023 May;73(4-5):205-213. (PMID: 36929462) ; Hum Mol Genet. 2015 Oct 15;24(20):5677-86. (PMID: 26188006) ; Neurogenetics. 2010 Oct;11(4):401-8. (PMID: 20369371) ; Parkinsonism Relat Disord. 2021 Mar;84:29-34. (PMID: 33548880) ; Neurology. 2012 Jul 17;79(3):243-8. (PMID: 22764253) ; Neurobiol Aging. 2018 Jun;66:178.e13-178.e15. (PMID: 29398123) ; Nature. 2020 May;581(7809):434-443. (PMID: 32461654) ; Tremor Other Hyperkinet Mov (N Y). 2020 Jun 11;10:4. (PMID: 32775018) ; Lancet Neurol. 2019 Dec;18(12):1091-1102. (PMID: 31701892) ; Neurosci Lett. 2009 Sep 18;461(2):74-5. (PMID: 19524641) ; Parkinsonism Relat Disord. 2018 Jan;46 Suppl 1:S101-S104. (PMID: 28729090) ; Mov Disord. 2011 Mar;26(4):722-7. (PMID: 21506150) ; Nat Genet. 2009 Mar;41(3):277-9. (PMID: 19182806) ; Neurology. 1990 Oct;40(10):1529-34. (PMID: 2215943) ; Mov Disord. 2016 Apr;31(4):579-83. (PMID: 26893155) ; Mol Neurodegener. 2021 Jun 21;16(1):35. (PMID: 34148545) ; Lancet. 2021 Jun 12;397(10291):2284-2303. (PMID: 33848468) ; Nucleic Acids Res. 2010 Sep;38(16):e164. (PMID: 20601685) ; Neurol Genet. 2017 Oct 19;3(5):e195. (PMID: 30584593) ; Mov Disord. 2015 Oct;30(12):1591-601. (PMID: 26474316) ; Lancet Neurol. 2020 Feb;19(2):170-178. (PMID: 31521533) ; Lancet. 2004 May 29;363(9423):1783-93. (PMID: 15172778) ; Neurobiol Aging. 2021 Apr;100:119.e7-119.e13. (PMID: 33239198) ; Nat Rev Dis Primers. 2021 Nov 11;7(1):83. (PMID: 34764294) ; Mov Disord. 2011 Feb 15;26(3):372-7. (PMID: 21284040) ; Brain. 2016 Dec;139(Pt 12):3163-3169. (PMID: 27797806) ; Brain. 2017 Dec 1;140(12):3191-3203. (PMID: 29140481) ; Ann Clin Transl Neurol. 2021 Jan;8(1):119-125. (PMID: 33185019) ; Front Aging Neurosci. 2021 Nov 15;13:749109. (PMID: 34867278) ; JAMA Neurol. 2022 Feb 1;79(2):185-193. (PMID: 34982113) ; J Med Genet. 2019 Apr;56(4):265-270. (PMID: 30194086) ; Sci Rep. 2017 Aug 11;7(1):7981. (PMID: 28801652) ; CNS Neurosci Ther. 2020 Apr;26(4):448-452. (PMID: 31755235) ; J Neurol Sci. 2016 Jun 15;365:96-100. (PMID: 27206883) ; Neurosci Lett. 2011 Jan 7;487(2):174-6. (PMID: 20951767) ; Nucleic Acids Res. 2018 Jan 4;46(D1):D1039-D1048. (PMID: 29112736) ; Neurosci Lett. 2010 Sep 6;481(2):69-72. (PMID: 20600614) Contributed Indexing: Keywords: Parkinson’s disease; SKAT-O; association analysis; essential tremor; genetic variant; rare deleterious variants Entry Date(s): Date Created: 20240513 Date Completed: 20240513 Latest Revision: 20240514 Update Code: 20240514 PubMed Central ID: PMC11086585

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Association Analysis of Essential Tremor-Associated Genetic Variants in Sporadic Late-Onset Parkinson's Disease.