دورية أكاديمية
أعرض في EDS

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.

التفاصيل البيبلوغرافية
العنوان: SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
المؤلفون: Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Fogh I; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Selvackadunco S; MRC London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Topp SD; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., van Rheenen W; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Al-Khleifat A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Opie-Martin S; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Ratti A; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy., Calvo A; Department of Neuroscience 'Rita Levi Montalcini', ALS Centre, University of Turin, Torino, Italy.; Neuroscience Institute of Torino (NIT), University of Torino, Torino, Piemonte, Italy., Van Damme P; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Neurosciences, Laboratory of Neurobiology, VIB Center for Brain and Disease Research, Leuven, Belgium., Robberecht W; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., Chio A; Department of Neuroscience 'Rita Levi Montalcini', ALS Centre, University of Turin, Torino, Italy.; Neuroscience Institute of Torino (NIT), University of Torino, Torino, Piemonte, Italy., Dobson RJ; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, University of Dublin Trinity College, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin 9, Ireland., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., van den Berg LH; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Andersen PM; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Silani V; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.; Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., Veldink JH; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Breen G; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Troakes C; MRC London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK.; Department of Neurology, King's College Hospital, London, UK., Jones AR; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK.
مؤلفون مشاركون: UK Brain Expression Consortium
المصدر: Brain communications [Brain Commun] 2021 Oct 07; Vol. 3 (4), pp. fcab236. Date of Electronic Publication: 2021 Oct 07 (Print Publication: 2021).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Oxford] : Oxford University Press, [2019]-
مستخلص: Evidence indicates that common variants found in genome-wide association studies increase risk of disease through gene regulation via expression Quantitative Trait Loci. Using multiple genome-wide methods, we examined if Single Nucleotide Polymorphisms increase risk of Amyotrophic Lateral Sclerosis through expression Quantitative Trait Loci, and whether expression Quantitative Trait Loci expression is consistent across people who had Amyotrophic Lateral Sclerosis and those who did not. In combining public expression Quantitative Trait Loci data with Amyotrophic Lateral Sclerosis genome-wide association studies, we used Summary-data-based Mendelian Randomization to confirm that SCFD1 was the only gene that was genome-wide significant in mediating Amyotrophic Lateral Sclerosis risk via expression Quantitative Trait Loci (Summary-data-based Mendelian Randomization beta = 0.20, standard error = 0.04, P -value = 4.29 × 10 -6 ). Using post-mortem motor cortex, we tested whether expression Quantitative Trait Loci showed significant differences in expression between Amyotrophic Lateral Sclerosis ( n = 76) and controls ( n = 25), genome-wide. Of 20 757 genes analysed, the two most significant expression Quantitative Trait Loci to show differential in expression between Amyotrophic Lateral Sclerosis and controls involve two known Amyotrophic Lateral Sclerosis genes ( SCFD1 and VCP ). Cis -acting SCFD1 expression Quantitative Trait Loci downstream of the gene showed significant differences in expression between Amyotrophic Lateral Sclerosis and controls (top expression Quantitative Trait Loci beta = 0.34, standard error = 0.063, P -value = 4.54 × 10 -7 ). These SCFD1 expression Quantitative Trait Loci also significantly modified Amyotrophic Lateral Sclerosis survival (number of samples = 4265, hazard ratio = 1.11, 95% confidence interval = 1.05-1.17, P -value = 2.06 × 10 -4 ) and act as an Amyotrophic Lateral Sclerosis trans-expression Quantitative Trait Loci hotspot for a wider network of genes enriched for SCFD1 function and Amyotrophic Lateral Sclerosis pathways. Using gene-set analyses, we found the genes that correlate with this trans-expression Quantitative Trait Loci hotspot significantly increase risk of Amyotrophic Lateral Sclerosis (beta = 0.247, standard deviation = 0.017, P = 0.001) and schizophrenia (beta = 0.263, standard deviation = 0.008, P -value = 1.18 × 10 -5 ), a disease that genetically correlates with Amyotrophic Lateral Sclerosis. In summary, SCFD1 expression Quantitative Trait Loci are a major factor in Amyotrophic Lateral Sclerosis, not only influencing disease risk but are differentially expressed in post-mortem Amyotrophic Lateral Sclerosis. SCFD1 expression Quantitative Trait Loci show distinct expression profiles in Amyotrophic Lateral Sclerosis that correlate with a wider network of genes that also confer risk of the disease and modify the disease's duration.
(© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.)
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معلومات مُعتمدة: MR/L501529/1 United Kingdom MRC_ Medical Research Council; MR/L021803/1 United Kingdom MRC_ Medical Research Council; MR/L016397/1 United Kingdom MRC_ Medical Research Council; SMITH/APR16/847-791 United Kingdom MNDA_ Motor Neurone Disease Association; MRF_MRF-060-0003-RG-SMITH United Kingdom MRF MRF; SHAW/APR18/864-791 United Kingdom MNDA_ Motor Neurone Disease Association; JONES/OCT15/958-799 United Kingdom MNDA_ Motor Neurone Disease Association; G0500289 United Kingdom MRC_ Medical Research Council; SHAW/NOV14/985-797 United Kingdom MNDA_ Motor Neurone Disease Association; G0900688 United Kingdom MRC_ Medical Research Council; G0600974 United Kingdom MRC_ Medical Research Council; MR/R024804/1 United Kingdom MRC_ Medical Research Council
فهرسة مساهمة: Keywords: GWAS; Mendelian randomization; amyotrophic lateral sclerosis; expression quantitative trait loci; vesicle-mediated transport
تواريخ الأحداث: Date Created: 20211028 Latest Revision: 20230315
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8545614
DOI: 10.1093/braincomms/fcab236
PMID: 34708205
قاعدة البيانات: MEDLINE
الوصف
تدمد:2632-1297
DOI:10.1093/braincomms/fcab236