Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

United Kingdom Brain Expression Consortium (UKBEC)

doi:10.1002/mds.29155

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

United Kingdom Brain Expression Consortium (UKBEC)

Research output: Contribution to journal › Comment/debate

7 Scopus citations

Original language	English
Pages (from-to)	2161-2162
Number of pages	2
Journal	Movement Disorders
Volume	37
Issue number	10
DOIs	https://doi.org/10.1002/mds.29155
State	Published - Oct 2022
Externally published	Yes

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10.1002/mds.29155

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@article{a9e5e7eadca94910b16fa03d8c497a97,

title = "Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population",

author = "\{United Kingdom Brain Expression Consortium (UKBEC)\} and Billingsley, \{Kimberley J.\} and \{Alvarez Jerez\}, Pilar and Grenn, \{Francis P.\} and Sara Bandres-Ciga and Laksh Malik and Dena Hernandez and Ali Torkamani and Mina Ryten and John Hardy and Scholz, \{Sonja W.\} and Traynor, \{Bryan J.\} and Dalgard, \{Clifton L.\} and Ehrlich, \{Debra J.\} and Toshiko Tanaka and Luigi Ferrucci and Beach, \{Thomas G.\} and Serrano, \{Geidy E.\} and Jinhui Ding and Gibbs, \{J. Raphael\} and Cornelis Blauwendraat and Singleton, \{Andrew B.\}",

note = "Funding Information: : This work was supported in part by the Intramural Research Programs of the National Institute on Aging (NIA) and the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, Department of Health and Human Services; project numbers Z01‐AG000949, 1ZIANS003154. Funding agency Funding Information: We thank all of the participants who donated their time and biological samples to be a part of this study. This work was supported in part by the Intramural Research Programs of the National Institute on Aging (NIA) and the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, Department of Health and Human Services; project numbers Z01-AG000949, 1ZIANS003154. This work used the computational resources of the NIH HPC Biowulf cluster (http://hpc.nih.gov). We also thank Egor Dolzhenko for his ongoing support with the ExpansionHunter tool and other tandem repeat analysis tools. Data used in the preparation of this article were partly obtained from the Accelerating Medicine Partnership (AMP) Parkinson's Disease (AMP PD) Knowledge Platform. For up-to-date information on the study, visit https://www.amp-pd.org. The AMP PD program is a public-private partnership managed by the Foundation for the National Institutes of Health and funded by the National Institute of Neurological Disorders and Stroke (NINDS) in partnership with the Aligning Science Across Parkinson's (ASAP) initiative; Celgene Corporation, a subsidiary of Bristol-Myers Squibb Company; GlaxoSmithKline plc (GSK); The Michael J. Fox Foundation (MJFF) for Parkinson's Research; Pfizer; Sanofi US Services; and Verily Life Sciences. Accelerating medicines partnership and AMP are registered service marks of the United States Department of Health and Human Services. Clinical data and biosamples used in preparation of this article were obtained from the MJFF and National Institutes of Neurological Disorders and Stroke (NINDS) BioFIND study, Harvard Biomarkers Study (HBS), the NINDS Parkinson's disease Biomarkers Program (PDBP) and MJFF Parkinson's Progression Marker Initiative (PPMI). BioFIND is sponsored by MJFF for Parkinson's Research with support from NINDS. The BioFIND Investigators have not participated in reviewing the data analysis or content of the manuscript. For up-to-date information on the study, visit michaeljfox.org/news/biofind. The HBS is a collaboration of HBS investigators (full list of HBS investigator found at https://www.bwhparkinsoncenter.org/biobank/) and funded through philanthropy and National Institutes of Health (NIH) and non-NIH funding sources. The HBS Investigators have not participated in reviewing the data analysis or content of the manuscript. Parkinson's Progression Markers Initiative (PPMI)—a public-private partnership—is funded by MJFF Parkinson's Research and funding partners, a full list of the PPMI funding partners can be found at https://www.ppmi-info.org/fundingpartners. The PPMI Investigators have not participated in reviewing the data analysis or content of the manuscript. For up-to-date information on the study, visit www.ppmi-info.org. Parkinson's Disease Biomarker Program (PDBP) consortium is supported by NINDS at the NIH. A full list of PDBP investigators can be found at https://pdbp.ninds.nih.gov/policy. The PDBP Investigators have not participated in reviewing the data analysis or content of the manuscript. This work is supported by Scripps Research Translational Institute's Wellderly study, an NIH-NCATS Clinical and Translational Science Award (CTSA; 5 UL1TR002550). The United Kingdom Brain Expression Consortium (UKBEC) members include; Juan A. Bot{\'i}a, University of Murcia and UCL Great Ormond Street Institute of Child Health, Karishma D'Sa, Crick Institute, Paola Forabosco, Istituto di Ricerca Genetica e Biomedica, Italy, Sebastian Guelfi, Verge Genomics and UCL Great Ormond Street Institute of Child Health, Adaikalavan Ramasamy, Singapore Institute for Clinical Sciences, Regina H. Reynolds, UCL Great Ormond Street Institute of Child Health, Colin Smith, The University of Edinburgh, Daniah Trabzuni, UCL Queen Square Institute of Neurology, Robert Walker, The University of Edinburgh, Michael E. Weale, Genomics Plc, Oxford, United Kingdom (UK). This work was supported by the UK Dementia Research Institute, which receives its funding from DRI, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. Medical Research Council (MR/N026004/1) and Medical Research Council (MR/N026004/1). We thank the Baltimore Longitudinal Study of Aging (BLSA) for providing control genomes and clinical data (www.blsa.nih.gov). LNG Path confirmed: We are grateful to the Banner Sun Health Research Institute Brain and Body Donation Program of Sun City, Arizona for the provision of human biological materials (or specific description, eg, brain tissue, cerebrospinal fluid). The Brain and Body Donation Program has been supported by NINDS (U24 NS072026 National Brain and Tissue Resource for Parkinson's Disease and Related Disorders), the National Institute on Aging (P30 AG19610 Arizona Alzheimer's Disease Core Center), the Arizona Department of Health Services (contract 211002, Arizona Alzheimer's Research Center), the Arizona Biomedical Research Commission (contracts 4001, 0011, 05-901, and 1001 to the Arizona Parkinson's Disease Consortium) and MJFF for Parkinson's Research. We thank the NIH NeuroBioBank for the provision of tissue samples.",

year = "2022",

month = oct,

doi = "10.1002/mds.29155",

language = "English",

volume = "37",

pages = "2161--2162",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

number = "10",

}

TY - JOUR

T1 - Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

AU - United Kingdom Brain Expression Consortium (UKBEC)

AU - Billingsley, Kimberley J.

AU - Alvarez Jerez, Pilar

AU - Grenn, Francis P.

AU - Bandres-Ciga, Sara

AU - Malik, Laksh

AU - Hernandez, Dena

AU - Torkamani, Ali

AU - Ryten, Mina

AU - Hardy, John

AU - Scholz, Sonja W.

AU - Traynor, Bryan J.

AU - Dalgard, Clifton L.

AU - Ehrlich, Debra J.

AU - Tanaka, Toshiko

AU - Ferrucci, Luigi

AU - Beach, Thomas G.

AU - Serrano, Geidy E.

AU - Ding, Jinhui

AU - Gibbs, J. Raphael

AU - Blauwendraat, Cornelis

AU - Singleton, Andrew B.

N1 - Funding Information: : This work was supported in part by the Intramural Research Programs of the National Institute on Aging (NIA) and the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, Department of Health and Human Services; project numbers Z01‐AG000949, 1ZIANS003154. Funding agency Funding Information: We thank all of the participants who donated their time and biological samples to be a part of this study. This work was supported in part by the Intramural Research Programs of the National Institute on Aging (NIA) and the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, Department of Health and Human Services; project numbers Z01-AG000949, 1ZIANS003154. This work used the computational resources of the NIH HPC Biowulf cluster (http://hpc.nih.gov). We also thank Egor Dolzhenko for his ongoing support with the ExpansionHunter tool and other tandem repeat analysis tools. Data used in the preparation of this article were partly obtained from the Accelerating Medicine Partnership (AMP) Parkinson's Disease (AMP PD) Knowledge Platform. For up-to-date information on the study, visit https://www.amp-pd.org. The AMP PD program is a public-private partnership managed by the Foundation for the National Institutes of Health and funded by the National Institute of Neurological Disorders and Stroke (NINDS) in partnership with the Aligning Science Across Parkinson's (ASAP) initiative; Celgene Corporation, a subsidiary of Bristol-Myers Squibb Company; GlaxoSmithKline plc (GSK); The Michael J. Fox Foundation (MJFF) for Parkinson's Research; Pfizer; Sanofi US Services; and Verily Life Sciences. Accelerating medicines partnership and AMP are registered service marks of the United States Department of Health and Human Services. Clinical data and biosamples used in preparation of this article were obtained from the MJFF and National Institutes of Neurological Disorders and Stroke (NINDS) BioFIND study, Harvard Biomarkers Study (HBS), the NINDS Parkinson's disease Biomarkers Program (PDBP) and MJFF Parkinson's Progression Marker Initiative (PPMI). BioFIND is sponsored by MJFF for Parkinson's Research with support from NINDS. The BioFIND Investigators have not participated in reviewing the data analysis or content of the manuscript. For up-to-date information on the study, visit michaeljfox.org/news/biofind. The HBS is a collaboration of HBS investigators (full list of HBS investigator found at https://www.bwhparkinsoncenter.org/biobank/) and funded through philanthropy and National Institutes of Health (NIH) and non-NIH funding sources. The HBS Investigators have not participated in reviewing the data analysis or content of the manuscript. Parkinson's Progression Markers Initiative (PPMI)—a public-private partnership—is funded by MJFF Parkinson's Research and funding partners, a full list of the PPMI funding partners can be found at https://www.ppmi-info.org/fundingpartners. The PPMI Investigators have not participated in reviewing the data analysis or content of the manuscript. For up-to-date information on the study, visit www.ppmi-info.org. Parkinson's Disease Biomarker Program (PDBP) consortium is supported by NINDS at the NIH. A full list of PDBP investigators can be found at https://pdbp.ninds.nih.gov/policy. The PDBP Investigators have not participated in reviewing the data analysis or content of the manuscript. This work is supported by Scripps Research Translational Institute's Wellderly study, an NIH-NCATS Clinical and Translational Science Award (CTSA; 5 UL1TR002550). The United Kingdom Brain Expression Consortium (UKBEC) members include; Juan A. Botía, University of Murcia and UCL Great Ormond Street Institute of Child Health, Karishma D'Sa, Crick Institute, Paola Forabosco, Istituto di Ricerca Genetica e Biomedica, Italy, Sebastian Guelfi, Verge Genomics and UCL Great Ormond Street Institute of Child Health, Adaikalavan Ramasamy, Singapore Institute for Clinical Sciences, Regina H. Reynolds, UCL Great Ormond Street Institute of Child Health, Colin Smith, The University of Edinburgh, Daniah Trabzuni, UCL Queen Square Institute of Neurology, Robert Walker, The University of Edinburgh, Michael E. Weale, Genomics Plc, Oxford, United Kingdom (UK). This work was supported by the UK Dementia Research Institute, which receives its funding from DRI, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. Medical Research Council (MR/N026004/1) and Medical Research Council (MR/N026004/1). We thank the Baltimore Longitudinal Study of Aging (BLSA) for providing control genomes and clinical data (www.blsa.nih.gov). LNG Path confirmed: We are grateful to the Banner Sun Health Research Institute Brain and Body Donation Program of Sun City, Arizona for the provision of human biological materials (or specific description, eg, brain tissue, cerebrospinal fluid). The Brain and Body Donation Program has been supported by NINDS (U24 NS072026 National Brain and Tissue Resource for Parkinson's Disease and Related Disorders), the National Institute on Aging (P30 AG19610 Arizona Alzheimer's Disease Core Center), the Arizona Department of Health Services (contract 211002, Arizona Alzheimer's Research Center), the Arizona Biomedical Research Commission (contracts 4001, 0011, 05-901, and 1001 to the Arizona Parkinson's Disease Consortium) and MJFF for Parkinson's Research. We thank the NIH NeuroBioBank for the provision of tissue samples.

PY - 2022/10

Y1 - 2022/10

UR - https://www.scopus.com/pages/publications/85134566348

U2 - 10.1002/mds.29155

DO - 10.1002/mds.29155

M3 - Comment/debate

C2 - 35866887

AN - SCOPUS:85134566348

SN - 0885-3185

VL - 37

SP - 2161

EP - 2162

JO - Movement Disorders

JF - Movement Disorders

IS - 10

ER -