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Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
Open accessAbstract
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1 percent of the population over age 50. Recent studies have confirmed significant familial aggregation of PD and a large number of large multicase families have been documented. Genetic markers on chromosome 4q21-q23 were found to be linked to the PD phenotype in a large kindred with autosomal dominant PD, with a Zmax = 6.00 for marker D4S2380. This finding will facilitate identification of the gene and research on the pathogenesis of PD.
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“Using equations from Wray et al. 2010 and our current heritability estimates, the 88 variant PRS explained a minimum 16% of the genetic liability of PD assuming a global prevalence of 0.5% (2,31).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
Experimental — accuracy not yet measuredIn the citing paper
“In a high-risk population with a prevalence of 2%, the 1805 variant PRS explained a maximum 36% of PD heritable risk (2,31) (Table S4).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
In the citing paper
“Using LDSC on a meta-analysis of all 11 clinically-ascertained datasets from our GWAS and estimated the liability-scale heritability of PD as 0.22 (95% CI 0.18 – 0.26), only slightly lower than a previous estimate derived using GCTA (0.27, 95% CI 0.17 – 0.38) (2,16,30).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
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“Noteworthy, the aSyn gene was the first reported genetic cause of PD.(27)”
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“Synuclein-Alpha (SNCA) was the first PD-associated gene to be identified and is inherited in an autosomal dominant manner (Polymeropoulos et al. 1996).”
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Amir, R. E., den Veyver, I. B. V., Schultz, R., Malicki, D. M., Tran, C. Q., Dahle, E. J., Philippi, A., Tímár, L., Percy, A. K., Motil, K. J., et al. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 351
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Chapter 33 The history of movement disorders
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Epigenetics in Parkinson’s Disease
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Liu, Y., & Lu, Z. (2018) · Clinical and Experimental Pharmacology and Physiology · doi:10.1111/1440-1681.12932 · Cited by 81
Genetics of SynucleinopathiesPreprint
Nussbaum, R. L. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024109 · Cited by 85
“…MUTATIONS Mutations in the gene encoding a-synuclein were first shown to cause hereditary PD two decades ago as the result of a genetic linkage study and positional cloning effort in the large “Contursi kindred” with autosomal dominant PD and Lewy body dementia (Polymeropoulos et al. 1996, 1997).”
BackgroundMicrodeletion and Microduplication Syndromes
Vissers, L. E. L. M., & Stankiewicz, P. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_2 · Cited by 86
Studying neurodegenerative diseases in culture models
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Genomic organization and chromosome localization of the newly identified human heparanase gene
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Genetics of Parkinson's disease
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“In 1996 PD within the Contursi kindred was linked to chromosome 4q21-23 and in 1997 the A53T mutation in the alpha-synuclein gene was identified as the causative mutation (17,18).”
BackgroundGenetic Complexity and Parkinson's Disease
Scott, W. K., Stajich, J. M., Yamaoka, L. H., Speer, M. C., Vance, J. M., Roses, A. D., & Pericak‐Vance, M. A. (1997) · Science · doi:10.1126/science.277.5324.387 · Cited by 78
The genetic basis of Parkinson's disease
Foltynie, T. (2002) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.73.4.363 · Cited by 78
Dopamine agonists and neuroprotection in Parkinson's disease
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The genetic epidemiology of multiple sclerosis
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Targeting the Progression of Parkinsons Disease
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“Resulting from a gradual progressive degeneration of nigrostriatal neurons, PD affects approximately 1% of the population over 50 years of age [333].”
BackgroundThe link between the SNCA gene and parkinsonism
Xu, W., Tan, L., & Yu, J. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.10.042 · Cited by 84
“Also, missense (A53T, A30P, E46K, H50Q, and G51D) (Appel-Cresswell et al., 2013; Kiely et al., 2013; Kruger et al., 1998; Polymeropoulos et al., 1996; Zarranz et al., 2004) and multiplication mutations (duplication and triplication) (Chartier-Harlin et al.”
Wszołek, Z. K., Vieregge, P., Uitti, R. J., Gasser, T., Yasuhara, O., McGeer, P. L., Berry, K., Calne, D. B., Vingerhoets, F. J. G., Klein, C., et al. (1997) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(97)00013-8 · Cited by 76
α-Synuclein in Parkinson disease and other neurodegenerative disorders
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“The aS protein is encoded by the SNCA gene on the long arm of chromosome 4 (10) and localizes to the presynaptic terminals (11).”
Coon, H. H., Myles‐Worsley, M., Tiobech, J., Hoff, M., Rosenthal, J., Bennett, P., Reimherr, F. W., Wender, P. H., Dale, P. W., Polloi, A., et al. (1998) · Molecular Psychiatry · doi:10.1038/sj.mp.4000453 · Cited by 75
Modeling Parkinson’s Disease Using Induced Pluripotent Stem Cells
Byers, B., Lee, H. D., & Pera, R. A. R. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0270-y · Cited by 78
The Identification of Alpha-Synuclein as the First Parkinson Disease Gene
Nussbaum, R. L. (2017) · Journal of Parkinson s Disease · doi:10.3233/jpd-179003 · Cited by 76
“Every patient, save one, with PD in the family had the same set of markers for a particular region of chromosome 4, thereby definitively mapping the gene locus in the Contursi kindred to chromosome 4q21-23 by multipoint linkage analysis [12].”
BackgroundHigh Stability and Cooperative Unfolding of α-Synuclein Oligomers
Pasławski, W., Andreasen, M., Nielsen, S. B., Lorenzen, N., Thomsen, K., Kaspersen, J. D., Pedersen, J. S., & Otzen, D. E. (2014) · Biochemistry · doi:10.1021/bi5007833 · Cited by 73
Metadata
- Authors
- Polymeropoulos, M. H., Higgins, J. J., Golbe, L. I., Johnson, W. G., Ide, S. E., Di Iorio, G., Sanges, G., Stenroos, E. S., Pho, L. T., Schaffer, A. A., Lazzarini, A. M., Nussbaum, R. L., & Duvoisin, R. C.
- Affiliations
- National Institutes of Health (US)
- University of Medicine and Dentistry of New Jersey (US)
- G. Di Iorio and G. Sanges, Istituto di Scienze Neurologiche, Facoltá di Medicina, Seconda Universitá degli Studi di Napoli, Naples, Italy.
- University of Campania "Luigi Vanvitelli" (IT)
- M. H. Polymeropoulos, S. E. Ide, A. A. Schaffer, R. L. Nussbaum, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892-1430, USA.
- Venue
- Science
- Published
- 1996-11-15
- Volume
- 274
- Issue
- 5290
- Pages
- 1197-1199
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1999893655
- Cited by
- 788
- References
- 27
- Citations by year
- 2026: 9 · 2025: 29 · 2024: 21 · 2023: 27 · 2022: 26 · 2021: 18 · 2020: 41 · 2019: 20 · 2018: 21 · 2017: 26 · 2016: 18 · 2015: 23 · 2014: 27 · 2013: 23 · 2012: 17
- FWCI
- 38.08
- Type
- journal article
- Language
- en
- Open access
- green
- zenodo.org
- Licence
- public-domain
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, public-domain)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
- Keywords
- Parkinson's disease, genetic linkage, autosomal dominant inheritance, familial aggregation, gene mapping, neurodegenerative diseases
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 4, Female, Genetic Markers, Humans, Genetic Linkage, Lod Score, Male, Parkinson Disease, Pedigree, Phenotype
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