{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:36:15Z","timestamp":1791315375781,"version":"4.3.1"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T00:00:00Z","timestamp":1653955200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["1ZIA-NS003169"],"award-info":[{"award-number":["1ZIA-NS003169"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["1ZIA-NS003154"],"award-info":[{"award-number":["1ZIA-NS003154"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["Z01-AG000949-02"],"award-info":[{"award-number":["Z01-AG000949-02"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["Z01-ES10198"],"award-info":[{"award-number":["Z01-ES10198"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>PRKN mutations are the most common recessive cause of Parkinson\u2019s disease and are a promising target for gene and cell replacement therapies. Identification of biallelic PRKN patients at the population scale, however, remains a challenge, as roughly half are copy number variants and many single nucleotide polymorphisms are of unclear significance. Additionally, the true prevalence and disease risk associated with heterozygous PRKN mutations is unclear, as a comprehensive assessment of PRKN mutations has not been performed at a population scale.<\/jats:p>\n                  <jats:p>To address these challenges, we evaluated PRKN mutations in two cohorts with near complete genotyping of both single nucleotide polymorphisms and copy number variants: the NIH-PD\u2009+\u2009AMP-PD cohort, the largest Parkinson\u2019s disease case-control cohort with whole genome sequencing data from 4094 participants, and the UK Biobank, the largest cohort study with whole exome sequencing and genotyping array data from 200\u2009606 participants. Using the NIH-PD participants, who were genotyped using whole genome sequencing, genotyping array, and multi-plex ligation-dependent probe amplification, we validated genotyping array for the detection of copy number variants. Additionally, in the NIH-PD cohort, functional assays of patient fibroblasts resolved variants of unclear significance in biallelic carriers and suggested that cryptic loss of function variants in monoallelic carriers are not a substantial confounder for association studies.<\/jats:p>\n                  <jats:p>In the UK Biobank, we identified 2692 PRKN copy number variants from genotyping array data from nearly half a million participants (the largest collection to date). Deletions or duplications involving exon 2 accounted for roughly half of all copy number variants and the vast majority (88%) involved exons 2, 3, or 4. In the UK Biobank, we found a pathogenic PRKN mutation in 1.8% of participants and two mutations in \u223c1\/7800 participants. Those with one PRKN pathogenic variant were as likely as non-carriers to have Parkinson\u2019s disease [odds ratio\u2009=\u20090.91 (0.58\u20131.38), P-value 0.76] or a parent with Parkinson\u2019s disease [odds ratio\u2009=\u20091.12 (0.94\u20131.31), P-value\u2009=\u20090.19]. Similarly, those in the NIH-PD\u2009+\u2009AMP\u2009+\u2009PD cohort with one PRKN pathogenic variant were as likely as non-carriers to have Parkinson\u2019s disease [odds ratio\u2009=\u20091.29 (0.74\u20132.38), P-value\u2009=\u20090.43].<\/jats:p>\n                  <jats:p>Together our results demonstrate that heterozygous pathogenic PRKN mutations are common in the population but do not increase the risk of Parkinson\u2019s disease.<\/jats:p>","DOI":"10.1093\/brain\/awab456","type":"journal-article","created":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T15:16:42Z","timestamp":1639408602000},"page":"2077-2091","source":"Crossref","is-referenced-by-count":72,"title":["Heterozygous\n                    <i>PRKN<\/i>\n                    mutations are common but do not increase the risk of Parkinson\u2019s disease"],"prefix":"10.1093","volume":"145","author":[{"given":"William","family":"Zhu","sequence":"first","affiliation":[{"name":"Inherited Disorders Unit, Neurogenetics 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Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9358-8111","authenticated-orcid":false,"given":"Cornelis","family":"Blauwendraat","sequence":"additional","affiliation":[{"name":"Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892-3705 , USA"},{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly J","family":"Billingsley","sequence":"additional","affiliation":[{"name":"Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua H","family":"Cade","sequence":"additional","affiliation":[{"name":"Inherited Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly P","family":"Wu","sequence":"additional","affiliation":[{"name":"Inherited Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria H","family":"Williams","sequence":"additional","affiliation":[{"name":"Inherited Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice B","family":"Schindler","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, Neurogenetics Branch, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Brooks","sequence":"additional","affiliation":[{"name":"Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6985-0658","authenticated-orcid":false,"given":"J Raphael","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dena G","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra","family":"Ehrlich","sequence":"additional","affiliation":[{"name":"Parkinson\u2019s Disease Clinic, Office of the Clinical Director, National Institute of Neurological, Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892-3705 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew B","family":"Singleton","sequence":"additional","affiliation":[{"name":"Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892-3705 , USA"},{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institutes of 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