{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T17:07:24Z","timestamp":1779901644783,"version":"3.53.1"},"reference-count":61,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2022,2,14]],"date-time":"2022-02-14T00:00:00Z","timestamp":1644796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Cereb Blood Flow Metab"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:p>Brain arteriolosclerosis (B-ASC) is characterized by pathologically altered brain parenchymal arterioles. B-ASC is associated with cognitive impairment and increased likelihood of clinical dementia. To date, no study has been conducted on genome-wide genetic risk of autopsy-proven B-ASC. We performed a genome-wide association study (GWAS) of the B-ASC phenotype using multiple independent aged neuropathologic cohorts. Included in the study were participants with B-ASC autopsy and genotype data available from the NACC, ROSMAP, ADNI, and ACT data sets. Initial Stage 1 GWAS ( n\u2009=\u20093382) and Stage 2 mega-analysis ( n\u2009=\u20094569) were performed using data from the two largest cohorts (NACC and ROSMAP). Replication of top variants and additional Stage 3 mega-analysis were performed incorporating two smaller cohorts (ADNI and ACT). Lead variants in the top two loci in the Stage 2 mega-analysis (rs7902929, p\u2009=\u2009[Formula: see text]; rs2603462, p\u2009=\u2009[Formula: see text]) were significant in the ADNI cohort (rs7902929, p\u2009=\u2009[Formula: see text]; rs2603462, p = [Formula: see text]). The rs2603462 lead variant colocalized with ELOVL4 expression in the cerebellum (posterior probability\u2009=\u200990.1%). Suggestive associations were also found near SORCS1 and SORCS3. We thus identified putative loci associated with B-ASC risk, but additional replication is needed.<\/jats:p>","DOI":"10.1177\/0271678x211066299","type":"journal-article","created":{"date-parts":[[2022,2,14]],"date-time":"2022-02-14T07:54:01Z","timestamp":1644825241000},"page":"1437-1450","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Genome-wide association study of brain arteriolosclerosis"],"prefix":"10.1177","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6093-4823","authenticated-orcid":false,"given":"Lincoln MP","family":"Shade","sequence":"first","affiliation":[{"name":"Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuriko","family":"Katsumata","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA"},{"name":"Sanders-Brown Center on Aging and Alzheimer\u2019s Disease Research Center, University of Kentucky, Lexington, KY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J","family":"Hohman","sequence":"additional","affiliation":[{"name":"Vanderbilt Memory & Alzheimer\u2019s Center, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwangsik","family":"Nho","sequence":"additional","affiliation":[{"name":"Department of Radiology & Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1376-8532","authenticated-orcid":false,"given":"Andrew J","family":"Saykin","sequence":"additional","affiliation":[{"name":"Department of Radiology & Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubhabrata","family":"Mukherjee","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Washington, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin L","family":"Boehme","sequence":"additional","affiliation":[{"name":"ARUP Laboratories, Salt Lake City, UT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John SK","family":"Kauwe","sequence":"additional","affiliation":[{"name":"Office of the President, Brigham Young University\u2013Hawaii, Laie, HI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay A","family":"Farrer","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston University, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard D","family":"Schellenberg","sequence":"additional","affiliation":[{"name":"Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan L","family":"Haines","sequence":"additional","affiliation":[{"name":"Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P","family":"Mayeux","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie A","family":"Schneider","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pathology, Rush University Medical Center, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter T","family":"Nelson","sequence":"additional","affiliation":[{"name":"Sanders-Brown Center on Aging and Alzheimer\u2019s Disease Research Center, University of Kentucky, Lexington, KY, USA"},{"name":"Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W","family":"Fardo","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA"},{"name":"Sanders-Brown Center on Aging and Alzheimer\u2019s Disease Research Center, University of Kentucky, Lexington, KY, 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