{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T03:08:21Z","timestamp":1784257701239,"version":"3.55.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":764,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T00:00:00Z","timestamp":1699401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["L40 TR001136"],"award-info":[{"award-number":["L40 TR001136"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of California Davis Center for Equine Health"},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["L40 TR001136"],"award-info":[{"award-number":["L40 TR001136"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Equine neuroaxonal dystrophy\/equine degenerative myeloencephalopathy (eNAD\/EDM) is an inherited neurodegenerative disorder associated with vitamin E deficiency. In humans, polymorphisms in genes involved in vitamin E uptake and distribution determines individual vitamin E requirements.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>Genetic polymorphisms in genes involved in vitamin E metabolism would be associated with an increased risk of eNAD\/EDM in Quarter Horses (QHs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>Whole-genome sequencing: eNAD\/EDM affected (n\u2009=\u20099, postmortem [PM]-confirmed) and control (n\u2009=\u200932) QHs. Validation: eNAD\/EDM affected (n\u2009=\u200939, 23-PM confirmed) and control (n\u2009=\u200968, 7-PM confirmed) QHs. Allele frequency (AF): Publicly available data from 504 horses across 47 breeds.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective, case control study. Whole-genome sequencing was performed and genetic variants identified within 28 vitamin E candidate genes. These variants were subsequently genotyped in the validation cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Thirty-nine confirmed variants in 15 vitamin E candidate genes were significantly associated with eNAD\/EDM (P\u2009&amp;lt;\u2009.01). In the validation cohort, 2 intronic CD36 variants (chr4:726485 and chr4:731082) were significantly associated with eNAD\/EDM in clinical (P\u2009=\u20092.78\u2009\u00d7\u200910\u22124 and P\u2009=\u20094\u2009\u00d7\u200910\u22124, respectively) and PM-confirmed cases (P\u2009=\u20096.32\u2009\u00d7\u200910\u22126 and 1.04\u2009\u00d7\u200910\u22125, respectively). Despite the significant association, variant AFs were low in the postmortem-confirmed eNAD\/EDM cases (0.22-0.26). In publicly available equine genomes, AFs ranged from 0.06 to 0.1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and Clinical Importance<\/jats:title>\n                    <jats:p>Many PM-confirmed cases of eNAD\/EDM were wild-type for the 2 intronic CD36 SNPs, suggesting either a false positive association or genetic heterogeneity of eNAD\/EDM within the QH breed.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.16924","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T06:45:05Z","timestamp":1699425905000},"page":"417-423","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic polymorphisms in vitamin E transport genes as determinants for risk of equine neuroaxonal dystrophy"],"prefix":"10.1093","volume":"38","author":[{"given":"Yunzhuo","family":"Ma","sequence":"first","affiliation":[{"name":"School of Veterinary Medicine, University of California-Davis Department of Population Health and Reproduction, , Davis, California 95616,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sichong","family":"Peng","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, University of California-Davis Department of Population Health and Reproduction, , Davis, California 95616,","place":["USA"]},{"name":"Eclipsebio , San Diego, California 92121,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1503-1419","authenticated-orcid":false,"given":"Callum G.","family":"Donnelly","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, University of California-Davis Department of Population Health and Reproduction, , Davis, California 95616,","place":["USA"]},{"name":"Cornell University College of Veterinary Medicine , Ithaca, New York 14853,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharmila","family":"Ghosh","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, University of California-Davis Department of Population Health and Reproduction, , Davis, California 95616,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew D.","family":"Miller","sequence":"additional","affiliation":[{"name":"Section of Anatomic Pathology, Cornell University College of Veterinary Medicine Department of Biomedical Sciences, , Ithaca, New York 14853,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Woolard","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, University of California-Davis Department of Pathology and Immunology, , Davis, California 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