{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T09:06:43Z","timestamp":1780391203042,"version":"3.54.1"},"reference-count":55,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Outstanding Youth Fund of Hunan Provincial Natural Science Foundation","award":["2024JJ2097"],"award-info":[{"award-number":["2024JJ2097"]}]},{"name":"Hunan Health Commission","award":["20232460"],"award-info":[{"award-number":["20232460"]}]},{"name":"Youth Fund of Hunan Provincial Natural Science Foundation","award":["2025JJ60696"],"award-info":[{"award-number":["2025JJ60696"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U22A20300, 82071216, 82371434"],"award-info":[{"award-number":["U22A20300, 82071216, 82371434"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Grant of National Clinical Research Center for Geriatric Disorders, Xiangya Hospital","award":["2022LNJJ16"],"award-info":[{"award-number":["2022LNJJ16"]}]},{"name":"STI2030-Major Projects","award":["2021ZD0201803"],"award-info":[{"award-number":["2021ZD0201803"]}]},{"name":"Hunan Innovative Province Construction Project","award":["2021SK1010"],"award-info":[{"award-number":["2021SK1010"]}]},{"DOI":"10.13039\/501100004735","name":"Hunan Provincial Natural Science Foundation of China","doi-asserted-by":"crossref","award":["2023JJ40792"],"award-info":[{"award-number":["2023JJ40792"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Science and Technology Major Project of Hunan Province","award":["2021SK1020"],"award-info":[{"award-number":["2021SK1020"]}]},{"name":"Postdoctoral Fellowship Program of CPSF","award":["GZC20233185"],"award-info":[{"award-number":["GZC20233185"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Research on the mitochondrial genome variants of Alzheimer's disease (AD) in Chinese populations is lacking.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The study aimed to identify mitochondrial DNA (mtDNA) variants associated with AD risk and explore the relationship between mtDNA variants and plasma biomarkers in AD patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole genome sequencing was performed in 1509 AD patients and 2010 controls from the Chinese population. mtDNA variants were called according to GATK's best practice mitochondrial pipeline. We evaluated the association of AD risk with mtDNA variants and mitochondrial haplogroup. Common variant (MAF\u22650.01) based association analysis and gene-based tests of rare variants (MAF&lt;0.01) were carried out with PLINK 1.9 and SKAT-O, respectively. Spearman correlation analysis was performed to assess the association between the burden of mtDNA variants and plasma biomarker levels.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The frequency of mitochondrial haplogroup G in AD group was nominally higher than control group (p\u2009=\u20090.019, OR = 1.48). Rare variants of\n                      <jats:italic toggle=\"yes\">MT-CYB<\/jats:italic>\n                      gene were significantly enriched in controls compared to AD patients (p\u2009=\u20092.81\u2009\u00d7\u200910\n                      <jats:sup>\u22124<\/jats:sup>\n                      , OR = 0.886). Besides, the control group exhibited considerably lower mRNA expression of\n                      <jats:italic toggle=\"yes\">MT-CYB<\/jats:italic>\n                      in brain regions compared to AD patients in GEO database. Furthermore, the number of mtDNA indel variants per individual correlated positively with plasma A\u03b242 levels.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Mitochondrial haplogroup G may serve as a risk factor for AD, while rare variants of\n                      <jats:italic toggle=\"yes\">MT-CYB<\/jats:italic>\n                      gene acted as protective factor against AD in mainland China. Moreover, mtDNA variants were related to AD plasma biomarker levels. Our findings highlighted the role of mitochondrial genome variants in the pathogenesis of AD.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/13872877261442231","type":"journal-article","created":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T06:59:35Z","timestamp":1778309975000},"page":"1350-1361","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Association of mitochondrial genome variants with Alzheimer's disease in a Chinese population"],"prefix":"10.1177","volume":"111","author":[{"given":"Xiaoli","family":"Hao","sequence":"first","affiliation":[{"name":"Xiangya Hospital, Central South University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Jiao","sequence":"additional","affiliation":[{"name":"Xiangya Hospital, Central South University"},{"name":"Xiangya Hospital, Central South University"},{"name":"Engineering Research Center of 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