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We aimed to explore the relationship between these genes and AD in the Chinese population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eight VaD\u2010associated genes were screened by a targeted sequencing panel in a sample of 3604 individuals comprising 1192 AD patients and 2412 cognitively normal controls. Variants were categorized into common variants and rare variants according to minor allele frequency (MAF). Common variant (MAF\u00a0\u2265\u00a00.01)\u2010based association analysis was conducted by PLINK 1.9. Rare variant (MAF\u00a0&lt;\u00a00.01) association study and gene\u2010based aggregation testing of rare variants were performed by PLINK 1.9 and Sequence Kernel Association Test\u2010Optimal (SKAT\u2010O test), respectively. Age at onset (AAO) and Mini\u2010Mental State Examination (MMSE) association studies were performed with PLINK 1.9. Analyses were adjusted for age, gender, and <jats:italic>APOE<\/jats:italic> \u03b54\u00a0status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four common <jats:italic>COL4A1<\/jats:italic> variants, including rs874203, rs874204, rs16975492, and rs1373744, exhibited suggestive associations with AD. Five rare variants, <jats:italic>NOTCH3<\/jats:italic> rs201436750, <jats:italic>COL4A1<\/jats:italic> rs747972545, <jats:italic>COL4A1<\/jats:italic> rs201481886, <jats:italic>CST3<\/jats:italic> rs765692764, and <jats:italic>CST3<\/jats:italic> rs140837441, showed nominal association with AD risk. Gene\u2010based aggregation testing revealed that <jats:italic>HTRA1<\/jats:italic> was nominally associated with AD. In the AAO and MMSE association studies, variants in <jats:italic>GSN<\/jats:italic>, <jats:italic>ITM2B<\/jats:italic>, and <jats:italic>COL4A1<\/jats:italic> reached suggestive significance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Common variants in <jats:italic>COL4A1<\/jats:italic> and rare variants in <jats:italic>HTRA1<\/jats:italic>, <jats:italic>NOTCH3<\/jats:italic>, <jats:italic>COL4A1<\/jats:italic>, and <jats:italic>CST3<\/jats:italic>\u00a0may be implicated in AD pathogenesis. Besides, <jats:italic>GSN<\/jats:italic>, <jats:italic>ITM2B<\/jats:italic>, and <jats:italic>COL4A1<\/jats:italic> are probably involved in the development of AD endophenotypes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cns.13730","type":"journal-article","created":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T16:40:35Z","timestamp":1632328835000},"page":"1531-1539","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case\u2013control study in the Chinese population"],"prefix":"10.1111","volume":"27","author":[{"given":"Xuewen","family":"Xiao","sequence":"first","affiliation":[{"name":"Department of Neurology Xiangya Hospital Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neurology 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