The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case–control study in the Chinese population

Aim The role of vascular dementia (VaD)‐associated genes in Alzheimer's disease (AD) remains elusive despite similar clinical and pathological features. We aimed to explore the relationship between these genes and AD in the Chinese population. Methods Eight VaD‐associated 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 ≥ 0.01)‐based association analysis was conducted by PLINK 1.9. Rare variant (MAF
In this study, we systematically explored the relationship between Alzheimer's disease (AD) and vascular dementia (VaD)‐associated genes in a total of 3604 individuals in mainland China. The common variant association test revealed that common variants in COLA41 were nominally associated with AD. Gene‐based association analysis indicated that HTRA1 may contribute to the etiology of AD. The rare variant association test showed that variants in NOTCH3, COL4A1, and CST3 exhibited nominal association with AD risk. Additionally, variants in GSN, ITM2B, and COL4A1 may be involved in the development of AD endophenotypes.