ArticleCNS neuroscience & therapeutics2021
The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population.
Article in CNS neuroscience & therapeutics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 16 citations in OpenAlex.
- Neuroimaging and Genetic Markers of Cerebral Small Vessel Disease and Cognitive Outcomes: A Systematic Review and Meta-Analysis (NEUROGEN-SVD Study).Diagnostics (Basel, Switzerland) · 2025Article
- Insulin-Like Growth Factor Signaling in Alzheimer's Disease: Pathophysiology and Therapeutic Strategies.Molecular neurobiology · 2025Review
- Identification of Cystatin 3 as a Potential Diagnostic Biomarker for Osteoporosis Using Machine Learning.Journal of inflammation research · 2025Article
- Genomic Insights into Dementia: Precision Medicine and the Impact of Gene-Environment Interaction.Aging and disease · 2024Review
- Identification of highly potent and selective HTRA1 inhibitors.Bioorganic & medicinal chemistry letters · 2024Article
- HDL levels modulate the impact of type 2 diabetes susceptibility alleles in older adults.Lipids in health and disease · 2024Article
- Advanced Overview of Biomarkers and Techniques for Early Diagnosis of Alzheimer's Disease.Cellular and molecular neurobiology · 2023Review
- Reconsidering the role of blood-brain barrier in Alzheimer's disease: From delivery to target.Frontiers in aging neuroscience · 2023Review
- Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.Molecular genetics & genomic medicine · 2022Review
- The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population.CNS neuroscience & therapeutics · 2021Article
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18 authors at 1 institution in 1 country.
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Abstract
aimThe 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.
methodsEight 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 < 0.01) association study and gene-based aggregation testing of rare variants were performed by PLINK 1.9 and Sequence Kernel Association Test-Optimal (SKAT-O test), respectively. Age at onset (AAO) and Mini-Mental State Examination (MMSE) association studies were performed with PLINK 1.9. Analyses were adjusted for age, gender, and APOE ε4 status.
resultsFour common COL4A1 variants, including rs874203, rs874204, rs16975492, and rs1373744, exhibited suggestive associations with AD. Five rare variants, NOTCH3 rs201436750, COL4A1 rs747972545, COL4A1 rs201481886, CST3 rs765692764, and CST3 rs140837441, showed nominal association with AD risk. Gene-based aggregation testing revealed that HTRA1 was nominally associated with AD. In the AAO and MMSE association studies, variants in GSN, ITM2B, and COL4A1 reached suggestive significance.
conclusionCommon variants in COL4A1 and rare variants in HTRA1, NOTCH3, COL4A1, and CST3 may be implicated in AD pathogenesis. Besides, GSN, ITM2B, and COL4A1 are probably involved in the development of AD endophenotypes.
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