ArticleJournal of the neurological sciences2022
Genetic determinants of intracranial large artery stenosis in the northern Manhattan study.
Article in Journal of the neurological sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Relationship between estimating glomerular filtration rate and cerebral large artery stenosis: a secondary analysis of a cross-sectional study.Frontiers in medicine · 2026Article
- Intracranial atherosclerotic stenosis in Asia: a systematic scoping and rapid review of prevalence, frequency in ischaemic stroke and risk factors.BMJ neurology open · 2025Article
- Intracranial atherosclerotic disease and neurodegeneration: a narrative review and plausible mechanisms.Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2024Review
- Prevalence, diagnosis and management of intracranial atherosclerosis in White populations: a narrative review.Neurological research and practice · 2024Review
- Association of estimated pulse wave velocity with cognitive function in a multiethnic diverse population: The Northern Manhattan Study.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Article
- Apolipoprotein E genotypes were not associated with intracranial atherosclerosis: a population-based autopsy study.Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyArticle
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11 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundIntracranial stenosis is one of the most common causes of stroke worldwide. Several single nucleotide polymorphisms have been associated with intracranial atherosclerosis, which is inferred to be the most common underlying cause of intracranial large artery stenosis (ILAS). We previously reviewed known genetic variants related to ILAS in predominantly Asian cohorts, but their prevalence and role in ILAS among western multiethnic populations are uncertain.
methodsWe leveraged existing imaging and genetic data from the Northern Manhattan Study, a multiethnic prospective cohort study. Based on literature review, we selected adiponectin Q (ADIPOQ) rs2241767 and rs182052, ring finger protein 213 (RNF213) rs112735431, apolipoprotein E (APOE) rs429358, phosphodiesterase 4D (PDE4D) rs2910829, lipoprotein lipase (LPL) rs320, and aldosterone synthase (CYP11B2) rs1799998 variants as candidates to explore. We defined ILAS as luminal stenosis >50% in any intracranial large artery using time-of-flight magnetic resonance angiography (MRA).
resultsWe included 1109 participants (mean age 70 ± 9 years, 70% Hispanic, 60% women) in this study. ILAS was identified in 81 (7%) NOMAS participants. Logistic regression analyses adjusted for age, sex, principal components, and vascular risk factors showed ILAS prevalence associated with CYP11B2 rs1799998 under the dominant model (OR = 0.56, 95%CI: 0.35-0.89) and LPL rs320 heterozygote genotype (OR = 1.68, 95%CI: 1.05-2.71). The genotype distributions of ADIPOQ rs2241767 and rs182052, APOE rs429358 and CYP11B2 rs1799998 variants were significantly different among non-Hispanic white and Black, and Hispanic groups. When participants were further stratified by race/ethnicity, the estimates were consistent for CYP11B2 rs1799998 across race/ethnic groups but not for LPL rs320.
conclusionThe CYP11B2 rs1799998 variant may be a protective genetic factor for ILAS across race/ethnic groups, but the risk of ILAS associated with LPL rs320 varies by race/ethnic group. Further functional studies may help elucidate the role that these variants play in the pathophysiology of ILAS.
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