Genetic determinants of intracranial large artery stenosis in the northern Manhattan study.
| Title: | Genetic determinants of intracranial large artery stenosis in the northern Manhattan study. |
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| Authors: | Liu M; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Sariya S; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; The Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Khasiyev F; Department of Neurology, Saint Louis University, Saint Louis, MO, USA.; Tosto G; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; The Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Dueker ND; John P. Hussman Institute for Human Genomics, University of Miami, FL, USA.; Cheung YK; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.; Wright CB; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Sacco RL; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, FL, USA.; Rundek T; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.; Elkind MSV; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.; Gutierrez J; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: jg3233@cumc.columbia.edu. |
| Source: | Journal of the neurological sciences [J Neurol Sci] 2022 May 15; Vol. 436, pp. 120218. Date of Electronic Publication: 2022 Mar 03. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Amsterdam : Elsevier, |
| MeSH Terms: | Cytochrome P-450 CYP11B2*/genetics ; Arteries*; Adenosine Triphosphatases/genetics ; Apolipoproteins E/genetics ; Genetic Predisposition to Disease/genetics ; Ubiquitin-Protein Ligases/genetics ; Aged ; Constriction, Pathologic ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies ; Risk Factors |
| Abstract: | Background: Intracranial 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.; Methods: We 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).; Results: We 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.; Conclusion: The 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.; (Copyright © 2022 Elsevier B.V. All rights reserved.) |
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| Grant Information: | R56 NS029993 United States NS NINDS NIH HHS; R37 NS029993 United States NS NINDS NIH HHS; R01 AG057709 United States AG NIA NIH HHS; R01 NS029993 United States NS NINDS NIH HHS; R01 NS036286 United States NS NINDS NIH HHS; R01 AG066162 United States AG NIA NIH HHS |
| Contributed Indexing: | Keywords: Aldosterone synthase; Epidemiologic studies; Genetic predisposition to disease; Intracranial large artery stenosis; Lipoprotein lipase |
| Substance Nomenclature: | 0 (Apolipoproteins E); EC 1.14.15.4 (Cytochrome P-450 CYP11B2); EC 2.3.2.27 (RNF213 protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases); EC 3.6.1.- (Adenosine Triphosphatases) |
| Entry Date(s): | Date Created: 20220308 Date Completed: 20220419 Latest Revision: 20240923 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC9018518 |
| DOI: | 10.1016/j.jns.2022.120218 |
| PMID: | 35259553 |
| Database: | MEDLINE |
Journal Article; Research Support, N.I.H., Extramural