Literature DB >> 32592869

Association between PNPLA3 rs738409 G variant and MRI cerebrovascular disease biomarkers.

Neal S Parikh1, Nicole Dueker2, Dalila Varela3, Victor J Del Brutto4, Tatjana Rundek5, Clinton B Wright6, Ralph L Sacco7, Mitchell S V Elkind8, Jose Gutierrez3.   

Abstract

INTRODUCTION: Nonalcoholic fatty liver disease (NAFLD) has been associated with greater cerebral white matter hyperintensity (WMH) volume and microbleeds. The adiponutrin (PNPLA3) rs738409 G variant, a robust NAFLD susceptibility variant, has been variably associated with carotid atherosclerosis. We hypothesized that this variant is associated with WMH volume, microbleeds, covert brain infarction (CBI), and small perivascular spaces.
METHODS: We performed a cross-sectional analysis of the Northern Manhattan Study-MRI Substudy. The associations between the rs738409 G variant allele and outcomes were assessed using linear regression for WMH volume, logistic regression for microbleeds and CBI, and Poisson regression for small perivascular spaces. Models were adjusted for age, sex, principal components, diabetes, and body mass index.
RESULTS: We included 1063 Northern Manhattan Study participants who had brain MRI and genotype data available (mean age 70 ± 9 years, 61% women). The G allele frequency was 24%. The prevalence of any microbleeds and CBI were 8% and 18%, respectively. The median WMH volume and small perivascular space count score were 7.7 mL and 6, respectively. GG homozygosity, but not heterozygosity, was associated with WMH volume (β = 0.27; 95% CI, 0.03, 0.51) compared to non-carriers. Having at least one G allele was associated with the presence of microbleeds (Odds ratio, 1.78; 95% CI, 1.02, 3.12); the association was attenuated in other models. No associations were observed for CBI and small perivascular spaces.
CONCLUSION: The PNPLA3 rs738409 G allele was associated with greater WMH volume, and inconsistent associations with microbleeds were seen.
Copyright © 2020 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Association studies in genetics; Cerebrovascular disease/stroke; Epidemiology; Metabolic disease; Nonalcoholic fatty liver disease

Mesh:

Substances:

Year:  2020        PMID: 32592869      PMCID: PMC9004230          DOI: 10.1016/j.jns.2020.116981

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


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Authors:  J Gutierrez; M S V Elkind; C Dong; M Di Tullio; T Rundek; R L Sacco; C B Wright
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8.  Cerebral Microbleeds, Vascular Risk Factors, and Magnetic Resonance Imaging Markers: The Northern Manhattan Study.

Authors:  Michelle R Caunca; Victor Del Brutto; Hannah Gardener; Nirav Shah; Nelly Dequatre-Ponchelle; Ying Kuen Cheung; Mitchell S V Elkind; Truman R Brown; Charlotte Cordonnier; Ralph L Sacco; Clinton B Wright
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