Dataset Information

Heritability of circle of Willis variations in families with intracranial aneurysms.

ABSTRACT: Intracranial aneurysms more often occur in the same arterial territory within families. Several aneurysm locations are associated with specific circle of Willis variations. We investigated whether the same circle of Willis variations are more likely to occur in first-degree relatives than in unrelated individuals.We assessed four circle of Willis variations (classical, A1-asymmetry, incomplete posterior communicating artery and fetal circulation) in two independent groups of families with familial aneurysms and ?2 first-degree relatives with circle of Willis imaging on MRA/CTA. In each (index) family we determined the proportion of first-degree relatives with the same circle of Willis variation as the proband and compared it to the proportion of first-degree relatives of a randomly selected unrelated (comparison) family who had the same circle of Willis variation as the index family's proband. Concordance in index families and comparison families was compared with a conditional logistic events/trials model. The analysis was simulated 1001 times; we report the median concordances, odds ratios (ORs), and 95% confidence intervals (95%CI). The groups were analysed separately and together by meta-analysis.We found a higher overall concordance in circle of Willis configuration in index families than in comparison families (meta-analysis, 244 families: OR 2.2, 95%CI 1.6-3.0) mostly attributable to a higher concordance in incomplete posterior communicating artery (meta-analysis: OR 2.8, 95%CI 1.8-4.3). No association was found for the other three circle of Willis variations.In two independent groups of families with familial aneurysms, the incomplete PcomA variation occurred more often within than between families suggesting heritability of this circle of Willis variation. Further studies should investigate genetic variants associated with circle of Willis formation.

SUBMITTER: Sanchez van Kammen M

PROVIDER: S-EPMC5788367 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Heritability of circle of Willis variations in families with intracranial aneurysms.

Sánchez van Kammen Mayte M Moomaw Charles J CJ van der Schaaf Irene C IC Brown Robert D RD Woo Daniel D Broderick Joseph P JP Mackey Jason S JS Rinkel Gabriël J E GJE Huston John J Ruigrok Ynte M YM

PloS one 20180129 1

<h4>Background</h4>Intracranial aneurysms more often occur in the same arterial territory within families. Several aneurysm locations are associated with specific circle of Willis variations. We investigated whether the same circle of Willis variations are more likely to occur in first-degree relatives than in unrelated individuals.<h4>Methods</h4>We assessed four circle of Willis variations (classical, A1-asymmetry, incomplete posterior communicating artery and fetal circulation) in two indepen ...[more]

PMID: 29377946

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Project description:Background The anterior (AcomA) and posterior communicating arteries (PcomA) are two of the most frequent sites for intracranial aneurysms. Anatomical variations in the Circle of Willis (COW) are frequently observed in patients with AcomA and PcomA aneurysms. Strong evidence is needed to determine the pooled estimate of the effect of COW variations on the formation and rupture of these aneurysms. Aim This systematic review and meta-analysis aimed to establish the effect of COW variations on the formation and rupture of AcomA and PcomA aneurysms using available studies. Summary of review PubMed, Embase, and Web of Science databases were systematically searched for studies published in English before September 21, 2022. Studies investigating AcomA aneurysms and the hypoplastic/aplastic A1 segment of the anterior cerebral artery and PcomA aneurysms and hypoplastic/aplastic PcomA or fetal-type posterior cerebral artery (FTP) were included. The heterogeneity of the studies was assessed using Cochran Q-test and I2 statistic. Pooled estimate was assessed using either a random- or fixed-effects model based on the heterogeneity of the studies. Among the 4,932 studies, 21 were eligible and included in the analysis. The presence of hypoplastic/aplastic A1 was significantly correlated with the formation [OR (95% confidence interval [CI]) = 7.97 (5.58, 11.39), P < 0.001] and rupture [OR (95%CI) = 1.87 (1.29, 2.72), P < 0.001] of AcomA aneurysms. Significant associations between FTP and both the formation [OR (95%CI) = 2.15 (1.41, 3.30), P < 0.001] and rupture [OR (95%CI) = 1.72 (1.26, 2.36), P < 0.001] of PcomA aneurysms were observed. Conclusions Significant associations were observed between COW variations and both the formation and rupture of AcomA and PcomA aneurysms. This can help in determining interventions for patients with aneurysms. Systematic review registration https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=225149, identifier: CRD42021225149.

Project description:BackgroundThe circle of Willis (CoW) plays a significant role in intracranial atherosclerosis (ICAS). This study investigated the relationship between different types of CoW, atherosclerosis plaque features, and acute ischemic stroke (AIS).MethodsWe investigated 97 participants with AIS or transient ischemic attacks (TIA) underwent pre- and post-contrast 3T vessel wall cardiovascular magnetic resonance within 7 days of the onset of symptoms. The culprit plaque characteristics (including enhancement grade, enhancement ratio, high signal in T1, irregularity of plaque surface, and normalized wall index), and vessel remodeling (including arterial remodeling ratio and positive remodeling) for lesions were evaluated. The anatomic structures of the anterior and the posterior sections of the CoW (A-CoW and P-CoW) were also evaluated. The plaque features were compared among them. The plaque features were also compared between AIS and TIA patients. Finally, univariate and multivariate regression analysis was performed to evaluate the independent risk factors for AIS.ResultPatients with incomplete A-CoW showed a higher plaque enhancement ratio (P = 0.002), enhancement grade (P = 0.01), and normalized wall index (NWI) (P = 0.018) compared with the patients with complete A-CoW. A higher proportion of patients with incomplete symptomatic P-CoW demonstrated more culprit plaques with high T1 signals (HT1S) compared with those with complete P-CoW (P = 0.013). Incomplete A-CoW was associated with a higher enhancement grade of the culprit plaques [odds ratio (OR):3.84; 95% CI: 1.36-10.88, P = 0.011], after adjusting for clinical risk factors such as age, sex, smoking, hypertension, hyperlipemia, and diabetes mellitus. Incomplete symptomatic P-CoW was associated with a higher probability of HT1S (OR:3.88; 95% CI: 1.12-13.47, P = 0.033), after adjusting for clinical risk factors such as age, sex, smoking, hypertension, hyperlipemia, and diabetes mellitus. Furthermore, an irregularity of the plaque surface (OR: 6.24; 95% CI: 2.25-17.37, P < 0.001), and incomplete symptomatic P-CoW (OR: 8.03, 95% CI: 2.43-26.55, P = 0.001) were independently associated with AIS.ConclusionsThis study demonstrated that incomplete A-CoW was associated with enhancement grade of the culprit plaque, and incomplete symptomatic side P-CoW was associated with the presence of HT1S of culprit plaque. Furthermore, an irregularity of plaque surface and incomplete symptomatic side P-CoW were associated with AIS.

Dataset Information

Heritability of circle of Willis variations in families with intracranial aneurysms.

Publications

Heritability of circle of Willis variations in families with intracranial aneurysms.

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