DOI: 10.5061/dryad.d51c5b03c
title: International stroke genetics consortium - intracranial aneurysm groups - cohorts and phenotypic descriptors

description: Approximately 3% of the population harbor an unruptured intracranial
 aneurysm (IA) and the overall risk of an aneurysmal rupture is about 1%
 per year. Rupture of IA causes aneurysmal subarachnoid hemorrhage (aSAH)
 and despite recent improvements in risk stratification, imaging, surgical
 and intensive care treatment, the functional outcome after aSAH remains
 poor. The goal of the present study was
 to investigate patient and IA characteristics associated
 with IA rupture using a large multicenter collection of well-characterized
 cases with IA.  Data were collected in the
 context of the genetic studies on IAand were shared
 among the International Stroke Genetics Consortium Intracranial Aneurysm
 Group (ISGC-IA) (eTable 1). Detailed cohort descriptions
 are given in eTable 2. Briefly, all cases had a saccular IA, ruptured or
 unruptured confirmed by imaging or surgical exploration. Patients with
 conditions known to predispose to IAs, such as autosomal dominant
 polycystic kidney disease, Ehlers-Danlos disease, or Marfan’s syndrome,
 were excluded. For all participating groups, approval was
 received by institutional or regional ethics committee on human
 experimentation. Written informed consent was obtained from all patients
 (or guardians of patients) participating in the respective
 studies.  Initial exploration of the available data allowed
 identification of a minimal data set of seven phenotypic patient
 characteristics (basis of recruitment, sex, positive family history,
 hypertension status, smoking status, age at time of aneurysm rupture, and
 multiplicity status), and three aneurysms characteristics (rupture status,
 IA maximum diameter at rupture, and IA location) harmonized across
 studies (eTable 3).
description: Data were collected in the context of the genetic studies on IAand were shared among the International Stroke Genetics Consortium Intracranial Aneurysm Group (ISGC-IA) (<strong>e</strong><b>Table 1</b>). Detailed cohort descriptions are given in <strong>e</strong><b>Table 2</b>. Briefly, all cases had a saccular IA, ruptured or unruptured confirmed by imaging or surgical exploration. Patients with conditions known to predispose to IAs, such as autosomal dominant polycystic kidney disease, Ehlers-Danlos disease, or Marfan’s syndrome, were excluded. For all participating groups, approval was received by institutional or regional ethics committee on human experimentation. Written informed consent was obtained from all patients (or guardians of patients) participating in the respective studies.  Initial exploration of the available data allowed identification of a minimal data set of seven phenotypic patient characteristics (basis of recruitment, sex, positive family history, hypertension status, smoking status, age at time of aneurysm rupture, and multiplicity status), and three aneurysms characteristics (rupture status, IA maximum diameter at rupture, and IA location) harmonized across studies (<b>eTable 3</b>). Data were collected prior to the definition established in the context of the Common Data Elements project supported by the National Institute of Health (NIH), but each data field was mapped to one element and compliant with the Common Data Elements definitions in an effort of global standardization.
description: eTable 1: International Stroke Genetics Consortium Intracranial
 Aneurysm Groups eTable 2: Characteristics of the different cohorts eTable 3: Categories and definitions of the descriptors used to characterize patients and intracranial aneurysms