LU TANG (China)
Peking University Third Hospital NeurologyAuthor Of 2 Presentations
COL4A1 VARIANTS IN CHINESE PATIENTS WITH INTRACEREBRAL HEMORRHAGE
Abstract
Background and Aims
In genome-wide association study, COL4A1 was reported to be associated with the risk or recurrence of intracerebral hemorrhage (ICH). The purpose of this study is to screen the COL4A1 variants in Chinese ICH patients and to summarize the relationship between the variants and clinical characteristics.
Methods
It was a prospective multicenter cohort study that included patients with ICH from 21 hospitals in China from 2015 to 2019. Hemorrhage due to brain trauma, arteriovenous malformations, hemorrhagic tumor and hemorrhagic transformation were excluded. Targeted sequencing of a 65-gene panel including COL4A1 was performed to detect all the exons and ±10 bp splicing sites.
Results
Totally, 568 patients were included in this study. For rare variants with minimum allele frequency (MAF) <1%, 6 missense variants and 6 suspicious splice site variants, absent in 573 healthy controls, were found in 18 patients. Compared with ChinaMAP public database, A allele in rs199822852 was significantly associated with the risk of ICH (p<0.001, OR 6.727 (95%CI 3.00-15.0)). For the nine SNP loci with MAF>5%, no statistical difference was found in the genotype distribution compared with controls. There was no significant difference in age of onset, hematoma volume and location, ratio of recurrent ICH and death at 1-year follow-up between patients with or without rare variants.
Conclusions
Rare variants in COL4A1 accounted for 3.17% (18/568) in Chinese ICH patients. This study indicated A allele in rs199822852 might increase the risk of ICH, while COL4A1 rare variants might not be related to the clinical phenotype.
CT-VISIBLE CONVEXITY SUBARACHNOID HEMORRHAGE PREDICTS EARLY RECURRENCE OF LOBAR HEMORRHAGE
Abstract
Background and Aims
Cerebral amyloid angiopathy (CAA) is a major cause of intracerebral hemorrhage (ICH) in elderly, with high recurrent risk. Convexity subarachnoid hemorrhage (cSAH) on MRI may predict ICH recurrence, and CT-visible cSAH may indicate increased recurrence risk in CAA-related ICH survivors after discharge. We aimed to investigate the association of CT-visible cSAH and early recurrence in patients with CAA-related ICH.
Methods
Patients diagnosed as possible or probable CAA according to Boston criteria from 2 prospective cohorts from 21 hospitals in China during Jan. 2015 to Feb. 2020 were included. The demographic, clinical and imaging data, ICH recurrence at discharge and 90-day follow-up were collected. Presence of cSAH was assessed on CT. The association of cSAH and early recurrence was explored using multivariable analysis.
Results
A total 197 cases (73.3±8.9 years) were included. cSAH was observed on CT in 91 patients (46.2%). 5.1% (10/197) and 9.5% (17/179) patients had ICH recurrence within 2 weeks and 90 days respectively. The presence of cSAH was related to 2-week recurrence (p= 0.041), after adjusted for hypertension, anticoagulant use and history of previous ICH. The presence of cSAH was related to 90-day recurrence (P= 0.013), after adjusted for hypertension, history of previous ICH and intraventricular hemorrhage. Prespecified multivariable analysis also showed cSAH was related to 2-week recurrence (p= 0.029) and 90-day recurrence (p=0.007), after adjusted for age, antiplatelet use, warfarin use and history of previous ICH.
Conclusions
CT-visible cSAH was detected in 46.3% of patients with CAA related ICH and indicates an increased risk of recurrent ICH.