Peking University Third Hospital
Neurology
NAME: Xiaolu Liu EDUCATION/TRAINING 2004-2010 B.S (Medicine) Peking University Health Science Center, Beijing, China 2010-2012 MD (Neurology) Peking University Health Science Center, Beijing, China FACULTY POSITIONS 2012-2015 Resident Peking University Third Hospital, Beijing, China 09/2016-01/2017 Visiting scholar Genetics department, Stanford University School of Medicine,Palo Alto, US 2015-present Attending doctor Peking University Third Hospital, Beijing, China HONORS 2019 The molecular epidemiology and pathogenesis in Chinese patients of amyotrophic lateral sclerosis, Natural Science Award for outstanding achievements in scientific research in higher institutions (Science and Technology) 2016 Outstanding young academic backbone,Chinese Society of Neurology

Presenter Of 1 Presentation

COL4A1 VARIANTS IN CHINESE PATIENTS WITH INTRACEREBRAL HEMORRHAGE

Session Type
Free Communication Session
Date
28.10.2021, Thursday
Session Time
15:45 - 17:15
Room
FREE COMMUNICATIONS A
Presenter
Lecture Time
16:15 - 16:25

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.

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