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COL4A1 VARIANTS IN CHINESE PATIENTS WITH INTRACEREBRAL HEMORRHAGE
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.
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.
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.
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.