Investigating the genomic contributions to familial intracranial aneurysms in a First Nation from Northern British Columbia ...

• Main Author: Newman-Simmons, Avery
• Format: Text
• Language: English
• Published: University of British Columbia 2021
• Subjects: greenlandic; inuit
• Online Access: https://dx.doi.org/10.14288/1.0401959; https://doi.library.ubc.ca/10.14288/1.0401959

INTRODUCTION: Familial intracranial aneurysms (FIA) may present with Mendelian inheritance and an increased risk for first-degree relatives to develop intracranial aneurysms, at a younger age, and with a higher risk of them rupturing in comparison to their sporadic counterparts. However, since genetic research on this non-syndromic condition began in the early 2000’s only a few disease-gene associations have been discovered and much of the aetiology is still missing. Most of these genetic studies have focused primarily on European and East Asian populations although IA has been well documented in Canadian and Greenlandic Inuit. To our knowledge, we are presenting the first extensive whole genome sequencing study on FIA in several First Nation families from a community in Northwestern British Columbia, Canada. METHODS: Whole genome sequencing was completed for 6 affected individuals, selected for having as distant a relationship as possible. To identify single nucleotide variations, small indels, ...