Rare Coding and Regulatory Noncoding Variants in the Saguenay-Lac-Saint-Jean Founder Population

Andreanne Morin, Tony Kwan, Louis Letourneau, Anne-Marie Madore, Maria Ban, Lars Rönnblom, Ann-Christine Syvänen, Stephen Sawcer, Mark Lathrop, Catherine Laprise, Tomi Pastinen

In the past few years, research has started to focus on delineating the whole genetic architecture of complex traits including very rare and singleton variations. Using our ImmunoSeq custom capture panel followed by next-generation sequencing, we are able to study coding and regulatory noncoding variants in the context of complex traits that have an important immune or inflammatory component. Asthma is one of the traits being examined using the Saguenay-Lac-Saint-Jean (SLSJ) asthma familial collection. The SLSJ region is located in northeastern Quebec and is known for its unique demographic history and founder effect, characterized by several population bottlenecks followed by rapid expansion. Since founder populations are enriched in rare and unique variants, we aim to show the advantages of using the SLSJ population in the study of rare coding and noncoding regulatory variants in a complex trait. Rare variant distribution and characteristics of the SLSJ population (n=298) will be compared to three other European populations from Sweden (n= 300), United Kingdom (n=264), and France (n= 96). We will also interrogate differences between coding and noncoding variants in the different populations.