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Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits
McGill Univ, Dept Human Genet, Montreal, PQ, Canada;McGill Univ, Montreal, PQ, Canada;Genome Quebec Innovat Ctr, Montreal, PQ, Canada;Univ Quebec Chicoutimi, Dept Sci Fondamentales, Saguenay, PQ, Canada.
Univ Quebec Chicoutimi, Dept Sci Fondamentales, Saguenay, PQ, Canada.
McGill Univ, Dept Human Genet, Montreal, PQ, Canada;McGill Univ, Montreal, PQ, Canada;Genome Quebec Innovat Ctr, Montreal, PQ, Canada.
Univ Cambridge, Dept Clin Neurosci, Cambridge, England.
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2019 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 1, p. 90-101Article in journal (Refereed) Published
Abstract [en]

The Saguenay-Lac-Saint-Jean (SLSJ) region is located in northeastern Quebec and is known for its unique demographic history and founder effect. As founder populations are enriched with population-specific variants, we characterized the variants distribution in SLSJ and compared it with four European populations (Finnish, Sweden, United Kingdom and France), of which the Finnish population is another founder population. Targeted sequencing of the coding and non-coding immune regulatory regions of the SLSJ asthma familial cohort and the four European populations were performed. Rare and low-frequency coding and non-coding regulatory variants identified in the SLSJ population were then investigated for variant-and gene-level associations with asthma and allergy-related traits (eosinophil percentage, immunoglobulin (Ig) E levels and lung function). Our data showed that (1) rare or deleterious variants were not enriched in the two founder populations as compared with the three non-founder European populations; (2) a larger proportion of founder population-specific variants occurred with higher frequencies; and (3) low-frequency variants appeared to be more deleterious. Furthermore, a rare variant, rs1386931, located in the 3'-UTR of CXCR6 and intron of FYCO1 was found to be associated with eosinophil percentage. Gene-based analyses identified NRP2, MRPL44 and SERPINE2 to be associated with various asthma and allergy-related traits. Our study demonstrated the usefulness of using a founder population to identify new genes associated with asthma and allergy-related traits; thus better understand the genes and pathways implicated in pathophysiology.

Place, publisher, year, edition, pages
2019. Vol. 27, no 1, p. 90-101
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Medical Genetics
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URN: urn:nbn:se:uu:diva-373365DOI: 10.1038/s41431-018-0266-4ISI: 000454111500012PubMedID: 30206357OAI: oai:DiVA.org:uu-373365DiVA, id: diva2:1278991
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Knut and Alice Wallenberg FoundationAvailable from: 2019-01-15 Created: 2019-01-15 Last updated: 2019-01-15Bibliographically approved

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Rönnblom, LarsSyvänen, Ann-Christine

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