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  • Morin, AndreanneMcGill 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 (författare)

Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

  • Artikel/kapitelEngelska2019

Förlag, utgivningsår, omfång ...

  • 2018-09-11
  • Springer Science and Business Media LLC,2019
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-373365
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-373365URI
  • https://doi.org/10.1038/s41431-018-0266-4DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Madore, Anne-MarieUniv Quebec Chicoutimi, Dept Sci Fondamentales, Saguenay, PQ, Canada (författare)
  • Kwan, TonyMcGill Univ, Dept Human Genet, Montreal, PQ, Canada;McGill Univ, Montreal, PQ, Canada;Genome Quebec Innovat Ctr, Montreal, PQ, Canada (författare)
  • Ban, MariaUniv Cambridge, Dept Clin Neurosci, Cambridge, England (författare)
  • Partanen, JukkaFinnish Red Cross Blood Serv, Res & Dev, Helsinki, Finland (författare)
  • Rönnblom, LarsUppsala universitet,Reumatologi(Swepub:uu)larsronn (författare)
  • Syvänen, Ann-Christine,1950-Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)anncsyva (författare)
  • Sawcer, StephenUniv Cambridge, Dept Clin Neurosci, Cambridge, England (författare)
  • Stunnenberg, HendrikRadboud Univ Nijmegen, Dept Mol Biol, Fac Sci, Nijmegen, Netherlands (författare)
  • Lathrop, MarkMcGill Univ, Dept Human Genet, Montreal, PQ, Canada;McGill Univ, Montreal, PQ, Canada;Genome Quebec Innovat Ctr, Montreal, PQ, Canada (författare)
  • Pastinen, TomiMcGill Univ, Dept Human Genet, Montreal, PQ, Canada;McGill Univ, Montreal, PQ, Canada;Genome Quebec Innovat Ctr, Montreal, PQ, Canada;Ctr Pediat Genom Med, Kansas City, MO USA (författare)
  • Laprise, CatherineUniv Quebec Chicoutimi, Dept Sci Fondamentales, Saguenay, PQ, Canada;Ctr Integre Univ Sante & Serv Sociaux Saguenay La, Saguenay, PQ, Canada (författare)
  • 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, CanadaUniv Quebec Chicoutimi, Dept Sci Fondamentales, Saguenay, PQ, Canada (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:European Journal of Human Genetics: Springer Science and Business Media LLC27:1, s. 90-1011018-48131476-5438

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