Evidence map›Paper›PMID 30206357›Full record

ArticleEuropean journal of human genetics : EJHG2019

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

Andréanne Morin, Anne-Marie Madore, Tony Kwan, Maria Ban, Jukka Partanen, Lars Rönnblom, Ann-Christine Syvänen, Stephen Sawcer, Hendrik Stunnenberg, Mark Lathrop and 2 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Assessment of burden and segregation profiles of CNVs in patients with epilepsy.Annals of clinical and translational neurology · 2022
    Article
  4. Mitochondrial ribosomal stress in lung diseases.American journal of physiology. Lung cellular and molecular physiology · 2022
    Review
  5. Review
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 8 institutions in 6 countries.

Andréanne MorinDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Anne-Marie MadoreDépartement des Sciences Fondamentales, Université du Québec à Chicoutimi, Saguenay, QC, Canada.
Tony KwanDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Maria BanDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Jukka PartanenResearch & Development, Finnish Red Cross Blood Service, Helsinki, Finland.
Lars RönnblomDepartment of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden.
Ann-Christine SyvänenDepartment of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Stephen SawcerDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Hendrik StunnenbergDepartment of Molecular Biology, Faculty of Science, Radboud University, Nijmegen, The Netherlands.
Mark LathropDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Tomi PastinenDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Catherine LapriseDépartement des Sciences Fondamentales, Université du Québec à Chicoutimi, Saguenay, QC, Canada. Catherine_Laprise@uqac.ca.
Université du Québec à Chicoutimi · CAMcGill University and Génome Québec Innovation Centre · CAUniversity of Cambridge · GBCenter for Genomic Science · ITFinnish Red Cross · FIRadboud University Nijmegen · NLScience for Life Laboratory · SEUppsala University · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Gene FrequencyPolymorphism, Single NucleotideAdolescentAdultAgedAged, 80 and overAsthmaChildChild, PreschoolDNA-Binding ProteinsFemaleHumansMaleMicrotubule-Associated ProteinsMiddle AgedMitochondrial ProteinsCXCR6 protein, humanDNA-Binding ProteinsFYCO1 protein, humanMicrotubule-Associated ProteinsMitochondrial Proteinsmitochondrial ribosomal protein L44, humanNeuropilin-2neuropilin-2, humanReceptors, CXCR6Ribosomal ProteinsSerpin E2SERPINE2 protein, humanTranscription Factors

Identifiers

PMID30206357
PMCPMC6303288
OpenAlexW2891842791

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.