Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Chronic rhinosinusitis patients show accumulation of genetic variants in PARS2
Kristianstad University, School of Education and Environment, Avdelningen för Naturvetenskap. Kristianstad University, Forskningsmiljön Biomedicin.
Kristianstad University, School of Education and Environment, Avdelningen för Naturvetenskap. Kristianstad University, Forskningsmiljön Biomedicin.
Kristianstad University, School of Education and Environment, Avdelningen för Naturvetenskap. Kristianstad University, Forskningsmiljön Biomedicin.ORCID iD: 0000-0002-9355-3901
Lund University.
Show others and affiliations
2016 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 11, no 6, e0158202Article in journal (Refereed) Published
Abstract [en]

Genetic studies of chronic rhinosinusitis (CRS) have identified a total of 53 CRS-associated SNPs that were subsequently evaluated for their reproducibility in a recent study. The rs2873551 SNP in linkage disequilibrium with PARS2 showed the strongest association signal. The present study aims to comprehensively screen for rare variants in PARS2 and evaluate for accumulation of such variants in CRS-patients. Sanger sequencing and long-range PCR were used to screen for rare variants in the putative promoter region and coding sequence of 310 CRS-patients and a total of 21 variants were detected. The mutation spectrum was then compared with data from European populations of the 1000Genomes project (EUR) and the Exome Aggregation Consortium (ExAC). The CRS population showed a significant surplus of low-frequency variants compared with ExAC data. Haplotype analysis of the region showed a significant excess of rare haplotypes in the CRS population compared to the EUR population. Two missense mutations were also genotyped in the 310 CRS patients and 372 CRS-negative controls, but no associations with the disease were found. This is the first re-sequencing study in CRS research and also the first study to show an association of rare variants with the disease.

Place, publisher, year, edition, pages
2016. Vol. 11, no 6, e0158202
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:hkr:diva-16091DOI: 10.1371/journal.pone.0158202ISI: 000378801200050PubMedID: 27348859OAI: oai:DiVA.org:hkr-16091DiVA: diva2:975037
Available from: 2016-09-28 Created: 2016-09-28 Last updated: 2017-11-21Bibliographically approved

Open Access in DiVA

fulltext(225 kB)41 downloads
File information
File name FULLTEXT01.pdfFile size 225 kBChecksum SHA-512
5a9249c3a9091f9b2132b41b35a29019963b2a61e81f101669c7a568c6efc6e3afd68ffb0a8ae4fd5986f2e4c4c38e97701f9e81b46d84eae17cf2e31ac51340
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Henmyr, ViktorLind-Halldén, ChristinaHalldén, ChristerCarlberg, Daniel
By organisation
Avdelningen för NaturvetenskapForskningsmiljön Biomedicin
In the same journal
PLoS ONE
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
Total: 41 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 57 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf