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Chronic rhinosinusitis patients show accumulation of genetic variants in PARS2

Viktor Henmyr, Christina Lind-Halldén, Christer Halldén, Torbjörn Säll, Daniel Carlberg, Claus Bachert UGent and Lars-Olaf Cardell (2016) PLOS ONE. 11(6).
abstract
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
ASSOCIATION, SERVER
journal title
PLOS ONE
PLoS One
volume
11
issue
6
article number
e0158202
pages
9 pages
Web of Science id
000378801200050
JCR category
MULTIDISCIPLINARY SCIENCES
JCR impact factor
2.806 (2016)
JCR rank
15/64 (2016)
JCR quartile
1 (2016)
ISSN
1932-6203
DOI
10.1371/journal.pone.0158202
language
English
UGent publication?
yes
classification
A1
copyright statement
I have retained and own the full copyright for this publication
id
8506401
handle
http://hdl.handle.net/1854/LU-8506401
date created
2017-01-31 13:36:23
date last changed
2017-02-10 12:39:54
@article{8506401,
  abstract     = {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.},
  articleno    = {e0158202},
  author       = {Henmyr, Viktor and Lind-Halld{\'e}n, Christina and Halld{\'e}n, Christer and S{\"a}ll, Torbj{\"o}rn and Carlberg, Daniel and Bachert, Claus and Cardell, Lars-Olaf},
  issn         = {1932-6203},
  journal      = {PLOS ONE},
  keyword      = {ASSOCIATION,SERVER},
  language     = {eng},
  number       = {6},
  pages        = {9},
  title        = {Chronic rhinosinusitis patients show accumulation of genetic variants in PARS2},
  url          = {http://dx.doi.org/10.1371/journal.pone.0158202},
  volume       = {11},
  year         = {2016},
}

Chicago
Henmyr, Viktor, Christina Lind-Halldén, Christer Halldén, Torbjörn Säll, Daniel Carlberg, Claus Bachert, and Lars-Olaf Cardell. 2016. “Chronic Rhinosinusitis Patients Show Accumulation of Genetic Variants in PARS2.” Plos One 11 (6).
APA
Henmyr, V., Lind-Halldén, C., Halldén, C., Säll, T., Carlberg, D., Bachert, C., & Cardell, L.-O. (2016). Chronic rhinosinusitis patients show accumulation of genetic variants in PARS2. PLOS ONE, 11(6).
Vancouver
1.
Henmyr V, Lind-Halldén C, Halldén C, Säll T, Carlberg D, Bachert C, et al. Chronic rhinosinusitis patients show accumulation of genetic variants in PARS2. PLOS ONE. 2016;11(6).
MLA
Henmyr, Viktor, Christina Lind-Halldén, Christer Halldén, et al. “Chronic Rhinosinusitis Patients Show Accumulation of Genetic Variants in PARS2.” PLOS ONE 11.6 (2016): n. pag. Print.