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Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD

Jarenbäck, Linnea LU ; Frantz, Sophia LU ; Weidner, Julie LU ; Ankerst, Jaro LU orcid ; Nihlén, Ulf LU ; Bjermer, Leif LU ; Wollmer, Per LU and Tufvesson, Ellen LU (2022) In ERJ open research 8.
Abstract

Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. Sulfatase modifying factor (SUMF1) is a key modifier in connective tissue remodelling, and we have shown previously that several SNPs in
SUMF1 are associated with COPD. The aim of this study was to investigate the association between
SUMF1 SNPs and advanced lung function characteristics. Never-, former and current smokers with (n=154) or without (n=405) COPD were genotyped for 21 SNPs in
SUMF1 and underwent spirometry, body plethysmography, diffusing capacity of the lung for carbon monoxide (
D
LCO) measurement and impulse oscillometry. Four SNPs (rs793391, rs12634248,... (More)

Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. Sulfatase modifying factor (SUMF1) is a key modifier in connective tissue remodelling, and we have shown previously that several SNPs in
SUMF1 are associated with COPD. The aim of this study was to investigate the association between
SUMF1 SNPs and advanced lung function characteristics. Never-, former and current smokers with (n=154) or without (n=405) COPD were genotyped for 21 SNPs in
SUMF1 and underwent spirometry, body plethysmography, diffusing capacity of the lung for carbon monoxide (
D
LCO) measurement and impulse oscillometry. Four SNPs (rs793391, rs12634248, rs2819590 and rs304092) showed a significantly decreased odds ratio of having COPD when heterozygous for the variance allele, together with a lower forced expiratory volume in 1 s (FEV
1) and FEV
1/forced vital capacity (FVC) ratio and an impaired peripheral resistance and reactance. Moreover, individuals homozygous for the variance allele of rs3864051 exhibited a strong association to COPD, a lower FEV
1/FVC, FEV
1 and
D
LCO, and an impaired peripheral resistance and reactance. Other SNPs (rs4685744, rs2819562, rs2819561 and rs11915920) were instead associated with impaired lung volumes and exhibited a lower FVC, total lung capacity and alveolar volume, in individuals having the variance allele. Several SNPs in the
SUMF1 gene are shown to be associated with COPD and impaired lung function. These genetic variants of
SUMF1 may cause a deficient sulfation balance in the extracellular matrix of the lung tissue, thereby contributing to the development of COPD.

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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
ERJ open research
volume
8
article number
00668-2021
publisher
European Respiratory Society
external identifiers
  • scopus:85130714447
  • pmid:35586453
ISSN
2312-0541
DOI
10.1183/23120541.00668-2021
language
English
LU publication?
yes
additional info
Copyright ©The authors 2022.
id
b871f10d-9ff1-48ca-afe2-9fcd240959ea
date added to LUP
2022-05-28 15:20:46
date last changed
2024-06-29 01:59:14
@article{b871f10d-9ff1-48ca-afe2-9fcd240959ea,
  abstract     = {{<p>Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. Sulfatase modifying factor (SUMF1) is a key modifier in connective tissue remodelling, and we have shown previously that several SNPs in <br>
 SUMF1 are associated with COPD. The aim of this study was to investigate the association between <br>
 SUMF1 SNPs and advanced lung function characteristics. Never-, former and current smokers with (n=154) or without (n=405) COPD were genotyped for 21 SNPs in<br>
 SUMF1 and underwent spirometry, body plethysmography, diffusing capacity of the lung for carbon monoxide (<br>
 D <br>
 LCO) measurement and impulse oscillometry. Four SNPs (rs793391, rs12634248, rs2819590 and rs304092) showed a significantly decreased odds ratio of having COPD when heterozygous for the variance allele, together with a lower forced expiratory volume in 1 s (FEV<br>
 1) and FEV<br>
 1/forced vital capacity (FVC) ratio and an impaired peripheral resistance and reactance. Moreover, individuals homozygous for the variance allele of rs3864051 exhibited a strong association to COPD, a lower FEV<br>
 1/FVC, FEV<br>
 1 and <br>
 D <br>
 LCO, and an impaired peripheral resistance and reactance. Other SNPs (rs4685744, rs2819562, rs2819561 and rs11915920) were instead associated with impaired lung volumes and exhibited a lower FVC, total lung capacity and alveolar volume, in individuals having the variance allele. Several SNPs in the <br>
 SUMF1 gene are shown to be associated with COPD and impaired lung function. These genetic variants of <br>
 SUMF1 may cause a deficient sulfation balance in the extracellular matrix of the lung tissue, thereby contributing to the development of COPD.<br>
 </p>}},
  author       = {{Jarenbäck, Linnea and Frantz, Sophia and Weidner, Julie and Ankerst, Jaro and Nihlén, Ulf and Bjermer, Leif and Wollmer, Per and Tufvesson, Ellen}},
  issn         = {{2312-0541}},
  language     = {{eng}},
  publisher    = {{European Respiratory Society}},
  series       = {{ERJ open research}},
  title        = {{Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD}},
  url          = {{http://dx.doi.org/10.1183/23120541.00668-2021}},
  doi          = {{10.1183/23120541.00668-2021}},
  volume       = {{8}},
  year         = {{2022}},
}