Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD
(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
(Less)
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.
- author
- Jarenbäck, Linnea LU ; Frantz, Sophia LU ; Weidner, Julie LU ; Ankerst, Jaro LU ; Nihlén, Ulf LU ; Bjermer, Leif LU ; Wollmer, Per LU and Tufvesson, Ellen LU
- organization
- publishing date
- 2022-04
- 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
- 2024-09-07 08:53:45
@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}}, }