PT - JOURNAL ARTICLE AU - Linnea Jarenbäck AU - Sophia Frantz AU - Julie Weidner AU - Jaro Ankerst AU - Ulf Nihlén AU - Leif Bjermer AU - Per Wollmer AU - Ellen Tufvesson TI - Single nucleotide polymorphisms (SNPs) in Sulfatase modifying factor (<em>SUMF)-1</em> are associated with lung function and COPD AID - 10.1183/23120541.00668-2021 DP - 2022 Jan 01 TA - ERJ Open Research PG - 00668-2021 4099 - http://openres.ersjournals.com/content/early/2022/02/24/23120541.00668-2021.short 4100 - http://openres.ersjournals.com/content/early/2022/02/24/23120541.00668-2021.full AB - Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with chronic obstructive pulmonary disease (COPD), suggesting a role in disease pathogenesis. Sulfatase modifying factor (SUMF1) is a key modifier in connective tissue remodeling, and we have previously shown 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 performed spirometry, body plethysmography, diffusing capacity of carbon dioxide (DLCO) 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 one second (FEV1)/forced vital capacity (FVC) ratio and FEV1 and an impaired peripheral resistance and reactance. Moreover, individuals homozygous for the variance allele of rs3864051 exhibited a strong association to COPD, a lower FEV1/FVC, FEV1 and DLCO, 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 (TLC) and alveolar volume (VA), if 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 and thereby contributing to the development of COPD.FootnotesThis manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article.Conflict of interest: Linnea Jarenbäck has nothing to disclose.Conflict of interest: Sophia Frantz has nothing to disclose.Conflict of interest: Julie Weidner has nothing to disclose.Conflict of interest: Jaro Ankerst has nothing to disclose.Conflict of interest: Ulf Nihlén has nothing to disclose.Conflict of interest: Leif Bjermer has nothing to disclose.Conflict of interest: Per Wollmer reports receiving support for the present manuscript from Swedish Heart and Lung Foundation. Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from Chiesi Pharma, outside the submitted work. Device and method for pulmonary function measurement – patent issued, no licence.Conflict of interest: Ellen Tufvesson has nothing to disclose.