RT Journal Article SR Electronic T1 Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD JF ERJ Open Research JO erjor FD European Respiratory Society SP 00668-2021 DO 10.1183/23120541.00668-2021 VO 8 IS 2 A1 Linnea Jarenbäck A1 Sophia Frantz A1 Julie Weidner A1 Jaro Ankerst A1 Ulf Nihlén A1 Leif Bjermer A1 Per Wollmer A1 Ellen Tufvesson YR 2022 UL http://openres.ersjournals.com/content/8/2/00668-2021.abstract AB 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 (DLCO) 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 (FEV1) and FEV1/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 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 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.This study shows that several SNPs in the SUMF1 gene are associated with COPD and impaired lung function. These SNPs appear in two blocks: block 2 is associated with COPD and airway obstruction, and block 1 is associated with impaired lung volumes. https://bit.ly/3IiZXcC