# SUMF1 Common Variant rs793391 Is Associated with Response to Inhaled Corticosteroids in Patients with COPD

## TL;DR

A genetic variant in SUMF1 is linked to better lung function improvement in COPD patients using inhaled corticosteroids.

## Contribution

Identifies a SUMF1 SNP (rs793391) associated with ICS response and COPD progression, suggesting potential for personalized treatment.

## Key findings

- rs793391 heterozygotes showed significant FEV1 improvement with ICS treatment.
- Improved patient-reported outcomes were observed in rs793391 heterozygotes.
- The variant may influence COPD progression and treatment response.

## Abstract

This study investigated whether specific sulfatase modifying factor-1 (SUMF1) SNPs—previously linked to lung function—are associated with COPD progression and response to inhaled corticosteroid (ICS) treatment, specifically budesonide, given that SUMF1 expression is altered in COPD and its variants linked to increased disease risk. A subgroup of 165 COPD patients from the HISTORIC study were genotyped for two common SUMF1 SNPs, rs11915920 and rs793391. Patients first underwent a six-week run-in phase with open-label triple inhaled therapy (LAMA/LABA/ICS), then were randomized to receive either LAMA/LABA/placebo or LAMA/LABA/ICS for 12 months. Associations between SNPs, baseline characteristics, and response to ICS—based on FEV1 change over 12 months—were evaluated. Heterozygotes (TG) for the rs793391 polymorphism treated with LAMA/LABA/ICS showed a significant and clinically meaningful FEV1 improvement compared to the placebo group. This was supported by improved patient-reported outcomes, with lower SGRQ and CAT scores and a clinically relevant increase in General Health Questionnaire scores. These findings suggest that rs793391 may be linked to both COPD progression and ICS response and could contribute to more personalized treatment strategies in COPD.