Exploring the Potential Association Between Frozen Shoulder and Gastroesophageal Reflux Disease Using Mendelian Randomisation
Year: 2024
Type: preprint
Study design: Observational Study
Abstract: Background: Frozen shoulder (FS) has been suggested as a potential risk factor for gastroesophageal reflux disease (GERD). However, observational studies are limited in their ability to establish a causal relationship between FS and GERD. Methods: This study aimed to investigate the genetic causal association between FS and GERD using a two-sample Mendelian randomization (MR) approach. Genome-wide association study (GWAS) summary data for FS were obtained from the UK Biobank, while GWAS summary data for GERD were sourced from the FinnGen Consortium. Multiple MR methods, including inverse-variance weighted (IVW), MR Egger, weighted median, simple mode, and weighted mode, were applied to estimate the causal effect. To assess heterogeneity, Cochrane's Q test was performed. Horizontal pleiotropy was evaluated using the MR-Egger intercept test and MR pleiotropy residual sum and outliers (MR-PRESSO) test. Sensitivity analyses, including leave-one-out analysis, were conducted to ensure the robustness of the findings. Results: The IVW method indicated a potential causal relationship between FS and GERD (P = 0.018). There was no evidence of horizontal pleiotropy (P > 0.05), and heterogeneity among genetic variants was not significant (P > 0.05). Furthermore, leave-one-out analysis demonstrated that the association was consistent and reliable. Limitations: All participants included in the GWAS data were of European ancestry, which may limit the generalizability of the results. Additionally, due to data constraints, stratified analyses based on different populations, ethnicities, or age groups were not performed. Conclusion: This two-sample MR analysis provides evidence of a genetic causal association between FS and GERD, highlighting the need for further research to explore this relationship in diverse populations.
Source: Research Square
Authors: Bin Luo, Zongyuan Huang, Shuai Zhang, Yanting Chen, Mingde Cao, RuiZe Chen, Ling Kong, Xin Wu, Qianshi Guo, Yuxiang Ouyang, Hua Wang, Yancheng Song
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4404485482