Genetic Insights into COPD and Diabetes: A Mendelian Randomization Approach

Chronic obstructive pulmonary disease (COPD) is a major global health concern and frequently coexists with conditions like diabetes mellitus (DM). Chronic inflammation and oxidative stress are common risk factors shared by both these conditions. Observational studies suggest that people with COPD are more likely to develop diabetes, but these studies cannot confirm whether one condition causes the other.

A recent study published in Medicine used a two-sample Mendelian randomization (MR) approach, which used genetic variants as natural “instruments” to assess causal relationships. Researchers used inverse-variance weighting, MR-Egger regression, and sensitivity analyses to ensure robust results. Mostly, participants were of European and East Asian ancestry.

The researchers conducted an analysis of genome-wide association study (GWAS) data, specifically targeting single-nucleotide polymorphisms (SNPs) related to COPD and diabetes. The SNPs associated with COPD, type 1 diabetes mellitus (T1DM), and type 2 diabetes mellitus (T2DM) were derived from extensive GWAS and utilized as instrumental variables.

Results suggested a small causal link between genetically predicted type 1 diabetes (T1DM) and increased COPD risk in Europeans (odds ratio 1.91; 95% CI 1.0003–3.0016; P = 0.005). No clear causal association was found between COPD and type 2 diabetes (T2DM). Sensitivity analyses showed no bias from pleiotropy or heterogeneity.

In summary, these results suggest a genetic link between T1DM and COPD, but further studies in larger, more diverse populations are needed to confirm these findings and elucidate the underlying mechanisms.

References:

1.      Wu Y, Zhou Y, Pang Y, Zhu L. Mendelian randomization analysis of the causal relationship between COPD and type 1 and type 2 diabetes mellitus. Medicine (Baltimore). 2025;104(48):e45935. doi:10.1097/MD.0000000000045935; https://journals.lww.com/md-journal/fulltext/2025/11280/mendelian_randomization_analysis_of_the_causal.6.aspx?context=latestarticles