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Evidence from two independent case‑control studies in Chilean populations supports a statistically significant association between PRDM15 variation and chronic obstructive pulmonary disease (COPD) (PMID:32824824) (PMID:32222710). In these studies, 214 individuals meeting the GOLD criteria for COPD were compared to 193 healthy controls, and multiple PRDM15 SNPs were found to modify COPD risk, particularly among individuals with lower proportions of Amerindian ancestry. Although the association was detected via common variant analyses rather than classic Mendelian segregation, the observed robust p‑values (ranging from 10^-7 to 10^-3) across these cohorts provide moderate statistical evidence for PRDM15’s involvement in COPD pathogenesis.
Despite the strong case‑control association, there is currently no direct functional evidence connecting PRDM15 to COPD. No cellular assays, animal models, or mechanistic studies in respiratory tissues have been reported that directly evaluate the impact of altered PRDM15 function on lung pathology or immune regulation in COPD. This gap emphasizes a need for further experimental validation to better understand the underlying biological mechanisms.
Overall, the genetic evidence positions the gene‑disease relationship as Moderate according to ClinGen criteria. The reproducible statistical associations, even in the absence of extensive functional validation, suggest that PRDM15 variation represents a relevant genetic contributor to COPD risk in this admixed population.
Key Take‑home: PRDM15 genetic variation is a promising biomarker for COPD risk stratification, meriting additional functional studies to solidify its clinical utility.
Gene–Disease AssociationModerateTwo independent case‑control studies with 214 COPD cases yielded robust associations with p‑values between 10^-7 and 10^-3 (PMID:32824824) (PMID:32222710), supporting a moderate gene‑disease association. Genetic EvidenceModerateThe statistically significant common variant signals across independent cohorts underscore a substantial genetic contribution from PRDM15 in COPD risk. Functional EvidenceLimitedNo direct functional assays or experimental models evaluating PRDM15 function in COPD have been reported, limiting mechanistic insights. |