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RNF150 has been investigated as a potential risk gene for chronic obstructive pulmonary disease (COPD). The initial study evaluated 200 COPD patients and 401 controls from a Chinese population and reported that the single nucleotide polymorphism rs10007052 in RNF150 was significantly associated with increased COPD risk (PMID:25609945). This case‑control analysis provided statistically significant results, although the evidence is limited by the absence of familial segregation data and additional independent replication.
A second multi‑gene panel study in the Chinese Li minority population also examined RNF150 among several candidate genes. However, while associations were observed for other genes such as FAM13A, SETD7, and VEGFA, RNF150 did not emerge as a standout contributor in that cohort (PMID:26251585). This mixed replication underscores the need for cautious interpretation of the RNF150 data.
The genetic evidence is based on association statistics without reported segregation in families or the identification of clearly pathogenic sequence variants in a rigorous HGVS format. No recurrent or founder variants specific to RNF150 have been described, and the variant list did not yield a valid HGVS string for clinical reporting. Therefore, evidence from the genetic studies is presently limited.
Functional or experimental studies directly addressing the pathogenic mechanism of RNF150 in COPD are lacking. There are no available data from animal models, cellular assays, or rescue experiments that validate the biological impact of the associated variant. This absence of functional corroboration further restricts confidence in a causal role for RNF150 in COPD pathogenesis.
In summary, while one case‑control study demonstrated a statistically significant association between an RNF150 variant and COPD risk, the overall genetic evidence is limited by the lack of segregation data, replication, and supportive functional studies. This limitation calls for further research to solidify RNF150’s role in COPD.
Key Take‑home: Although preliminary association data suggest a potential role for RNF150 in COPD risk stratification, additional rigorous genetic and functional studies are required before the gene can be reliably used in diagnostic or commercial applications.
Gene–Disease AssociationLimitedThe association is based on a single case‑control study of 200 COPD patients (PMID:25609945), without segregation data or consistent replication across studies. Genetic EvidenceLimitedGenetic evidence is derived from association analyses with a significant finding for rs10007052 in RNF150, but there is an absence of additional variant or familial segregation data. Functional EvidenceLimitedNo direct functional or experimental studies have been reported for RNF150 in COPD, leaving the biological mechanism uncharacterized. |