TCP11 – Inflammatory Bowel Disease

In a case‑control study of European populations, TCP11 (HGNC:11658) was evaluated for its association with inflammatory bowel disease (MONDO_0005265). The study assessed 11 UC risk SNPs in a Danish sample (560 UC patients [PMID:21995314]) combined with Baltic and Norwegian cohorts, and found that the TCP11 SNP rs2395609 showed significant heterogeneity (P = 0.01 [PMID:21995314]) between Nordic populations and other European groups. A subsequent trans‑ancestry Bayesian meta‑analysis in 2023, which integrated data from African American, East Asian, and European populations (PMID:36308435), also nominated TCP11 among 20 novel risk loci for inflammatory bowel disease, further supporting its potential but modest contribution.

Despite these replicated genetic signals, the overall genetic evidence for TCP11 remains limited due to the lack of familial segregation data and functional or mechanistic studies. No direct experimental assays have been reported to validate the pathogenic impact of TCP11 variants. Key take‑home: while TCP11 exhibits a promising association with inflammatory bowel disease, its current evidence base is modest; further functional and segregation studies are needed to support its clinical utility in diagnostic decision‑making and potential commercial applications.

References

• BMC medical genetics • 2011 • Assessment of heterogeneity between European Populations: a Baltic and Danish replication case‑control study of SNPs from a recent European ulcerative colitis genome wide association study PMID:21995314
• Human molecular genetics • 2023 • Trans-ancestry, Bayesian meta‑analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort PMID:36308435

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