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RING1 and Leukemia

RING1 (HGNC:10018) has been implicated in modulating relapse risk in leukemia (MONDO_0005059) following hematopoietic stem cell transplantation. Two independent multi‐patient studies reported significant associations between SNPs in regulatory regions of RING1 and post‐transplant relapse outcomes: one study analyzed 141 patients (PMID:31551439) and another involved 65 patients (PMID:34753965). These analyses highlighted that donor–recipient genotype mismatches along with specific promoter variants (e.g. the signal noted as rs213210) may influence relapse risk, although no familial segregation data is available.

Genetic evidence for the association remains limited, with a combined cohort of 206 patients showing modest effect sizes. In parallel, functional studies of RING1 have robustly established its role in epigenetic regulation and chromatin remodeling (PMID:16359901); however, direct experimental validation in leukemia model systems is currently lacking. Notably, the variant c.284G>A (p.Arg95Gln) demonstrates the potential functional impact of RING1 alterations, lending indirect support to its role in disease pathogenesis. These findings underscore the need for further investigation to fully delineate the clinical utility of RING1 in diagnostic decision‑making and therapeutic stratification.

References

  • Scientific Reports • 2019 • Association between single nucleotide polymorphisms within HLA region and disease relapse for patients with hematopoietic stem cell transplantation PMID:31551439
  • Scientific Reports • 2021 • Single nucleotide polymorphisms within HLA region are associated with the outcomes of unrelated cord blood transplantation PMID:34753965
  • Molecular Cell • 2005 • Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing PMID:16359901

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Evidence from two independent multi‑patient studies including 141 (PMID:31551439) and 65 (PMID:34753965) leukemia patients supports an association; however, the lack of familial segregation data limits the strength of this association.

Genetic Evidence

Limited

SNP analyses in patient cohorts have identified modest associations between RING1 regulatory variants and relapse risk post‑HSCT, with a total sample size of 206 patients supporting a genetic association that remains preliminary.

Functional Evidence

Limited

While RING1 is well‑characterized for its role in chromatin remodeling and transcriptional regulation (PMID:16359901), direct functional studies of its contribution to leukemia pathogenesis are currently lacking.