CIBAR2 – Ulcerative Colitis

This summary evaluates the association between CIBAR2 (HGNC:24781) and ulcerative colitis (MONDO_0005101) based solely on the available multi‐patient studies. In one study, a candidate association was observed in a cohort comprising 507 Crohn’s disease and 475 ulcerative colitis patients (PMID:18580884), where CIBAR2 was included in the analysis along with other genes. However, the primary focus of that publication was on other genes, and the contribution of CIBAR2 was only indirectly noted.

Genetic evidence for this association is limited. There is no report of specific pathogenic variants in CIBAR2, and no detailed case reports or segregation data were provided. The multi‐gene panel study did not provide isolated statistics for CIBAR2, and although up to 475 ulcerative colitis patients were included (PMID:18580884), the genetic signal did not reach clear-cut significance independent of the panel. No valid HGVS variant string for CIBAR2 could be extracted from the supplied variant list.

The inheritance mode underlying ulcerative colitis is complex and multifactorial, and accordingly, no simple Mendelian pattern can be applied to CIBAR2. There is no evidence of classic segregation in families, with affected relatives noted at a count of 0 in the available data.

Functional or experimental evidence for the role of CIBAR2 in ulcerative colitis is absent. No mechanistic insights, cellular or animal model studies, or rescue experiments have been provided to support a pathogenic role, leaving the functional evidence score at none.

Moreover, replication studies including the European cohort (PMID:19262523) have not substantiated the initial findings observed in the New Zealand study. The conflicting outcomes underscore the need for further focused research on CIBAR2 before it can be considered in diagnostic decision‑making or commercial applications.

In conclusion, while multi‐patient studies offer some preliminary insights, the association between CIBAR2 and ulcerative colitis remains limited. Additional targeted genetic and functional studies are warranted to establish clinical utility. Key take‑home sentence: The current evidence does not support the use of CIBAR2 as a standalone diagnostic marker for ulcerative colitis.

References

• Genes and immunity • 2008 • Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort PMID:18580884
• The American journal of gastroenterology • 2009 • rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population PMID:19262523

Evidence Based Scoring (AI generated)