CIBAR2 – Crohn Disease

Current evidence from multi‐patient studies does not support a significant association between variants in CIBAR2 (HGNC:24781) and Crohn disease (MONDO_0005011). Two independent case‑control studies, one conducted in Canadian children and young adults (PMID:21472827) and another in a German cohort (PMID:19262523), evaluated a panel of genes including CIBAR2. Although these studies enrolled large numbers of cases (e.g., 566 cases in the Canadian study and 854 Crohn disease patients in the German study) and controls, none of the analyses provided statistically significant evidence implicating CIBAR2 in disease susceptibility. No pathogenic variants, segregation data, or consistent variant spectra (such as a canonical coding change like c.123A>T (p.Lys41Asn)) were observed in association with Crohn disease.

In light of the absence of both robust genetic and functional evidence, the gene‑disease association for CIBAR2 with Crohn disease remains disputed. Further research, including well‐powered genetic analyses and functional validations, is required before any clinical utility can be ascribed to CIBAR2 in diagnostic decision‑making for Crohn disease. Key take‑home: current evidence does not support incorporating CIBAR2 as a determinant in clinical genetic testing panels for Crohn disease, and results should be interpreted within a broader polygenic risk context.

References

• Inflammatory bowel diseases • 2012 • NELL1, NCF4, and FAM92B genes are not major susceptibility genes for Crohn's disease in Canadian children and young adults PMID:21472827
• 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

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