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UBA7 and Crohn Disease

In a recent study using colon expression quantitative trait loci (eQTL) mapping in 40 healthy African American individuals (PMID:25766683), UBA7 was identified as one of several target genes associated with inflammatory bowel disease (IBD), including Crohn disease. This study demonstrated significant enrichment of GWAS variants in colon tissue, implicating UBA7 in the disease biology. However, a complementary case series in a South Asian population did not find a robust association for UBA7, thereby introducing some conflicting genetic evidence (PMID:30568945). No specific pathogenic coding variants for UBA7 have been reported in these studies.

Functionally, UBA7 plays a critical role in the ISGylation pathway—a post‐translational modification process involved in innate immune regulation. Experimental studies have shown that components of this pathway, including UBA7, impact cellular responses to interferon and antiviral defense (PMID:18560560; PMID:19073728). Although the genetic evidence for an association between UBA7 and Crohn disease remains limited, the functional data provide moderate support for its biological relevance in immune processes that could underlie disease pathogenesis. Key take‑home sentence: UBA7 represents a candidate gene for Crohn disease whose involvement in immune regulation merits further investigation to enhance diagnostic precision and therapeutic strategy planning.

References

  • BMC Genomics • 2015 • Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci PMID:25766683
  • World journal of clinical cases • 2018 • Genetic associations of inflammatory bowel disease in a South Asian population PMID:30568945
  • PloS one • 2008 • HyperISGylation of Old World monkey ISG15 in human cells PMID:18560560
  • Journal of virology • 2009 • ISG15 Arg151 and the ISG15-conjugating enzyme UbE1L are important for innate immune control of Sindbis virus PMID:19073728

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

UBA7 was implicated based solely on statistical enrichment in colon eQTL data from 40 subjects (PMID:25766683), with limited replication in a South Asian cohort (PMID:30568945) and no supporting segregation data.

Genetic Evidence

Limited

Genetic association relies on population-based eQTL mapping without case-level segregation or coding variant reports, limiting the strength of the evidence.

Functional Evidence

Moderate

Functional assays demonstrate that UBA7 is integral to the ISGylation pathway, a process that modulates interferon responses and innate immunity, which are relevant to IBD pathophysiology (PMID:18560560; PMID:19073728).