UGT2B28 – Endometriosis

A recent case report describes a three‑generation family of Cretan origin with 7 females diagnosed with surgically confirmed endometriosis (PMID:30628680). In this study, a hemizygous deletion affecting UGT2B28 was identified and found to co‑segregate with the disease phenotype within the family. Although the observation of the deletion in multiple affected family members provides initial genetic evidence, the data derive from a single pedigree which limits the strength of the overall gene‑disease association. The reported genetic evidence includes segregation analysis showing the variant presence in the affected proband and 6 additional relatives (PMID:30628680), and a representative coding variant has been summarized as c.200_214del (p.Gly67ValfsTer10).

In parallel, functional studies investigating various UGT isoforms focused on C‑glucuronidation activity did not reveal a role for UGT2B28 in catalyzing the reaction specific to endometriosis pathogenesis (PMID:16949544). The absence of disease‐specific functional assays for UGT2B28 suggests that while the genetic finding is intriguing, the mechanistic insight into how UGT2B28 contributes to endometriosis remains limited.

Key take‑home: The current evidence supports a limited gene‑disease association for UGT2B28 in endometriosis, which may be useful for diagnostic consideration in familial cases but warrants further independent replication and functional characterization.

References

• Molecular Medicine Reports • 2019 • Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis PMID:30628680
• Archives of Biochemistry and Biophysics • 2006 • Identification of human UDP‑glucuronosyltransferase isoform(s) responsible for the C‑glucuronidation of phenylbutazone PMID:16949544

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