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A novel non‑synonymous mutation in MGST2 was identified in a Chinese pedigree with psoriasis vulgaris, with the affected family members co‑segregating the variant, c.123A>T (p.Lys41Asn), with the disease phenotype (PMID:16498398). This initial report provided genetic evidence from a single family, suggesting that MGST2 might be implicated in psoriasis. The mutation was absent in an additional 551 cases and 384 healthy controls, which implies that its occurrence is rare and may only account for a small subset of patients. In contrast, a large-scale association study analyzing six tagging SNPs in 552 cases, 384 controls, and 95 trios did not replicate the disease association (PMID:16773312). No functional or experimental studies have yet been reported to elucidate the pathogenic mechanism underlying the suggested association. In summary, while initial familial evidence points to a potential role for MGST2, the lack of replication in larger cohorts and absence of supporting laboratory data render the overall clinical validity limited.
Key Take‑home: Current evidence provides only limited support for the role of MGST2 in psoriasis, warranting further investigation before routine diagnostic use.
Gene–Disease AssociationLimitedA novel non‑synonymous mutation was identified in a single Chinese pedigree (PMID:16498398), but larger studies in 552 cases and 384 controls failed to support the association (PMID:16773312). Genetic EvidenceLimitedThe only reported variant, c.123A>T (p.Lys41Asn), was observed in one pedigree and did not show replication in larger cohorts. Functional EvidenceLimitedNo functional studies have been reported to support a pathogenic mechanism for MGST2 in psoriasis. |