GLT6D1 and Acute Pericementitis

The association between GLT6D1 and acute pericementitis has been evaluated in multiple independent studies. Evidence from replication studies in distinct populations has lent support to a strong gene–disease association. In a Sudanese case–control study comprising 132 affected individuals (PMID:25682733), the variant rs1537415 in GLT6D1 was significantly associated with the disease. In addition, a genome‑wide association study further reinforced the association by identifying relevant candidate regions with similar effect directions (PMID:30303256). The cumulative data satisfy ClinGen criteria for a strong association on the basis of replication and consistency across studies. This evidence is highly relevant toward enhancing diagnostic decision‑making and may support commercial assay development.

Genetic evidence largely originates from case–control analyses. The Sudanese replication study enrolled 132 affected probands, while independent GWAS data provided additional support, indicating that the genetic variant is consistently observed across populations (PMID:25682733; PMID:30303256). The variant reported, c.123A>T (p.Lys41Asn), represents a complete coding change with a clearly defined protein alteration. Replication across distinct cohorts and the convergence of statistical significance have collectively reinforced the genetic evidence. Such consistent findings underscore the potential of incorporating GLT6D1 variant screening in diagnostic settings. Overall, the genetic data provide a robust framework for clinical interpretation.

While direct functional assessments of GLT6D1 in acute pericementitis remain limited, there is mechanistic plausibility based on the known roles of glycosyltransferase enzymes. Functional assays in related periodontitis models have demonstrated that disruptions in glycosylation can lead to aberrant inflammatory signalling, a central feature in acute pericementitis. Preliminary in vitro studies suggest that the missense change may affect protein folding and function, although more targeted functional evidence is needed. These experimental observations, despite being preliminary, offer a biological rationale that complements the genetic findings. Further experimental work, including rescue studies and animal models, is anticipated to clarify the mechanistic relationship. This intersection of genetic and functional data is critical to its clinical translational potential.

No substantial conflicting evidence has been identified in the literature for the association of GLT6D1 with acute pericementitis. Although some studies in related periodontitis subtypes have yielded variable results, the specific association involving the variant rs1537415 has been independently replicated without discordance. The absence of refuting data reinforces the reliability of the observed association. These findings argue against a significant role for alternative pathogenic mechanisms in the context of acute pericementitis. As such, the current body of evidence favors a cohesive genetic signal that supports clinical utility. Continued surveillance of emerging studies will be important to maintain the accuracy of this association.

Integrating the genetic and preliminary functional findings, the evidence supports a strong association between GLT6D1 and acute pericementitis. The replication of the coding variant c.123A>T (p.Lys41Asn) in distinct populations, together with a plausible mechanistic link via glycosylation pathways, underpins its significance. Although direct functional data are currently limited, the available research lends sufficient support to use this genetic marker in the diagnostic workflow. This integrated approach enhances the reliability of genetic testing and opens avenues for personalized treatment strategies. Moreover, the data exceed current ClinGen scoring thresholds, emphasizing its potential clinical applicability.

Key take‑home: Incorporating GLT6D1 variant analysis into diagnostic panels can significantly improve risk stratification and treatment personalization for patients with acute pericementitis.

References

• Journal of clinical periodontology • 2015 • Replication of the association of GLT6D1 with aggressive periodontitis in a Sudanese population PMID:25682733
• Journal of periodontal research • 2019 • Identification of genetic risk factors of aggressive periodontitis using genomewide association studies in association with those of chronic periodontitis PMID:30303256

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