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Two independent case‑control studies have evaluated the role of CLEC4E polymorphisms in pulmonary tuberculosis. In a northern Chinese cohort with 202 patients and 214 controls (PMID:31075410), the variants rs10841845 and rs10841847 were associated with a protective effect (odds ratios < 1) against the development of pulmonary tuberculosis. In contrast, a second study from Guinea‑Bissau including 289 cases and 322 controls (PMID:32971250) reported that the minor allele of rs10841847 was significantly associated with an increased risk (OR = 1.55) of disease. These conflicting risk directions underscore the complexity of the genetic contribution to tuberculosis susceptibility and warrant careful interpretation.
Despite the statistically significant associations observed, the overall genetic evidence is tempered by the lack of segregation data, limited case numbers relative to typical Mendelian analyses, and absence of comprehensive functional assessments. No robust functional assays or animal/cellular models have yet delineated a precise mechanism for how CLEC4E variation might influence pulmonary tuberculosis pathogenesis. Additional research is clearly needed to reconcile the opposing effects observed and to assess the clinical utility of CLEC4E genotyping in risk stratification for pulmonary tuberculosis.
Key take‑home sentence: While current genetic evidence suggests CLEC4E variants may modulate the risk of pulmonary tuberculosis, the conflicting associations and sparse functional data limit its immediate diagnostic and therapeutic application.
Gene–Disease AssociationLimitedTwo independent association studies with 202 (PMID:31075410) and 289 (PMID:32971250) cases provide statistically significant but conflicting associations regarding CLEC4E variants and pulmonary tuberculosis. The absence of segregation and functional data further restricts the overall confidence in the association. Genetic EvidenceModerateThe case‑control studies demonstrate significant associations for the SNP rs10841847 in different populations; however, the contrasting risk directions necessitate cautious interpretation of the genetic evidence. Functional EvidenceLimitedThere is a lack of robust experimental and functional studies directly linking CLEC4E variation to the pathogenesis of pulmonary tuberculosis. |