ABSTRACT
OBJECTIVE: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM). Yet, the association between the severity of clinical findings with variants within the EFTUD2 gene has not been established. Thus, we aim to elucidate a possible genotype-phenotype correlation in MFDM. METHODS: Forty articles comprising 156 patients were evaluated. The genotype-phenotype correlation was analyzed using a chi-square or Fisher's exact test. RESULTS: The proportion of patients with MFDM was higher in Caucasian relative to Asian populations. Although, in general, there was no apparent genotype-phenotype correlation in patients with MFDM, Asians tended to have more severe clinical manifestations than Caucasians. In addition, cardiac abnormality presented in patients with intronic variants located in canonical splice sites was a predisposing factor in affecting MFDM severity. CONCLUSION: Altogether, this article provides the pathogenic variants observed in EFTUD2 and possible genotype-phenotype relationships in this disease.
ABSTRACT
OBJECTIVE: To assess the performance of serum cytokine IL-6 and IL-6/IL-10 ratio as biomarkers for the diagnosis of primary open-angle glaucoma (POAG) and for determining its progression. METHODS: In this study, 20 POAG patients and 21 healthy individuals from the Indonesian population were enrolled. The serum concentration of IL-6 and IL-10 were quantified. Comparative analysis was performed in addition to assessment of the diagnostic performance of cytokines using receiver-operating-curve (ROC) analysis. RESULTS: POAG patients had a higher IL-6 (p < 0.0001) and IL-6/IL-10 ratio (p < 0.0001) than controls. Among the POAG subjects, advanced-stage patients exhibited a higher IL-6/IL-10 ratio than those in the early-moderate stage (p = 0.001; p = 0.006). The ROC curve analysis showed that both IL-6 level and IL-6/IL-10 ratio exhibited an excellent capability of diagnosing POAG (cut-off of 20.5 pg/mL (100% sensitivity and 94% specificity) and 4.4 (88% sensitivity and 94% specificity), respectively). Serum IL-6/IL-10 ratio displayed a better performance than IL-6 in discriminating POAG severity with cut-off of at least 6.6 (sensitivity of 86% and specificity of 90%) and 9.1 (sensitivity of 89% and specificity of 78%) classified according to C/D ratio and MD of VF, respectively. CONCLUSION: The balance between IL-6 and IL-10 serum levels is potentially useful in discriminating POAG severity.
