Fig. 4

Tissue-specific regulatory impact of eQTL rs1263181 on SLC16A2 expression levels. The figure displays the differential expression impact of eQTL (rs1263181) across various human tissues, based on GTEx database analysis. The eQTL is significantly associated with gene expression in thyroid and skeletal muscle, implicating its potential involvement in Allan-Herndon-Dudley Syndrome pathophysiology. The left panel enumerates tissues with corresponding normalized effect sizes (NES), p-values, and m-values from METASOFT, indicating the probability of eQTL association. The right panel plots the negative logarithm of the p-value against the m-value for each tissue, highlighting the strongest associations in thyroid and skeletal muscle. Data spans 49 tissues, affirming the eQTL’s variable expression influence