Identification of pathogenic gene variants in carpal tunnel syndrome using bioinformatics approaches

Abstract

Carpal Tunnel Syndrome (CTS) is one of the disorders that occur in the upper extremities caused by a narrowing in the carpal tunnel so that there is pressure on the median nerve located in the wrist. In this study, pathogenic variants associated with Carpal Tunnel Syndrome (CTS) were prioritized using bioinformatics and genetic data in populations. The study used GWAS data to identify single nucleotide polymorphisms to look for genomic variants associated with CTS. The data obtained is then continued using HaploReg and GTEx portal for analysis with ensembles. Furthermore, the results of the GTEx portal identified genetic variants with gene expression throughout human tissue. The results obtained obtained two gene variants, namely rs61749613 encoded by VCAN and rs62621197 encoded by ADAMTS10. Of the two variants, the gene as a whole can be expressed in the aortic tissue. The allele frequency distribution of the two gene variants obtained different results from each continent.