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

¹ Faculty of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta 55164, Indonesia
² Departement of Pharmacy, University of Muhammadiyah Mataram, Mataram 83127, Indonesia
³ Department of Clinical Pharmacy, College of Pharmacy, Taipei Medical University, Taipei 110, Taiwan
⁴ School of Nursing, College of Nursing, Taipei Medical University, Taipei 11031, Taiwan
⁵ Faculty of Medicine, Universitas Ahmad Dahlan, Yogyakarta 55191, Indonesia 7 PKU Muhammadiyah Bantul Hospital, Bantul, Yogyakarta 55711, Indonesia
⁶ Department of Histology, Faculty of Medicine, Universitas Sebelas Maret, Surakarta 57126, Indonesia
⁷ Research Center for Computing, Research Organization for Electronics and Informatics, National Research and Innovation Agency (BRIN), Cibinong Science Center, Cibinong 16911, Indonesia 10 Mataram
⁸ Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta 55281, Indonesia
⁹ Clinical Laboratory Installation, Dr. Sardjito Central General Hospital, Yogyakarta 55281, Indonesia
¹⁰ Faculty of Nursing and Health Sciences, Universitas Muhammadiyah Semarang, Semarang City, Central Java, Indonesia
¹¹ Department of Chemistry and Biochemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA

^* Corresponding author: lalu.irham@pharm.uad.ac.id

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.