NABILA AULIA RAHMA, NIM. 202205046 (2026) STUDI BIOINFORMATIKA VARIASI DAN EKSPRESI GEN YANG BERHUBUNGAN DENGAN TAKAYASU ARTERITIS (TA). Skripsi thesis, UNIVERSITAS MUHAMMADIYAH GOMBONG.

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Abstract

Background: Takayasu Arteritis (TA) is a chronic idiopathic inflammatory disease affecting the large blood vessels. Genetic factors play an important role in the pathogenesis of TA, however bioinformatics research on gene variations and expression in TA remains limited. Purpose: This study aimed to identify TA risk genes based on genomic data and to analyse the relationship between genetic variations and gene expression across human tissues. Method: This study employed a bioinformatics approach using secondary data from the GWAS Catalog, HaploReg v4.2, GTEx Portal, and Ensembl Genome Browser. SNPs were selected based on a p-value threshold of < 5 x 10-8 and further analysed to identify missense variants, gene expression patterns, and allele frequency distributions. Result: A total of 166 SNPs were identified as associated with TA, of which 68 SNPs met the genome-wide significance threshold. Six SNPs were identified as missense variants, namely rs313618 (GPANK1), rs1576 (CCHCR1), rs9267532 (LY6G5B), rs10885 (PRRC2A), rs9267547 (LY6G6F), and rs45479291 (HLA-V), with relevant expression patterns observed in arterial tissue, whole blood, lung, and testis. Conclusion: The six identified candidate genes potentially contribute to the pathophysiology of TA through tissue-specific gene expression patterns. Recommendation: Candidate genes need to be developed as biomarkers for Takayasu Arteritis, however further studies with larger populations are still needed to validate the findings.

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