ANALISIS VARIAN GENETIK DAN EKSPRESI GEN SPESIFIK JARINGAN PADA HIPERTIROIDISME: STUDI BIOINFORMATIKA INTEGRATIF
DOI:
https://doi.org/10.36465/jkbth.v25i2.1940Keywords:
bioinformatika, ekspresi gen, hipertiroidisme, SNP, genomikAbstract
Hipertiroidisme merupakan gangguan endokrin yang dipengaruhi oleh faktor genetik, imunologis, dan regulasi ekspresi gen. Penelitian ini bertujuan untuk menganalisis variasi genetik serta pola ekspresi gen spesifik jaringan pada hipertiroidisme menggunakan pendekatan bioinformatika integratif. Penelitian dilakukan secara in-silico menggunakan basis data GWAS Catalog, GTEx Portal, Ensembl Genome Browser, SNPnexus, dan HaploReg v4.2. Identifikasi SNP dilakukan menggunakan kata kunci “Hyperthyroidism” dengan nilai signifikansi genom luas (p < 1×10⁻⁸) dan difokuskan pada varian missense. Analisis dilanjutkan dengan evaluasi ekspresi gen, anotasi genom, prediksi dampak fungsional protein, serta distribusi alel populasi. Hasil penelitian menunjukkan terdapat 506 SNP terkait hipertiroidisme dan 17 missense variant yang berpotensi memengaruhi fungsi protein. Gen yang paling banyak berkaitan dengan regulasi imun dan autoimun tiroid meliputi PTPN22, HLA-DPB1, TAP2, FCRL3, ADCY7, dan TG. Analisis fungsional menunjukkan SNP rs78534766 pada gen ADCY7 termasuk kategori probably damaging. Selain itu, ditemukan perbedaan distribusi alel antar populasi yang menunjukkan adanya variasi kerentanan genetik terhadap hipertiroidisme. Pendekatan bioinformatika integratif mampu memberikan gambaran molekuler yang lebih komprehensif dan berpotensi mendukung pengembangan precision medicine berbasis genomik pada hipertiroidisme.
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