Studi Bioinformatika Varian Genetik yang Memengaruhi Tiroiditis Hashimoto dan Pola Sebarannya di Beberapa Benua
Abstract
Penyakit Hashimoto tiroiditis adalah penyakit autoimun di mana sistem kekebalan tubuh menyerang kelenjar tiroid, menyebabkan peradangan dan kerusakan pada jaringan tiroid. Proses peradangan pada tiroiditis Hashimoto (TH) dipahami sebagai faktor risiko potensial untuk perkembangan kanker tiroid. Sampai saat ini, banyak kemajuan telah dibuat dalam pengetahuan dan pemahaman tentang TH. Namun demikian, mekanisme yang menyebabkan rusaknya toleransi sistem kekebalan tubuh, dengan akibat respon autoimun terhadap kelenjar tiroid dan timbulnya penyakit, masih belum jelas. Pada penelitian ini dengan pendekatan bioinformatika yang kami akses di laboratorium bioinformatika tanggal 5 Juli 2023 menggunakan aplikasi GWAS, Haploreg v4.2, dan GTeX Portal, kami mengidentifikasi varian gen yang berperan dalam TH dan ekspresi gen tersebut dalam jaringan tubuh. Hasilnya diperoleh SNPs rs3184504 yang bersifar missense dengan variasi gen SH2B3. Hasil ekspresi gen SH2B3 dengan menggunakan GTEex Portal di 10 besar jaringan tubuh yaitu pada jaringan limpa, limfoma yang ditransformasikan sel-ebv, paru-paru, fibroblas yang dikultur sel, adiposa-subkutan, adiposa-visceral (omentum), arteri-koroner, tiroid, jaringan payudara-mammae, dan arteri-aorta. Hasil ekspresi SH2B3 di kelenjar tiroid lebih besar pada pria dan wanita. Selain itu dengan menggunakan aplikasi Ensembl kami juga berhasil mengidentifikasi pola sebaran SNPs rs3184504 di beberapa benua yaitu tertinggi (100%) di Asia Timur, selanjutnya di Afrika (98%), Asia Selatan (93%), Amerika (75%) dan terendah di benua Eropa (54%).
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DOI: https://doi.org/10.15416/ijcp.2023.12.3.48535
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