Identifikasi Variasi Gen yang Bersifat Missense/Nonsense Pada Dermatomyositis Dengan Memanfaatkan Database Genomik Dan Bioinformatik

Authors

  • Lalu Muhammad Irham Ahmad Dahlan University
  • Anisa Nova Puspitaningrum a:1:{s:5:"en_US";s:23:"Ahmad Dahlan University";}
  • Wirawan Adikusuma
  • Eko Mugiyanto
  • Ageng Brahmadhi
  • Gina Noor Djalilah
  • Rahmat Dani Satria
  • Firdayani
  • Abdi Wira Septama

Keywords:

Dermatomyositis, autoimun, penyakit langka, variasi gen, Dermatomyositis, autoimun, penyakit langka, variasi gen, snp, missense

Abstract

Dermatomyositis merupakan penyakit autoimun yang termasuk jenis idiopatik inflamasi miopati (IIM), penyakit ini dapat mempengaruhi kulit dan otot manusia. Gejala klinis Dermatomyositis pada sebagian besar pasien adalah kelemahan otot tubuh, ruam kulit dan kulit bersisik. Salah satu faktor penyebab Dermatomyositis yang sering dilaporkan adalah faktor genetik. Hingga kini,  penelitian terkait Dermatomyositis masih terbatas pada identifikasi jenis variasi gen yang mempengaruhi, namun tidak melaporkan variasi gen mana yang paling berkontribusi pada Dermatomyositis khususnya yang bersifat missense/nonsense. Sehingga pada penelitian ini kami memanfaatkan database genomik dan analisis bioinformatik  untuk mengidentifikasi variasi gen yang paling berhubungan dengan penyakit Dermatomyositis. Penelitian ini menggunakan beberapa database, termasuk GWAS catalog, PheWAS catalog, HaploReg (v41.), dan GTEx portal. Hasil dari penelitian ini ditemukan bahwa gen ZBP1 berkaitan erat dengan penyakit Dermatomyositis dan menunjukkan ekpresi yang tinggi pada beberapa jaringan seperti paru-paru, lambung, esophagus, kulit, jantung dan otot. Variasi gen berdasarkan frekuensi varian alel (rs59626664, rs60542959, rs2066807, rs1048661, rs745400, rs2305480, rs2305479) terkait Dermatomyositis menunjukkan ekspresi jaringan tertinggi di kulit suprapubic, kulit dibawah lengan, otot rangka, dan esofagus. Penelitian ini menekankan bahwa integrasi database genomik dan analisis bioinformatik menunjukkan variasi gen yang berperan dalam patogenesis Dermatomyositis khususnya yang bersifat missense/nonsense. Kami menyarankan untuk peneliti selanjutnya untuk fokus pada variasi gen tersebut untuk divalidasi di fase klinis khusunya di populasi Indonesia.

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Published

2023-05-03

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Vol. 27 No. 1 (2023): MFF

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