DOI: https://doi.org/10.14710/genres.v3i2.19085

Implikasi Klinis Variasi Jumlah Copy Gen CYP2D6

*Anggi Gayatri orcid  -  Faculty of Medicine, Universitas Indonesia, Indonesia
Purwantyastuti Ascobat orcid  -  Faculty of Medicine, Universitas Indonesia, Indonesia
Rianto Setiabudy orcid  -  Faculty of Medicine, Universitas Indonesia, Indonesia
Received: 28 Jun 2023; Revised: 26 Sep 2023; Accepted: 26 Sep 2023; Available online: 16 Oct 2023; Published: 16 Oct 2023.
Open Access Copyright 2023 Generics: Journal of Research in Pharmacy

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Abstract
Enzim CYP2D6 adalah salah satu varian sitokrom P450 (CYP450) yang berperan dalam metabolisme obat di hati. Isoform ini berperan dalam memetabolisme 25% obat yang saat ini beredar di pasaran. Aktivitas CYP450 dapat dipengaruhi oleh berbagai faktor seperti usia, jenis kelamin, fungsi organ pemetabolisme, jenis dan derajat penyakit, serta variasi genetik. Salah satu faktor penentu aktivitas CYP2D6 adalah sifat gene CYP2D6 yang sangat polimorfik. Faktor penentu polimorfisme gen CYP2D6 adalah mutasi pada nukleotida tunggal (single nucleotide polymorphisms (SNPs)) dan variasi jumlah copy (copy number variation (CNV)) gen CYP2D6. Kejadian mutasi gen dan variasi jumlah copy gen CYP2D6 dapat meningkatkan atau menurunkan aktivitas enzim CYP2D6 yang selanjutnya dapat menurunkan atau meningkatkan efikasi obat yang merupakan substrat CYP2D6 ataupun dapat menimbulkan toksisitas obat. Berbagai penelitian telah dilakukan untuk mengevaluasi hubungan mutase SNPs gen CYP2D6 dengan efek obat. Dalam tinjauan kali ini akan dibahas mengenai pengaruh variasi jumlah copy (copy number variation) gen CYP2D6 terhadap efek terapi ataupun efek samping obat.
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Keywords: CYP450; copy number variation; single nucleotide polymorphisms; mutasi gen

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