Studi Pendahuluan Polimorfisme Genetik Gen CYP1A2*1F pada Pasien Asma dan Nonasma di Indonesia - Queljoe, Doddy de; Wahjudi, Mariana; Erdiansyah, Muhammad; Suryadinata, Rivan V.; Lorensia, Amelia (Indonesian Journal of Clinical Pharmacy, 2015)
Polimorfisme genetik CYP1A2 berkaitan dengan metabolisme teofilin sehingga dapat memengaruhi kadar obat dalam darah serta berpengaruh terhadap kejadian adverse drug reaction (ADR) dan outcome klinis terapi asma. Frekuensi polimorfisme CYP1A2 diketahui bervariasi antar etnis. Diduga populasi Indonesia memiliki frekuensi varian gen CYP1A2*1F yang tinggi. Penelitian ini bertujuan untuk mengetahui profil polimorfisme gen CYP1A2*1F pada sampel nonasma dan asma di Indonesia dengan populasi lain berdasarkan literatur. Pengambilan data dilakukan pada JanuariâJuni 2014. Sampel darah diperoleh dari 29 orang nonasma dan 16 pasien asma. Setelah dilakukan ekstraksi DNA genomik kemudian ditentukan polimorfisme gen CYP1A2*1F dengan metode PCR-RFLP. Hasil penelitian ini menunjukkan bahwa polimorfisme gen CYP1A2*1F pada sampel nonasma adalah 10,35% (3/29) untuk C/C, 37,93% (11/29) untuk C/A dan 51,72% (15/29) untuk A/A. Pada penderita asma frekuensi distribusi genotip C/A sebesar 81,25% (13/16) dan A/A sebesar 18,75% (3/16). Tidak terdapat perbedaan signifikan (p=0,276) frekuensi alel antara sampel nonasma dan pasien asma. Frekuensi gen CYP1A2*1F pada populasiÂ  Indonesia lebih besar dibandingkan dengan populasi Mesir, Jepang, dan Inggris akan tetapi lebih rendah dibandingkan dengan Malaysia. Oleh karena itu, dapat disimpulkan tidak terdapat perbedaan frekuensi.Kata kunci: Asma, CYP1A2*1F, polimorfisme genetikPilot Study on Genetic Polymorphisms CYP1A2*1F on Asthma Patients and Nonasthma in IndonesiaGenetic polymorphisms of CYP1A2 is related to the theophylline metabolism that may affect drug levels in the blood, which can also affect incidence of adverse drug reaction (ADR) and clinical outcomes of asthma therapy. The frequency of CYP1A2 polymorphism is known to vary among ethnic. Allegedly the Indonesian population has high frequency of gene variants of CYP1A2*1F. This study aims to determine the profile of CYP1A2*1F gene polymorphism in a sample of nonasthma and asthma in Indonesia with other populations based on the literature. Data were taken on JanuaryâJune 2014. Blood samples were obtained from 29 nonasthma samples and 16 patients with asthma. After extraction of genomic DNA, CYP1A2*1F gene polymorphisms determined by PCR-RFLP. The results of this study indicate that the CYP1A2*1F gene polymorphism in nonasthma samples was 10.35% (3/29) for C/C, 37.93% (11/29) for the C/A, and 51.72% (15/29) for A/A. The asthmatics genotype have a frequency distribution of C/A genotype of 81.25% (13/16) and A/A of 18.75% (3/16). There was no significant difference (p=0.276) allele frequencies between samples of nonasthma and asthma patients. The frequency of CYP1A2*1F gene in Indonesian population is higher than the population of Egypt, Japan, and UK, but lower compared to Malaysia. It can be concluded that there is no difference in frequency.Keywords: Asthma, CYP1A2*1F, genetic polymorphisms