Polimorfisme Gen γ-Aminobutyric Acid Type A Receptor Subunit α-6 (GABRA6) dan Gangguan Kecemasan - Melisa I. Barliana; Carissa P. Purabaya; Sri A. F. Kusuma; Rizky Abdulah (Indonesian Journal of Clinical Pharmacy, 2016)
Gangguan kecemasan sering terjadi karena pengaruh lingkungan dan juga dipengaruhi oleh variasi genetik. Gamma-aminobutyric acid type A receptors Subunit α-6 (GABRA6) adalah reseptor dari Gamma-aminobutyric acid type A (GABA). Single Nucleotide Polymorphism (SNP) gen GABRA6 pada posisi rs3219151 (T1521C) mempengaruhi respon seseorang terhadap stres. Tujuan penelitian ini adalah identifikasi genotipe gen GABRA6 pada populasi di Kota Bandung serta korelasinya dengan kondisi stres. Penelitian dilakukan terhadap 112 responden yang mengisi kuesioner The Kessler Psychological Distress Scale (K10) untuk melihat kondisi stres. Sampel darah diambil untuk identifikasi variasi gen GABRA6 dan dianalisis menggunakan metode Polymerase Chain Reaction-Refractory Fragment Length Polymorphism (PCR-RFLP) dengan enzim restriksi AlwN1. Hasil identifikasi gen GABRA6 menunjukkan bahwa sebesar 84 responden (75%) memiliki genotipe CC, 14 responden (12,5%) memiliki genotipe CT, dan 14 responden (12,5%) lainnya memiliki genotipe TT. Meskipun mayoritas responden memiliki genotipe CC, namun data genotipe tidak memenuhi asas kesetimbangan Hardy-Weinberg serta tidak ada korelasi antara variasi gen GABRA6 dengan kondisi stres yang menggunakan analisis bivariate (Chi-Square).Kata Kunci: GABRA6, Gangguan Kecemasan, Indonesia, PCR-RFLP, SNPγ-Aminobutyric Acid Type A Receptor Subunit α-6 (GABRA6) Gene Polymorphism and Anxiety Disorder Anxiety disorder caused by environmental factor and individual genetic variations. Gamma-aminobutyric acid type A receptors Subunit α-6 (GABRA6) is γ-aminobutyric acid type A (GABA) receptor. Single Nucleotide Polymorphism (SNP) of GABRA6 gene at rs3219151 (T1521C) affected individual response of stress. The aim of present study was to identify GABRA6 genotype variations in Bandung city population and its correlation with stress condition. Samples were collected from 112 respondents who filled The Kessler Psychological Distress Scale (K10) questionnaire for stress condition. Blood samples were collected and identification of GABRA6 gene was analyzed using Polymerase Chain Reaction‑Refractory Fragment Length Polymorphism (PCR-RFLP) by AlwN1 restriction enzyme digestion. The result of present study showed that 84 respondents (75%) have CC genotype, 14 respondents (12.5%) have CT genotype, and other 14 respondents (12.5%) have TT genotype. Most of respondents have CC genotype but the data did not meet the Hardy-Weinberg equilibrium and showed no correlation between GABRA6 gene variations and stress condition using bivariate analysis (Chi-Square).Keywords: Anxiety disorder, GABRA6, Indonesia, PCR-RFLP, SNP