Hubungan Polimorfisme SNP8NRG433E1006 Gen Neuregulin 1 ( NRG1 ) dengan Skizofrenia pada Etnik Jawa

Abstract

Gen neuregulin 1 ( NRG1 ) berfungsi penting pada perkembangan sistem saraf dan merupakan kandidat gen penyebab skizofrenia. Polimorfisme SNP8NRG433E1006 pada NRG1 merupakan salah satu faktor risiko yang sering ditemukan pada skizofrenia. Penelitian ini bertujuan menganalisis hubungan polimorfisme SNP8NRG433E1006 gen NRG1 dengan skizofrenia pada etnik Jawa. Penelitian dilakukan pada bulan Januari 2016 hingga April 2017. Sebanyak 30 pasien skizofrenia dan 30 kontrol etnik Jawa dari Rumah Sakit Jiwa Daerah (RSJD) Dr. Amino Gondohutomo Semarang memenuhi kriteria inklusi. Informed consent didapatkan dari keluarga pasien. Sampel darah EDTA dilakukan ekstraksi DNA, amplifikasi nested polymerase chain reaction (PCR), dan sekuensing. Hubungan polimorfisme SNP8NRG433E1006 gen NRG1 dengan skizofrenia dianalisis menggunakan Fisher’s exact test . Dari hasil sekuensing pada kelompok kontrol tidak ditemukan polimorfisme, sedangkan pada kelompok pasien skizofrenia ditemukan dua pasien memiliki polimorfisme SNP8NRG433E1006 dengan mutasi homozigot c.172G>A (6%). Hasil Fisher’s exact test menunjukkan tidak ada hubungan antara polimorfisme SNP8NRG433E1006 gen NRG1 dan skizofrenia pada etnik jawa (p=0,246; p>0,05). Simpulan, peran polimorfisme SNP8NRG433E1006 gen NRG1 terhadap kejadian skizofrenia pada etnik Jawa tidak terbukti. CORRELATION OF SNP8NRG433E1006 POLYMORPHISM NEUREGULIN 1 ( NRG1 ) GENE WITH SCHIZOPHRENIA IN JAVA ETHNIC Neuregulin 1 ( NRG1 ) gene has some important roles in nervous system development and functioning. This gene leading as one of schizophrenia susceptibility gene. SNP8NRG433E1006 of NRG1 is one risk factors of schizophrenia. The objective of this study was to analyse correlation between SNP8NRG433E1006 of NRG1 and schizophrenia in Java ethnic. The study was conducted in January 2016 until April 2017. Thirty patients with schizophrenia and 30 control in which from Java ethnic at Dr. Amino Gondohutomo Semarang Mental Hospital were recruited. Informed consent was obtained from patient’s family. The blood sample went throught DNA extraction, nested PCR and sequencing. Correlation between SNP8NRG433E1006 of NRG1 and schizophrenia was analysed using Fisher’s exact test. All blood sampling were successfully sequenced. We found two SNP8NRG433E1006 of NRG1 with homozygote mutation c.172G>A in thirty Java ethnic with schizophrenia (6%). There was no significant correlation between SNP8NRG433E1006 of NRG1 and schizophrenia in Java ethnic (p=0.246, p>0.05). In conclusion, the role of SNP8NRG433E1006 of NRG1 polymorphism in schizophrenia is not proven.