.png)
_(1).png){kind=logo}
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.
Keywords
Full Text:
PDFReferences
Maramis WF, Maramis AA. Catatan ilmu kedokteran jiwa. Edisi 2. Surabaya: Airlangga University Press; 2009.
Kaplan HI, Sadock BJ, Grebb JA, Kusuma W, Wiguna SIM. Kaplan dan Sadock sinopsis psikiatri: ilmu pengetahuan perilaku psikiatri klinis. Edisi ke-7. Jakarta: Binarupa Aksara; 2010.
McGrath JA, Avramopoulus D, Lasseter VK, Wolyniec PS, Failin MD, Liang KY. Familiality of novel factorial dimensions of schizophrenia. Arch Gen Psychiatry. 2009;66:591–600.
Ruderfer DM, Kirov G, Chambert K, Moran JL, Owen MJ, O’Donovan MC. A family-based study of common polygenic variation and risk of schizophrenia. Mol Psychiatry. 2011;16(9):887–8.
Thomson PA, Christoforou A, Morris SW, Adie E, Pickard BS, Porteus DJ. Association of neuregulin 1 with schizophrenia in a second cohort from the Scottish population. Mol Psychiatry. 2007;12:94–104.
Sei Y, Patterson RR, Li Z, Tunbridge EM, Egan MF, Kolachana BS, dkk. Neuregulin 1 induced cell migration is impaired in schizophrenia: association with neuregulin 1 and catechol-o-methyltransferase gene polymorphisms. Mol Psychiatry. 2007;12:946–57.
Buxbaum JD, Georgieva L, Young JL, Plescia C, Kajiwara Y, Jiang Y, dkk. Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. Mol Psychiatry. 2008;13:162–72.
Alaerts M, Ceulemans S, Forero D, Moens LN, Heyrman L, Lenaerts A. Support for NRG1 as a suspectibility factor for schizophrenia in a northern Swedish isolated population. Arch Gen Psychiatry. 2009;66(8):828–37.
Effendy E, Loebis B, Amir N, Siregar Y. SNP8NRG4331006 neuregulin-1 genetic variation in Batak ethnic with schizophrenia paranoid and healthy control. Bali Med J. 2014;3(2):58–64.
Mei L, Xiong WC. Neuregulin 1 in neural development, synaptic plasticity and schizophrenia. Nat Rev Neurosci. 2008;9:437–52.
Kementerian Kesehatan Republik Indonesia. Lighting the hope for schizoprenia warnai peringatan Hari Kesehatan Jiwa tahun 2014 [diunduh 21 Mei 2017]. Tersedia dari: http://www.depkes.go.id/article/view/201410270010/lighting-the-hope-for-schizoprenia-warnai-peringatan-hari-kesehatan-jiwa-tahun-2014.html.
Na'im A, Syaputra H, Sumarwanto, Iriantono T. Kewarganegaraan, suku bangsa, agama, dan bahasa sehari-hari penduduk Indonesia. Hasil sensus penduduk 2010. Jakarta: Badan Pusat Statistik; 2011.
Weickert CS, Tiwari Y, Schofield PR, Mowry BJ, Fullerton JM. Schizophrenia-associated HapICE haplotype is associated with increased NRG1 type III expression and high nucleotide diversity. Trans Psychiatry. 2012;2:158.
Anderson P. Teen marijuana use linked to earlier psychosis onset [diunduh 21 Mei 2017]. Tersedia dari: https://www.medscape.com/viewarticle/825131.
Stuart GW. Principles and practice of psychiatric nursing. Edisi ke-10. St Louis, Missouri: Elsevier Mosby; 2013.
Kato T, Abe Y, Sotoyama H, Kakita A, Hirokawa S, Ozaki M, dkk. Transient exposure of neonatal mice to neuregulin-1 results in hyperdopaminergic states in adulthood: implication in neurodevelopmental hypothesis for schizophrenia. Mol Psychiatry. 2011;16:307–20.
Kumar A, Bisht M, Venkatesu P. Exploring the structure and stability of amino acids and glycine peptides in biocompatible ionic liquids. RSC Adv. 2016;6:18763–77.
Wu G. Functional amino acids in growth, reproduction, and health. Adv Nutr. 2010;1:31–7.
Mahone IH, Maphis CF, Snow DE. Effective strategies for nurses empowering clients with schizophrenia: medication use as a tool in recovery. Issues Ment Health Nurs. 2016;37:372–9.
Kurtz MM, Richardson CL. Social cognitive training for schizophrenia: a meta-analytic investigation of controlled research. Schizophr Bull. 2012;38(5):1092–104.
Wulandari A, Purnomowati A, Wahmurti Tuti. Deteksi disfungsi endotel pada gangguan depresi mayor dengan pengukuran endothelial-dependent flow-mediated vasodilatation. GMHC. 2017;(5)1:27–32.
Gong YG, Wu CN, Xing QH, Zhao XZ, Zhu J, He L. A two-method meta-analysis of neuregulin 1 (NRG1) association and heterogeinity in schizophrenia. Schizophr Res. 2009;111:109–14.
Ikeda M, Takahashi N, Saito S, Aleksic B, Watanabe Y, Nunokawa A, dkk. Failure to replicate the association between NRG1 and schizophrenia using Japanese large sample. Schizophr Res. 2008;101(1–3):1–8.
DOI: https://doi.org/10.29313/gmhc.v6i1.2658
pISSN 2301-9123 | eISSN 2460-5441
Visitor since 19 October 2016:
_(1).jpg){kind=logo}
Global Medical and Health Communication is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.