The frequency of DISC1 Leu607Phe gene polymorphism in schizophrenia patients at Dr. Soetomo General Hospital Surabaya

https://doi.org/10.19106/JMedSci005001201802

gwenny Ichsan Prabowo(1*), Margarita Maria Maramis(2), Erikavitri Yulianti(3), Afrina Zulaikah(4), Zain Budi Syulthoni(5), Hendy Muagiri Margono(6), Retno Handajani(7)

(1) Departement of Biochemistry, Medicine Faculty, Universitas Airlangga, Surabaya,
(2) Department of Psychiatry, Dr. Soetomo General Hospital Surabaya
(3) Department of Psychiatry, Dr. Soetomo General Hospital Surabaya
(4) Department of Psychiatry, Dr. Soetomo General Hospital Surabay
(5) Department of Psychiatry, Dr. Soetomo General Hospital Surabaya
(6) Department of Psychiatry, Dr. Soetomo General Hospital Surabaya
(7) Departement of Biochemistry, Medicine Faculty, Universitas Airlangga, Surabaya, Institute of Tropical Disease, Universitas Airlangga,Surabaya, Indonesia
(*) Corresponding Author

Abstract


Schizophrenia is a common health problem in the world, including in Indonesia.
Polymorphism of gene disrupted in schizophrenia 1 (DISC1) Leu607Phe is allegedly related
to the predisposition to schizophrenia. However, studies on the relationship between
polymorphism of DISC1 Leu607Phe and schizophrenia in various etnics provided different
results. The purpose of this study was to determine the frequency of DISC1 Leu607Phegene
polymorphism and its association with treatment response in patients with schizophrenia
at Department of Psychiatry, Dr. Soetomo General Hospital Surabaya. In this study, the
number of male patients with schizophrenia was more than that of the female patients.
The mean age of male patients with schizophenia was lower than that of the female
patients. Schizophrenia patients were primarily came from Javanese ethnic with positive
and negative symptom score (PANSS) lower in male patients than that in the female
patients. In conclusion, no DISC1 gene polymorphism at codon 607 is observed in
schizophrenia patients at Dr. Soetomo General Hospital Surabaya, but the G nucleotide
variation at the number 196.339 in intron regions is found instead.


Keywords


Schizophrenia; DISC1 Leu607Phe gene; polymorphism; PANSS; predisposition

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References

  1. Picchioni MM; Murray RM. Clinical Review: Schizophrenia. BMJ 2007;335:91-5.
  2. Sadock BJ, Sadock VA. Kaplan & Sadock Buku Ajar Psikiatri Klinis (Kaplan & Sadock’s Concise Textbook of Cinical Psychiatry) , ed 2. Penerbit buku Kedokteran EGC. 2013;2, 147-188.
  3. Riset Kesehatan Dasar di Indonesia. Prevalensi Gangguan Jiwa berat berdasar provinsi. 2013.
  4. WHO 2011 http://www.mentalhealth.org.uk/help-information/mental-health-statistics/schizophrenia-statistics// Accessed 22 Feb 2015.
  5. Arif IS. Skizofrenia, Memahami Dinamika Keluarga Pasien. Bandung, PT Rafika Aditama; 2006.
  6. Harrison PJ, Weinberger DR.Schizophrenia Genes, Gene Expression,and Neuropathology ; On the Matter of Their Convergence.Mol Psychiatry 2005;10:40-68.
  7. NCBI (http://www.ncbi.nlm.nih.gov/gtr/genes/1312/). Accessed 12 Jan 2015.
  8. Porteus DJ, Thomson,P, Brandon NJ, Millar JK. Disrupted in Schizophrenia 1 (DISC1): A Key Susceptibility Factor for Major Illness .Ann NY Acad Sci., 2006;1086:126-33.
  9. Sawamura N, Sawa A. Disrupted in Schizophrenia 1 (DISC1): A Key Susceptibility Factor for Major Mental Illness. Ann N Y Acad Sci 2006;1086:126-33.
  10. Xiao Y, Wang ZJ, Wan Y, Wang P, Li X, Ji J, Yang F, Feng G, He L, He G. Limited Association Between Disrupted in Schizophrenia 1(DISC1) Gene and Bipolar Disorder in The Chinese Population. Psychiatr Genet. 2011;21(1):42-6.
  11. Gong X, Lu W, Kendrick KM, Pu W, Wang C, Jin L, Lu G, Liu Z, Feng J. A brain-wide association study of DISC1 genetic variants reveal a relationship with the structure and functional connectivity of the percuneus in schizophrenia. Human Brain Mapping 2014;35 :5414 –30.
  12. Ratta AW, Hishmoto A, Mouri K, Shiroiwa K, Sasada T, Yoshida M, Okazaki S, Supriyanto I, Asano M, Ueno Y, Shirakawa O, Sora I. Haplotype Analysis of the DISC1Ser(704)Cys Variant in Japanese Suicide Completers. Psychiatry Res, 2014;30,215(1):249-51.
  13. Norlelawati AT, Kartini A, Norsidah K, Ramli M, Tariq AR, Rohani WTW. DISC1 SNPs and Susceptibility to Schizophrenia : Evidence from Malaysia. Psychiatric invest. 2015; 12(1):103-11.
  14. Zheng F; Wang L; Jia M; Yue W; Ruan Y; Lu T; Liu J; Li J; Zhang D. Evidence for association between Disrupted-in-schizophrenia 1(DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study. Behavioral and Brain Functions. 2011;7(14):1-8.
  15. Thomson PA; Parla JS; McRae AF; Kramer M; Ramarkhrisnan K; Yao J et al.,. 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects ; analysis for association with psychiatric disorder and cognitive traits. Molecular Psychiatry. 2014;19:668-75.
  16. Soares DC, Carlyle BC, Bradshaw NJ, Porteous DJ. DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness. ACS Chemical Neuroscience 2011;2:609-32.
  17. Karam CS, Ballon JS, Bivens NM, Freyberg Z, Girgis RR, Lizardi-Ortiz JE, Markx S, Lieberman JA, Javitch JA. Signaling pathways in schizophrenia: emerging targets and therapeutic. Pharmacological Sciences 2010;30:381-90.
  18. Sagud M, Seler DM, Peles AM, Cus BV, Zivkovic M, Jakovljevic M, Pivac N,.Catechol-O-Methyl Transferase and Schizophrenia. Psychiatria Danubina 2010;22(2) p.270-74.
  19. Departemen Kesehatan Republik Indonesia, Direktorat Jendral pelayanan Medik. Pedoman Penggolongan dan Diagnosis Gangguan Jiwa di Indonesia, cetakan1. 1993:103-18.
  20. Kay SR, Fiszbein A and Opler LA. The positive & negative syndrome scale (PANSS) for schizophrenia. Schizophr. Bull 1987;13:261-276.
  21. Olsen L, Hansen T, Jacobsen KD, Djurovic A, Melle I, Agartz I, Hall H, Ullum H, Timm S, Wang AG, Jonsson EG, Andreassen, Werge T. The estrogen hypothesis of Schizophrenia implicates glucose metabolism: Association study in three independent samples. BMC Medical Genetics 2008;9:39:1-13.
  22. Millar JK; Annan JCW, Anderson S, Christie S, Martin S, Sempe CAM et al., Disruption of two novel genes by a translocation co-segregating with schizophrenia. Human Molecular Genetics. 2000;9:1415-23.
  23. Brauns S, Gollub RL, Roffman JL, Yendiki A, Ho BC, Wassink TH, Heinz A, Ehrlich S. DISC1 is Associated with cortical thickness and neural efficiency. Neuroimage 2011 ;57(4):1591-1600.
  24. Hodgkinson CA, Goldman D, Jaeger J, Persaud S, Kane JM, Lipsky RH, Malhotra AK. Disrupted in Schizophrenia 1 (DISC1): Associated with Schizophrenia, Schizoaffective Disorder, and Bipolar Disorder. Am. J. Hum. Genet. 2004.75:862-72.
  25. Chiba S, Hashimoto , Hattori S, Yohda M, Lipska B, Weiberger DR, Kunigi H. Effect of antipsychotic drugs on DISC1 dysbindin expression in mouse frontal cortex and hippocampus. Journal of Neural Transmission 2006;113:1337-46.
  26. Hennah W, Thomson P, Peltonen L, Porteous D. Beyond Schizophrenia : The role of DISC1 in major Mental Illness. Shizophrenia bulletin 2006;32(3):409-416.
  27. Glessner JT, Hakonarson H. Common Variants in Polygenic Schizophrenia. Genom Biol. 2009;10(9):236-41



DOI: https://doi.org/10.19106/JMedSci005001201802

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Copyright (c) 2018 gwenny Ichsan Prabowo, Margarita Maria Maramis, Erikavitri Yulianti, Afrina Zulaikah, Zain Budi Syulthoni, Hendy Muagiri Margono, Retno Handajani

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Journal of the Medical Sciences (Berkala Ilmu Kedokteran) by  Universitas Gadjah Mada is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Based on a work at http://jurnal.ugm.ac.id/bik/.