An association study of D-amino acid oxidase and D-amino acid oxidase activator polymorphisms and schizophrenia in patients from Turkey

Amaç: Şizofreni yüksek derecede kalıtsal, karmaşık bir hastalıktır. Bu kalıtsallığın altında yatan genetik etkileşimler hala anlaşılmaya çalışılmaktadır. Bağlantı çalışmaları şizofreniye yatkınlıkta aday genler olarak D-amino asit oksidaz (DAO) ve D-amino asit oksidaz aktivatör (DAOA-G72) genlerini işaret etmiştir. Etkileşim ortakları DAO ve DAOA genlerinin polimorfizmleri ile şizofreni arasında, farklı etnik kökenler ile çeşitli ilişki çalışmaları yapılmıştır. Ancak bu çalışmalardan çelişkili sonuçlar alınmıştır. Bu çalışmada Türk şizofreni hastalarında bazı DAO ve DAOA polimorfizmlerinin etkilerinin incelenmesi amaçlanmıştır. Yöntem: Bu çalışmada Türkiye'nin doğusunda yer alan Malatya bölgesinden, Türk kökenli bireylerde, DAO geninde iki adet (rs2111902 and rs3741775) ve DAOA geninde bir adet (rs2391191) olacak şekilde, tek nükleotid polimorfizmleri (TNP) genotiplendirilmiştir. Bu çalışma 96 şizofreni hastası ve 100 ruh sağlığı yerinde olan katılımcı ile yapılmıştır. Sonuçlar: Kontrol grubu ve şizofrenili hastalar arasında DAO genine ait rs2111902 and rs3741775 TNP'leri açısından anlamlı farklılık bulunmamıştır; ancak DAOA geninde rs2391191 TNP'sinde alelik düzeyde anlamlı ilişki bulunmuştur. Hasta grubunda ayrıca şiddet davranışı, özkıyım girişimleri ve genotipler arasındaki ilişki de incelenmiştir. Tartışma: Bu çalışmada yer alan Türk şizofreni hasta grubunda bu hastalık patolojisi ile rs2391191'in G aleli için istatistiki olarak anlamlı bir bağlantı bulunurken, incelenen diğer TNPler rs2111902 and rs3741775 arasında anlamlı bir ilişki gösterilememiştir.

Türk şizofreni hastalarında D-amino asit oksidaz ve D-amino asit oksidaz aktivatör polimorfizmleri arasındaki ilişki

Objective: Schizophrenia is a highly heritable complex disease. The genetic interactions underlying this heritability is still needs to be understood. Linkage studies pointed out the D-amino acid oxidase (DAO) and D-amino acid oxidase activator (DAOA-G72) genes as candidate genes in susceptibility to schizophrenia. The association studies of interaction partners D-amino acid oxidase and D-amino acid oxidase activator gene polymorphisms and schizophrenia has been performed in different studies with different ethnic origins. However these studies showed conflicting results. In this study, it is aimed to examine the effects of several DAO and DAOA polymorphisms in Turkish schizophrenia patients. Methods: In the present study two single nucleotide polymorphisms (SNPs) within DAO gene (rs2111902 and rs3741775) and one in DAOA gene (rs2391191) were genotyped in individuals with Turkish origin from Malatya region on eastern part of Turkey. 96 schizophrenia patients and 100 mentally healthy individuals are the subjects of this study. Results: No significant difference was found in between the controls and schizophrenia sample for the SNPs rs2111902 and rs3741775 of DAO gene but a significant association was found on the allelic level of rs2391191 of DAOA gene. The relationship between aggressive behaviour, suicide attempts and genotypes were also evaluated in the patient group. Discussion: A significant association for the G allele of rs2391191 at the allelic level (p=0.036) was found, on the other hand no association could be shown between the examined rs2111902 and rs3741775 polymorphisms and the pathology of the disorder in the group of Turkish schizophrenia patients included in this study.

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