AYDIN RÜSTEMOĞLU, Birgül Elbozan CUMURCU, AYŞE FEYDA NURSAL, MAHMUT BALKAN, Melike UZUN, SERBÜLENT YİĞİT

Türk Populasyonunda Şizofreni Hastalığı İçin Bir Risk Faktörü Olarak Adenozin Deaminaz Geni G22a Polimorfizmi

Amaç: Bu çalışmanın amacı, adenozin deaminaz (ADA) genindeki G22A polimorfizminin Türk popülasyonunda şizofreni ile ilişkisinin araştırılmasıdır.Yöntemler: Bu çalışmada biz 113 şizofreni tanısı almış hasta ve 121 sağlıklı kontrol bireylerini inceledik. ADA geni G22A polimorfizmi allel spesifik-polimeraz zincir reaksiyonu (AS-PCR) yöntemi kullanılarak belirlendi.Bulgular: ADA genindeki G22A polimorfizmi için GG, GA ve AA genotip sıklıkları sırası ile kontrol grubu için %79.3 (96/121), %20,3 (25/121), %0 (0) ve hasta grubu için %87,6 (99/113), %10,6 (12/113), %1,8 (2/113) olarak belirlendi. Genotip dağılım bakımından hasta ve kontrol grupları arasında anlamlı fark bulundu (p=0,017). Ayrıca GA genotipinin sıklığı hastalarda kontrole nazaran anlamlı düzeyde düşük bulundu (p=0,048, OR=0.46, 95%CI 0.220.96). Fakat allel sıklıkları bakımından iki grup arasında anlamlı fark bulunamadı. Cinsiyet bakımından karşılaştırma yaptığımız zaman, erkek hastalarda GG genotipinin anlamlı düzeyde yüksek, GA genotipinin ise düşük olduğu gözlendi (sırası ile p=0,036 ve p=0,005). Kadın hastalarda herhangi bir anlamlı fark gözlenmedi.Sonuç: Bizim sonuçlar ADA genindeki G22A polimorfizminin Türk popülasyonunda şizofreni hastalığı ile ilişkili olabileceğini gösterdi. ADA genindeki GA genotipinin özellikle erkeklerde şizofreniye yatkınlığı düşürdüğü, buna karşın GG genotipinin yatkınlığı arttırdığı muhtemeldir. Farklı hasta ve etnik gruplar ile gelecekte yapılacak çalışmalar, elde ettiğimiz sonuçların kesinleşmesine yardımcı olur.

Adenosine Deaminase Gene G22a Polymorphism as a Risk Factor for Schizophrenia in Turkish Population

Objective: The aim of this study was to investigate whether the G22A polymorphism of adenosine deaminase (ADA) gene is associated with schizophrenia in Turkish population.Methods: In this study, we evaluated 113 patients with schizophrenia and 121 individuals without the disease. The ADA G22A polymorphism was examined using allele specific-polymerase chain reaction (PCR).Results: The ADA G22A genotype frequencies of GG, GA, and AA were 79.3% (96/121), 20.7% (25/121) and 0% (0) in the control group, while 87.6 % (99/113), 10.6% (12/113), 1.8% (2/113) in the patient group, respectively. There was a statistically significant difference in genotype distribution between patients and controls (p=0.017). Also the frequency of GA genotype was found significantly lower in patients compared with healthy controls (OR = 0.46, 95% Cl 0.22-0.96, p =0.048). However, there was not any noticeable difference in allele distribution between the groups (p>0.05). In addition, the frequency of GG genotype in the male patient group significantly higher, and GA genotype significantly lower compared to the male control group, were found (p=0.036, p=0.005, respectively). No association was found for the female group.Conclusion: Our results show that, the G22A polymorphism of ADA gene may be associated with schizophrenia in Turkish population. The ADA GA genotype is likely to reduce, whereas GG genotype increased genetic susceptibility to schizophrenia, especially in males. Further studies should be repeated with different study subjects and/or other ethnic subjects to generalize the conclusion of this study.

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