Akın TEKCAN, Serbülent YİĞİT, Helin Deniz DEMİR, Sabire KILIÇARSLAN

PSÖDOEKSFOLİASYON SENDROM/GLOKOM HASTALIĞININ CLUSTERİN rs11136000 GEN POLİMORFİZMİYLE İLİŞKİSİNİN ARAŞTIRILMASI

Amaç: Psödoeksfoliasyon (PEX), tanısı klinik olarak konan, lens ön kapsülü ve/veya pupil kenarında gri beyaz fibrogranüler psödoeksfoliasyon materyali adı verilen maddenin ön segment muayenesinde görülmesi ile karekterize bir hastalıktır. Glokom genellikle göz içi basıncının artışı ile seyreden, optik sinir başında çanaklaşma; retina ganglion hücre dejenerasyonu ve görme alanı kaybı oluşturan, kronik optik nöropatidir. Bu çalışmada biz Türk populasyonunda CLU geninde yer alan bu tek nükleotid polimorfizminin (SNP) PEX ile ilişkili olup olmadığını araştırmayı amaçladık. Metod: Vaka grubunda birbirleri ile akrabalık ilişkisi bulunmayan 100 PEXG hastası yer aldı. Kontrol grubunda ise akrabalık ilişkisi bulunmayan 100 sağlıklı gönüllü yer aldı. CLU geninde yer alan SNP'nin (rs11136000) genotiplendirmesi polimeraz zincir reaksiyonu (PZR) ve restriksiyon fragment uzunluk polimorfizmi (RFLP) yöntemi kullanılarak yapıldı. Bulgular: CLU geninde yer alan bir dizi varyantının (rs11136000) farklı populasyonlarda PEX ile ilişkisi saptanmıştır. Hasta grubunda C allel sıklığının fazla olduğu görüldü. Kontrol grubunda ise T allel sıklığı fazla idi. Buna göre, hastalığın görülme olasılığı C alleli olan kişilerde daha fazla iken, T alleli bulunan kişilerde daha azdır. Sonuç: Değerlendirmeler sonucunda, CLU geni rs11136000 T>C polimorfizmi ile PEX hastalığı arasında istatistiksel olarak anlamlı bir ilişki tespit edilmemiştir.

Investigation of Association with Clusterin Rs11136000 Gene Polymorphism of Pseudoexfoliation Syndrome

Objectives: Psoudoexfoliation (PEX), diagnosed as clinically, is a disease characterized by the presence of the gray-white fibrogranuler pseudoexfolation material located on the anterior lens capsule and/or pupillary edge, in the anterior segment examination of the substance. Glaucoma, a chronic optic neuropathy, is usually associated with increased intraocular pressure, optic nerve head cupping; make up the loss of retinal ganglion cells and degeneration of the visual field. Glaucoma is the leading cause of irreversible and preventable blindness. In this study, we aimed to investigate if there is a relationship between this single nucleotide polymorphism (SNP) of CLU gene, and PEX in Turkish population. Material and Methods: The case group included 100 PEX patients who don't have any kind ship with each other. The control group included 100 healthy volunteers who don't have any kind ship with each other. Genotyping of SNP (rs11136000) on CLU gene, was determined by using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method.Results: A relationship between a sequence variant (rs11136000) on CLU gene and PEX was observed in different populations. C allele frequency was observed higher in the patient group. In the control group, T allele frequency was higher. Conclusion: According to this, the possibility of the disease is high in people who has C allele; and the possibility of the disease is low in people who has T allele. We didn't observed a statically significant correlation between rs11136000 T> C polymorphism of CLU gene and PEX disease.

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