Genetic investigation of a haplotype on the APH1B gene in schizophrenia patients and their families
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2023
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İnönü Üniversitesi
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info:eu-repo/semantics/openAccess
Özet
Şizofreni kompleks ve çok faktörlü olan ciddi bir psikotik bozukluktur. APH1B geni şizofreniyle ilişkilendirilme potansiyeline sahip genlerden biridir. Daha önce, APH1 genindeki iki tek nükleotid polimorfizminin (SNP) rs117618017 ve rs1047552'nin, yalnızca bir vaka çalışmasında hastalığın gelişimi üzerinde etkileri olduğu öne sürülmüştü. Bu çalışmada, Malatya-Türkiye'den bir grup aile üçlüsünde bu iki SNP'nin ilişkisini test ettik. Çalışmamızı aile temelli ilişkilendirme testi (FBAT) formatında tasarladık.. Yerel bir Türk popülasyonundan toplanan 25 şizofreni hastası ve etkilenmemiş ebeveynlerinden oluşan bir örneklemde 2 SNP'nin genotiplerini taradık. Bu varyantların hastalık ilişkilerini tek SNP, haplotip ve diplotip seviyelerinde test ettik. Çalışmamızın sonuçları, testlerimizde APH1B SNP rs117618017 ve rs1047552 ile şizofreni fenotipi arasında hiçbir genetik ilişki bulunmadığını gösterdi. Bu çalışmada kullandığımız örneklem nispeten küçük bir coğrafi bölgeden toplandığından ve aile üçlüsünün sayısı sınırlı olduğundan, taradığımız iki SNP ilişkisinin daha büyük hasta gruplarında test edilmesini gerektirmektedir. Anahtar kelimeler: APH1B, Genetik İlişki, Şizofreni, Genetik, SNP, Haplotip, Diplotip, FBAT.
Schizophrenia is a severe psychotic complex-multifactorial disease. APH1B gene is one of the gene with a potential of association to schizophrenia. Previously, two single nucleotide polymorphisms (SNPs) rs117618017 and rs1047552 in the APH1 gene were suggested to have effects on the development of disease in a case only study. In this study, we tested the association of these two SNPs in a group of family trios from Malatya-Türkiye. We designed our study in family based association test (FBAT) format. We screened the genotypes of 2 SNPs in a sample consisted of 25 schizophrenia patients and their unaffected parents collected from a local Turkish population. We tested the disease associations of these variants at single SNP, haplotype and diplotype levels. The results of our study indicated there were no genetic associations were found in our tests between the APH1B SNPs rs117618017 and rs1047552 and the schizophrenia phenotype. Since the sample we have used in this study was collected from a relatively small geographic area, and the numbers of family trios were limited, the associations of two SNPs we have screened require to be tested in larger patient groups. Key Words: APH1B, Association, Genetic Association, Schizophrenia, Genetics, SNP, Haplotype, Diplotype, FBAT.
Schizophrenia is a severe psychotic complex-multifactorial disease. APH1B gene is one of the gene with a potential of association to schizophrenia. Previously, two single nucleotide polymorphisms (SNPs) rs117618017 and rs1047552 in the APH1 gene were suggested to have effects on the development of disease in a case only study. In this study, we tested the association of these two SNPs in a group of family trios from Malatya-Türkiye. We designed our study in family based association test (FBAT) format. We screened the genotypes of 2 SNPs in a sample consisted of 25 schizophrenia patients and their unaffected parents collected from a local Turkish population. We tested the disease associations of these variants at single SNP, haplotype and diplotype levels. The results of our study indicated there were no genetic associations were found in our tests between the APH1B SNPs rs117618017 and rs1047552 and the schizophrenia phenotype. Since the sample we have used in this study was collected from a relatively small geographic area, and the numbers of family trios were limited, the associations of two SNPs we have screened require to be tested in larger patient groups. Key Words: APH1B, Association, Genetic Association, Schizophrenia, Genetics, SNP, Haplotype, Diplotype, FBAT.
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Karakaya, A. N. (2023). Genetic investigation of a haplotype on the APH1B gene in schizophrenia patients and their families. Yayınlanmış Yüksek Lisans Tezi. İnönü Üniversitesi, Malatya.
