Hilal Arıkoğlu, Dudu Erkoç Kaya, Mustafa Sait Gönen, Hülya Uçaryılmaz, Ahmet Bülent Turhan

Konya bölgesi popülasyonunda CAPN10 genindeki SNP-43 polimorfizmi Tip 2 Diabetes riski ileilişkilidir

Amaç: Kalpain-10 (CAPN10), Ca+2 bağımlı intrasellüler sistein proteazlar ailesinin atipik bir üyesidir. Birçok dokuda eksprese edilir ve başta insülin sekresyonu ve aktivitesi olmak üzere çok çeşitli hücresel fonksiyonlar için gereklidir. Tanımlanan ilk Tip 2 diyabet (T2D) yatkınlık genidir. Çalışmamızda bir Türk popülasyonunda CAPN10 gen polimorfizmleri (SNP-44, -43 ve -137) ile artmış T2D riski arasındaki ilişkinin analiz edilmesi amaçlandı. Gereç ve Yöntem: Çalışmaya 149 T2D’li hasta ve 48 sağlıklı birey dahil edildi. Genotiplendirme PCR-SSCP tekniği kullanılarak yapıldı, dizi analizi ile doğrulandı. CAPN10 genotiopleri ile T2D gelişimi ve klinik özellikler arasındaki ilişki istatistiksel olarak analiz edildi. Bulgular: Hastalıkla genotip arasındaki ilişkiyi belirlemek için yapılan odds analizi sonuçlarına göre; SNP-44 ile hastalık arasında ilişki gözlenmezken (OR: 1.417 CI:0.452-4.436, P=0.740), SNP-43 ile hastalık arasında anlamlı ilişki bulundu (OR: 0.455 CI:0.235-0.881, P=0.028). SNP-137 genotip dağılımı tüm hasta ve kontrol bireylerde C/C olarak tespit edildi. Taranan SNP’ler ile klinik parametreler arasında herhangi bir ilişki bulunmadı (P>0.05). Sonuç: Sonuçlarımıza göre; CAPN10 genindeki SNP-43, Türk popülasyonunda T2D gelişimi açısından bir risk faktörüdür.

SNP-43 polymorphism in CAPN10 gene is associated with Type 2 Diabetes risk in Konya region population

Objective: Calpain-10 (CAPN10) is an atypical member of the Ca2+ dependent intracellular cysteine proteases family. It is expressed in many tissues and is essential for multiple cellular functions such as insulin secretion and activity. It is the first type 2 diabetes susceptibility gene identified. In our study, we aimed to analyze the relationship between CAPN10 gene polymorphisms (SNP-44, -43 and -137) and increased type 2 diabetes risk in a Turkish population. Material and Methods: 149 T2D patients and 48 healthy individuals were included in the study. Genotyping was performed using the PCR-SSCP technique, confirmed by DNA sequence analysis. The association between CAPN10 genotypes and T2D development and clinical features was statistically analyzed. Results: According to the results of the odds analysis, while no correlation was observed between SNP-44 and disease (OR: 1.417 CI: 0.452-4.436, P=0.740), a significant correlation was found between SNP-43 and disease (OR: 0.455 CI: 0.235-0.881, P=0.028). SNP-137 genotype distribution was detected as C/C in all patient and control individuals. No correlation was found between the scanned SNPs and clinical parameters (P>0.05). Conclusion: According to our results; SNP-43 in the CAPN10 gene is a risk factor for the development of T2D in the Turkish population.

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