Feridun AKKAFA, Oğuzhan KENGER, Mehmet Ali EREN

Diyabetik Nefropatili Hastalarda Paraoksonaz 1 Gen Polimorfizmlerinin Araştırılması

Amaç:. Bu çalışmada, Paraoksonaz 1 geni kodlanan bölge Q192R ve L55M polimorfizmleri ile Tip2 Diyabetli hastalarda Diyabetik Nefropati gelişimi arasındaki ilişkinin araştırılması amaçlandı. Materyal ve metod: Harran Üniversitesi Tıp Fakültesi Endokrinoloji Bilim Dalı polikliniklerine başvuran; Tip2 Diyabetli 50 hasta ( 25 erkek, 25 kadın; ort. yaş 52.06±8.43), Diyabetik Nefropatili 50 hasta ( 24 erkek, 26 kadın; ort. yaş 50.94±10.75) ve 50 sağlıklı kontrol (12 erkek, 38 kadın; ort. yaş 50.42±11.062) grupları çalışmaya alındı. Alınan periferik kan örneklerinden DNA izolasyonu yapıldı. Polimeraz zincir reaksiyonu ile elde edilen ürünler restriksiyon enzimleri AlwI ve Hin1II ile kesildi. Elde edilen ürünler agaroz jelde yürütüldü. UV görüntüleme ile polimorfizm genotiplemesi yapıldı. Bulgular: Paraoksonaz 1 geni Q192R (584A/G) polimorfizmini genotip dağılımı: Tip 2 Diyabet hasta grubunda; QQ %58, QR %32 ve RR %10 bulundu. Diyabetik Nefropati grubunda; QQ %52, QR %42 ve RR %6 bulundu. Sağlıklı kontrol grubunda; QQ %62 , QR %30 ve RR %8 bulundu. Gruplar arasında genotip frekansları yönünden istatistiksel olarak anlamlı bir fark görülmedi (p>0.05). Paraoksonaz 1 geni L55M (172T/A) polimorfizminin genotip dağılımı: Tip 2 Diyabet hasta grubunda LL %48, LM %32 ve MM %20 bulundu. Diyabetik Nefropati grubunda; LL %68, LM %26 ve MM %6 bulundu. Sağlıklı kontrol grubunda; LL %42, LM %42 ve MM %16 bulundu. Gruplar arasında genotip dağılımı yönünden istatistiksel olarak anlamlı bir fark görülmedi (p>0.05). M allel frekansının Tip 2 DM’li ve DN’li grupta istatistiksel olarak anlamlı olduğu görüldü (sırasıyla p=0.007, p=0.011). Sonuç: Bulgularımıza göre, Paraoksonaz 1 L55M allel frekansının, Tip2 Diyabet ve Diyabetik Nefropati hasta grubunda anlamlı çıkması, Paraoksonaz 1 L55M polimorfizminin bu hastalıkların gelişiminde risk faktörü olabileceğini düşündürmektedir. Paraoksonaz 1 geni Q192R ve L55M polimorfizmlerinin, Tip 2 Diyabet hastalarında Diyabetik Nefropatiye yakalanma riski ile ilişkili olmadığı görüldü.

Anahtar Kelimeler:

PON1, Tip2 Diabetes Mellitus, Diyabetik Nefropati, Polimorfizm

Investigation of Paraoxonase 1 Gene Polymophisms In Patients With Diabetic Nephropathy

Background: In this study, it was aimed to investigate the relationship between Q192R and L55M polymorphisms in the region encoding the Paraoxonase 1 (PON1) gene and the development of Diabetic Nephropathy in patients with Type 2 Diabetes.Materials and Methods: Applying to Harran University Medical Faculty Endocrinology Department polyclinics; 50 patients with Type 2 Diabetes, 50 patients with Diabetic Nephropathy and 50 healthy controls groups were included in the study. DNA isolation was performed from peripheral blood samples. The products obtained by polymerase chain reaction were cut with the restriction enzymes AlwI and Hin1II. The obtained products were run on an agarose gel. Polymorphism genotyping was performed by UV imaging.he study was planned as descriptive cross-sectional. The attitudes of the students studying at the Faculty of medicine towards scientific research were questioned. In the study, the ‘’Attitude Scale Towards Scientific Research ‘’ was used.Results: The genotype distribution of the paraoxonase 1 gene Q192R (584A/G) polymorphism: It was found QQ 58%, QR 32%, and RR 10% in Type 2 Diabetes patient group. It was found QQ 52%, QR 42%, and RR 6% in Diabetic Neph-ropathy group. It was found QQ 62%, QR 30%, and RR 8% in healthy control group. There was no statistically signifi-cant difference between the groups in terms of genotype frequencies (p>0.05). Genotype distribution of Paraoxona-se 1 gene L55M (172T/A) polymorphism:It was found LL 48%, LM 32%, and MM 20% in Type 2 Diabetes patient group. It was found LL 68%, LM 26%, and MM 6% in Diabetic Nephropathy group. It was found LL 42%, LM 42%, and MM 16% in healthy control group. There was no statistically significant difference between the groups in terms of genotype frequencies (p>0.05). M allele frequency was found to be statistically significant in Type 2 Diabetes and Diabetic Nephropathy groups (p=0.007, p=0.011, respectively).Conclusions: According to our findings, the fact that Paraoxonase 1 L55M allele frequency was significant in Type 2 Diabetes and Diabetic Nephropathy patient groups suggests that Paraoxonase 1 L55M polymorphism may be a risk factor in the development of these diseases. Paraoxonase 1 gene Q192R and L55M polymorphisms were not associa-ted with the risk of developing Diabetic Nephropathy in Type 2 Diabetes patients.

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