AI Summary & Key Takeaways
AI InsightThe frequency of individuals carrying GSTT1 null genotype was higher among SCA patients (64.9%) compared to controls (42.5%) (Odds Ratio, OR= 2.5, 95% Confidence Interval, CI= 1.8-4.2, p= 0.015).Present results showed that the frequency of combined polymorphism GSTT1/M1 null genotypes were not statistically significant.
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Abstract
Glutathione S-transferase gene deletions are known detoxification agents and cause oxidative damage. In different studies, variations in null allele frequency have been observed. We have investigated the prevalence of the GSTM1 and GSTT1 null genotypes in sickle cell disease (SCD) patients. Thirty-seven sickle cell anemia and forty controls were evaluated to determine the frequency of Glutathione S-transferase (GST) gene deletions. Complete blood counts were performed by an automated cell analyzer. Hemoglobin F, hemoglobin A, hemoglobin A2 and hemoglobin S were measured and diagnosis of patients was achieved by high performance liquid chromatography. The GST null genotype was determined using polymerase chain reaction (PCR) method. The prevalence of GSTM1-null genotype in SCD was 37.8%, compared to 55.0% in the control group (OR= 0.9, 95% CI= 0.3-2.8, p= 0.24). The frequency of individuals carrying GSTT1 null genotype was higher among SCA patients (64.9%) compared to controls (42.5%) (Odds Ratio, OR= 2.5, 95% Confidence Interval, CI= 1.8-4.2, p= 0.015).Present results showed that the frequency of combined polymorphism GSTT1/M1 null genotypes were not statistically significant. GSTT1 and GSTM1 showed no statistical significance between patients and control group in relation to both clinical and laboratory findings. We have observed that GSTT1 null genotypes were high among Egyptian sickle cell anemia patients and both GSTT1 and GSTM1 null genotypes were not related to both clinical and laboratory findings in SCD patients.
Özet
Glutathione S-transferaz gen delesyonları detoksifikasyon ajanları olarak bilinir ve oksidatif hasara yol açarlar. Farklı çalışmalarda, null alel frekanslarında varyasyonlar gözlenmiştir. Bu çalışmada orak hücre anemili olgularda GSTM1 ve GSTT1 null genotip prevelansını araştırdık. 37 orak hücreli anemi ve 40 kontrol olguda Glutathione S-transferaz (GST) gen delesyonu frekansı incelendi. Tam kan sayımı sonuçları otomatik hücre analizörü ile bakıldı. Hemoglobin F, hemoglobin A, hemoglobin A2 ve hemoglobin S seviyeleri ölçüldü. Hastaların tanıları yüksek performanslı likit kromatografi tekniği ile konuldu. GST null genotipi polimeraz zincir reaksiyonu (PCR) method ile saptandı. Orak hücre anaemili olgularda GSTM1-null genotip prevelansı %37.8, control grubunda ise %55.0 olarak saptandı (OR= 0.9, 95% CI= 0.3-2.8, p= 0.24). GSTT1 null genotip taşıyan birey frekansı orak hücreli anemili olgularda daha yüksekti (%64.9 vs. 42.5%) (Odds Ratio, OR= 2.5, 95% Confidence Interval, CI= 1.8-4.2, p= 0.015). GSTT1/M1 null genotipinin kombine frekansında anlamlı bir fark bulunmadı. GSTT1 ve GSTM1 klinik ve labaratuvar bulguları açısından her iki grupta benzerdi. Sonuç olarak, GSTT1 null genotipi Mısırlı orak hücre anemli olgularda daha yüksek olarak bulduk, ve gerek GSTT1 gerekse GSTM1 null genotipleri ile klinik ve labaratuvar sonuçları arasında bir ilişki saptayamadık.