Buket HAYAT, Muhsin Selçuk YAVUZ, Engin ŞAHİN, Onur DİRİCAN, Sezen YILMAZ SARIALTIN, Can YILMAZ, Işıl YILDIRIM, Tülay ÇOBAN, Gülçin GÜLER ŞİMŞEK, Serpil OĞUZTÜZÜN

KRONİK OBSTRÜKTİF AKCİĞER HASTALIĞINDA GLUTATYON-S TRANSFERAZ MU1 VE TETA1 POLİMORFİZMLERİNİN ROLÜ

Amaç: Çalışmamızın amacı, KOAH hastalığının oluşumunda GSTM1 ve GSTT1 gen bölgesindeki “null” allellerinin rolü olup olmadığını araştırmaktır. Gereç ve Yöntem: Bu çalışmada, Polatlı Duatepe Devlet Hastanesi Göğüs hastalıkları bölümünden Etik Kurul izni alınmış 36 KOAH’lı hasta ve 14 kontrol vakası bulunmaktadır. 2019 yılı içerisinde hasta ve kontrol grubundan alınmış olan kan örneklerinden DNA izolasyonları yapıldı. KOAH hasta ve kontrol grubunda qPCR metodu ile GSTM1 ve GSTT1 gen bölgelerinde ki delesyon durumları incelendi. Çalışmanın sonuçları Hardy Weinberg, Chi-Squared ve fisher’s exact kuralına göre gen dozu seviyesinde dağılımları yapılarak karşılaştırmalı olarak değerlendirmeye alındı. Sonuç ve Tartışma: Yapılan qPCR analizleri sonrası 36 KOAH hastasından alınan numunelerde, tüm hasta grubunda gen dozlarına bağlı delesyon ifadelerinden; GST-M1 için (+/-) genotipinde 23 birey (%63,8), (-/-) genotipinde 13 birey (%26,2) şeklinde gözlemlenmiştir. GST-T1 için, (+/+) genotipinde 14 bireyde (%38,8) delesyon en yüksek oranda gözlemlenirken, (+/-) genotipinde 4 bireye (%11,1) ve (-/-) genotipinde 18 bireye (%50,1) rastlanmıştır. GST-M1 için erkek bireylerde (+/-) genotipinde delesyon 19 bireyde (%63,3) gözlemlenirken kadınlarda aynı genotipte 4 bireyde (%66,6) şeklinde gözlemlenmiştir. Erkeklerde 11(%36,7) hastada GST-M1 delesyonu gözlemlenmezken, bu oran kadınlarda 2(%33,4) şeklinde gözlemlenmiştir. GST-T1 de bu durum delesyonun gerçekleştiği ve “null allel” frekansının yüksek olarak gözlemlendiği (+/+) genotipinde erkek hastalarda 10(%33,3), kadın hastalarda ise 4(%66,6) bireye rastlanmıştır. (+/-) Genotipinde erkeklerde 3(%10) kadınlarda ise 1(%16,7) bireye rastlanmıştır. Delesyonun gözlemlenmediği ve genin korunduğu (-/-) genotipinde erkek hastalarda 17(%56,7), kadın hastalarda ise 1(%16,7) birey gözlemlenmiştir. Yapmış olduğumuz çalışmada, GST-M1 gen bölgesinde gen “null” allel durumunun GST-T1 gen bölgesine göre bir miktar daha fazla olduğu belirlenmiş olup bu durumun kronik obstrüktif akciğer hastalığında etken olduğu düşünülmektedir.

HE ROLE OF GLUTATION-S-TRANSFERASE MU1 AND TETA1 POLYMORPHISMS IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE

Objective: The aim of this study the investigation of "null" alleles in GSTM1 and GSTT1 gene regions in the development of COPD disease. Material and Method: There are 36 patients with COPD and 14 control cases, who received the Ethics Committee permission from Polatlı Duatepe State Hospital Chest Diseases Department. DNA isolations were made from blood samples from the end of 2019 and the control group. Deletions in GSTM1 and GSTT1 gene regions were examined by qPCR method in COPD patient and control groups. The results of the study were evaluated comparatively by distributing the gene dose according to the Hardy-Weinberg. Result and Discussion: When seen from 36 COPD patients after qPCR analysis, it was found that deletion expressions due to gene doses in all patient groups; 23 individuals (63.8%) in the (+/-) genotype for GST-M1, 13 individuals (26.2%) in the (- / -) genotype. For GST-T1, 14 (%) in the (+ / +) genotype 38.8), while deletion was observed with the highest rate, 4 individuals (11.1%) in the (+/-) genotype and 18 individuals (50.1%) in the (- / -) genotype were found. For GST-M1, deletion was observed in 19 individuals (63.3%) in the genotype (+/-) in male individuals, while it was observed in 4 individuals (66.6%) with the same genotype in women. While deletion was not observed in 11 (36.6%) male patients, this rate was observed as 2 (33.4%) in women. In the GST-T1 gene region, there were 10 (33.3%) males in male patients and 4 (66.6%) individuals in female patients with deletion occurring and the frequency of the "null allele" was high (+ / +). In the (+/-) genotype, 3 (10%) in males and 1 (16.7%) in females were found. In the genotype where deletion was not observed and the gene was conserved (- / -), 17 (56.7%) individuals were observed in male patients and 1 (16.7%) in female patients. In the case that the gene "null" allele status in the GST-M1 gene region is slightly higher than the GST-T1 gene communication, this situation is thought to be a factor in obstructive pulmonary disease.

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