Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

AbstractAimVarious mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease.MethodsOne hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene.ResultsAs a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p<0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p>0.05).ConclusionsTo our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed

Research on the impact of the (A-G) 138 and (C-A) 165 codon polymorphisms in MEFV gene over the familial mediterranean fever

Ailevi Akdeniz Ateşi (AAA,FMF)'den sorumlu olduğu bildirilmiş Mediterranaen Fever (MEFV) geninde, bugüne kadar birçok mutasyon tanımlanmıştır. Çalışmalarda genotip fenotip ilişkisinin bulunduğu ileri sürülmektedir. Çalışmamızda, bölgemizdeki MEFV mutasyon sıklıklarının belirlenmesi ve bilinen mutasyonların dışında hastalığın oluşumunda ve seyrinde etkili olabilecek 138. kodon (A-G) ve 165. kodon (C-A) gen polimorfizmlerinin hastalığa olan etkisini araştırmayı amaçladık.Çalışmaya, MEFV geninde mutasyon saptanan ve kinik olarak da AAA tanısı doğrulanan 116 olgu, kontrol grubu olarak ise MEFV geninde mutasyon saptanmayan ve klinik olarak da AAA tanısı dışlanan 95 kişi alındı. MEFV geninin 2. ve 10. ekzonunda bulunan en yaygın 10 mutasyonu belirlemek için DNA dizi analizi yöntemi kullanıldı. İstatistiksel analizde, p0.05).Çalışmamız, bildiğimiz kadarıyla Güney Marmara bölgesinde MEFV mutasyonların sıklığını bildiren ilk çalışmadır. Bulgularımız,138.kodon (G-A) ve 165.kodon (C-A) polimorfizmlerinin hastalık gelişimine etkisinin olabileceğini göstermektedir. MEFV geninde bulunan bu polimorfizmleri araştıran daha fazla olgu sayılı çalışmalara gereksinimin olduğunu düşünmekteyiz.Research on the Impact of the (A-G) 138 and (C-A) 165 Codon Polymorphisms in MEFV Gene Over The Familial Mediterranean FeverVarious mutations have been identified in the Mediterranean Fever (MEFV) gene which is reported to be responsible from Familial Mediterranean Fever (AAA, FMF). In various researches it is claimed that there is a relation between the genotype and phenotype. In our study, we aimed to determine the frequency of the MEFV mutations in our region and notwithstanding the mutations that are known, we aimed to investigate the impact of codon 138 (A-G) and codon 165 (C-A) gene polymorphisms on the development and progress of the disease.In our study we included 116 subjects for which FMF diagnosis was verified clinically and mutation was identified in MEFV gene and 95 people in the control group who for which the FMF diagnosis was negative clinically and no mutation has been identified in MEFV gene. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene. In statistical analysis value of p0.05).To our knowledge, our study is the first study in the South Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of codon 138 (G-A) and codon 165 (C-A) may have an impact on progress of the disease. We think that more research with higher number of cases investigating the polymorphisms of MEFV gene is needed

Investigation of Glutathione-S-Transferases (GSTT1 and GSTM1) Gene Polymorphisms in Turkish Patients with Type 1 Diabetes(T1D)

Oksidatif stres, tip 1 diyabet (T1D) ve komplikasyonlarının gelişiminde önemli bir rol oynamaktadır Oksidatif stresin zararlı etkilerine karşı savunma sistemlerinden biri de Glutatyon-S-Transferaz (GST) dır. Çalışmamızda, GSTT1 ve GSTM1 gen polimorfizmleri ile T1D li Türk hastalar arasındaki ilişkiyi araştırmayı amaçladık. Çalışmamıza, T1D tanısı konmuş 71 hasta ile 62 kontrol birey dahil edildi. GSTM1 ve GSTT1 gen polimorfizmini değerlendirmek için multiplex PCR yöntemi kullanıldı. İstatistiksel analizde anlamlılık düzeyi p 0.05). Bu sonuçlar GSTT1 ve GSTM1 negatif(null) genotiplerinin T1D ve komplikasyonların gelişimi için katkısının olmadığını göstermektedir fakat daha geniş olgu sayılı çalışmalara ihtiyaç vardır.Oxidative stress plays an important role in the development of type 1 diabetes(T1D) and its complications. Glutathione-S-Transferases (GST) is one of the defense systems against the harmful effects of oxidative stress. In our study, we aimed to investigate the relationship between GSTT1 and GSTM1 gene polymorphisms and Turkish patients with T1D. In our study, 71 patients were diagnosed with T1D and 62 control subjects were included. GSTM1 and GSTT1 gene polymorphisms were used to evaluate the multiplex PCR method.In statistical analysis, the level of significance was set at p&lt;0.05. GSTT1 and GSTM1-negative (null) genotypes were evaluated statistically, no signifi- cant difference was found between the groups (p&gt;0.05). These results show that GSTT1 and GSTM1-negative (null) genotypes may not contribute to the development of T1D and its complications but more studies with larger sample size are needed