Gestasyonel diyabet gelişiminde KCNJ11 geninin rolü
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Gestasyonel Diabetes Mellitus (GDM) değişik şiddette hiperglisemi ile sonuçlanan gebelik sırasında başlamış veya ilk defa gebelik sırasında fark edilmiş olan herhangi bir düzeydeki glukoz tolerans bozukluğudur. Bu çalışmada, Tip 2 Diabetes Mellitus (T2DM)'a geçiş sürecinin önemli belirleyicisi olan GDM'nin ortaya çıkmasında genetik yatkınlık oluşturabileceği düşünülen Kir6.2 kanal proteinini kodlayan KCNJ11 geninin toplumumuzdaki GDM'li bireylerde taranması ve tek nükleotid polimorfizmlerinin (SNP) belirlenerek hastalıkla ilişkileri bakımından değerlendirilmesi amaçlandı. Gereç ve yöntem: Çalışmaya Selçuk Üniversitesi Tıp Fakültesi İç Hastalıkları Anabilim Dalı Endokrinoloji Bilim Dalı'na başvurarak GDM tanısı konmuş 74 gebe birey ve kontrol grubu için 49 sağlıklı gebe birey dahil edildi. KCNJ11 geninin kodlanan bölgesinin tamamı Polimeraz Zincir Reaksiyonu (PZR) ile çoğaltılarak çift yönlü dizi analizi ile değerlendirildi. İstatistiki analizlerde p0.05 anlamlı kabul edildi. Bulgular: Çalışmamızda literatürde rapor edilen 15 SNP' ten sadece 5 tanesi tespit edildi. Literatürden farklı olarak toplumumuza özgü yeni bir SNP belirlenmedi. Additif, dominant ve resesif modeller kurularak yapılan ilişki analizlerinde SNP E23K, A190A, I337V ile GDM arasında anlamlı bir ilişkisi saptanmadı. L267L ve L270V polimorfizmleri, görülme sıklıklarının çok düşük olması nedeniyle, istatistiki değerlendirmeye alınmadı. Sonuç: Bugüne kadar birçok popülasyonda, T2DM'nin genetik zemininde yer aldığı gösterilen KCNJ11 genindeki polimorfizmler ile toplumumuzda GDM hastalığı arasında bir ilişki tespit edilmedi. Bu çalışma ile ülkemizde ilk kez GDM'nin genetik zeminine yönelik olarak KCNJ11 geninin etkisi araştırılmış ve daha sonra yapılacak çalışmalar için bir temel oluşturulmuştur.
Objectives: Gestational Diabetes Mellitus (GDM) is impaired glucose tolerance at any level, which began during pregnancy or was noticed for the first time during pregnancy resulting in varying degrees of hyperglycemia. In this study, we aimed to scan the KCNJ11 gene encodes Kir6.2 channel protein, thought to make susceptible to GDM which is important determinant of Type 2 Diabetes Mel- litus (T2DM) transition, and to evaluate the associations with the disease by determining the single nucleotid polymorphisms (SNP). Material and methods: Seventy four pregnant diagnosed as GDM and 49 healthy pregnant for control group from Department of Endocrinology Faculty of Medicine Selcuk University were included in our study. The whole coding region of the KCNJ11 gene was amplified by Polymerase Chain Reaction (PCR) and was evaluated by two-way sequencing analysis. In statistical analyzes, p<0.05 was considered significant. Results: In our study, 5 of the 15 SNPs reported in the literature were determined. We did not find any new SNP specific to our population. No significant association was determined between SNP E23K, A190A, I337V with GDM under additive, dominant and recessive models (p>0.05). Statistical analysis could not be performed for L267L and L270V polymorphisms because of their low frequency. Conclusion: No association was determined between GDM and the polymorphisms in KCNJ11 which have shown in the genetic basis of T2DM in many populations until today. With this study for the first time the effect of KCNJ11 gene on genetic basis of GDM was investigated and presented a basic work for subsequent studies.
Objectives: Gestational Diabetes Mellitus (GDM) is impaired glucose tolerance at any level, which began during pregnancy or was noticed for the first time during pregnancy resulting in varying degrees of hyperglycemia. In this study, we aimed to scan the KCNJ11 gene encodes Kir6.2 channel protein, thought to make susceptible to GDM which is important determinant of Type 2 Diabetes Mel- litus (T2DM) transition, and to evaluate the associations with the disease by determining the single nucleotid polymorphisms (SNP). Material and methods: Seventy four pregnant diagnosed as GDM and 49 healthy pregnant for control group from Department of Endocrinology Faculty of Medicine Selcuk University were included in our study. The whole coding region of the KCNJ11 gene was amplified by Polymerase Chain Reaction (PCR) and was evaluated by two-way sequencing analysis. In statistical analyzes, p<0.05 was considered significant. Results: In our study, 5 of the 15 SNPs reported in the literature were determined. We did not find any new SNP specific to our population. No significant association was determined between SNP E23K, A190A, I337V with GDM under additive, dominant and recessive models (p>0.05). Statistical analysis could not be performed for L267L and L270V polymorphisms because of their low frequency. Conclusion: No association was determined between GDM and the polymorphisms in KCNJ11 which have shown in the genetic basis of T2DM in many populations until today. With this study for the first time the effect of KCNJ11 gene on genetic basis of GDM was investigated and presented a basic work for subsequent studies.
Açıklama
Anahtar Kelimeler
Genel ve Dahili Tıp
Kaynak
Genel Tıp Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
25
Sayı
4
