Tip 2 diyabetin moleküler genetik temeli; Son gelişmeler

Tip 2 Diabetes Mellitus, prevalansındaki çarpıcı artış, etkilenen doku ve organların çeşitliliği ve bunların sağlık sistemine getirdiği ekonomik yük nedeniyle dünya genelinde ciddi bir sağlık sorunu olmaya devam etmektedir. Kompleks bir metabolik hastalık olan tip 2 diyabetin klinik heterojenitesi, hastalığın ortaya çıkışında rol oynayan çevresel ve genetik faktörlerin çeşitliliğinden ve birbirleriyle etkileşimlerinden kaynaklanmaktadır. Bugüne kadar aday gen yaklaşımı ve genom boyu ilişki çalışmaları ile yaklaşık 70 yatkınlık geni tip 2 diyabet ile ilişkili olarak tanımlanmıştır . Hastalığın genetik mimarisinin anlaşılması, risk profillerinin belirlene- rek tanıdan tedaviye klinik yararlanımda kullanımına katkı sağlaması bakımından önem arz etmektedir. Bu derlemede, son 20 yıldır hastalığın genetik arka planını ortaya koymaya yönelik gerçekleştirilen çalışmalar ele alınarak hedeflenen klinik yararlanımda gelinen mevcut durum tartışılmaktadır.

Molecular genetic basis of type 2 diabetes; Current status

Type 2 Diabetes Mellitus, continues to be a serious health problem throughout the world due to the dramatic increases in its preva- lence, diversity of affected tissues and organs and also the economic burden on the health system. The clinical heterogeneity of type 2 diabetes which is a complex metabolic disease, is resulted from the diversity of environmental and genetic factors involved in the emergence of the disease and their interactions. To date, approximately 70 susceptibility gene was reported as associated with type 2 diabetes by candidate gene approach and genome-wide association studies . An understanding of the genetic architecture of the disease is important to provide contribution in clinical benefit for diagnosis and treatment by determining the risk profiles. In this review, the current knowledge about type 2 diabetes genetics and current status of the targeted clinical utility is argued by discus- sing the studies performed for the last 20 years to reveal the genetic background of the disease.

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