MESLEK HASTALIKLARIYLA İLİŞKİLİ GENETİK POLİMORFİZMLERİN MOLEKÜLER MEKANİZMALARI

Yıl 2020, Cilt: 83 Sayı: 2, 152 - 161, 23.03.2020

Gözde Öztan Halim İşsever

Öz

Meslek hastalıkları, iş yerinde fiziksel, kimyasal, biyolojik ve psikolojik etkenlerle karşılaşan çalışanın kişisel özelliklerine bağlı olarak gelişen geçici veya sürekli hastalıklardır. Tamamen önlenebilir hastalıklardan olan meslek hastalıkları, beslenme alışkanlığı, genetik varyasyonlar, sigara ve alkol kullanımı, obezite gibi bir çok faktöre bağlı olarak ortaya çıkmaktadır. Meslek hastalıklara karşı duyarlılıkta popülasyondaki kişisel farklılıkların belirlenmesini sağlayan hastalığa yatkınlık nedeni olan genetik polimorfizmlerin bir kısmı hastalık riskini arttırırken, bir kısmı da azaltabilmektedir. Bu derlemenin amacı; meslek hastalıklarına yatkınlıkla ilgili genetik polimorfizm profilleri kullanılarak genlerin ve polimorfizmlerin belirlenmesiyle hastalıklara yatkınlık taraması yapılmasının ve hastaların genotipine uygun bireysel tedavi seçeneklerinin geliştirilmesinin olası yararlarını araştırmaktır. Genel popülasyondaki yüksek prevalansları nedeniyle, çevresel risklere duyarlılığı belirleyen genetik polimorfizmler, işyerinde ortaya çıkan spesifik risklerin belirlenmesiyle mesleki hastalıkların tespitine büyük katkı sağlayabilirler. Korunma önlemleri yeterince alınmayan iş yerlerinde, genetik olarak yatkınlık taşıyan kişilerde, duyarlılaştırıcı özellik taşıyan etkenlerle yoğun ve uzun süreli temasta riskin artacağı açıktır. İşyerinde genetik duyarlılıkları araştıran çalışmalar, hastalığın etiyolojisinin, özellikle de çevreye duyarlı genlerin belirlenmesini; maruz kalma açısından hassas alt popülasyonların tanımlanmasını; genetik duyarlılığı göz önünde bulundurarak mesleki maruz kalma sınırlarının belirlenmesinde faydalı veriler sağlamaktadır. Genetik duyarlılık polimorfizmlerinin hastalık riskini belirlemede açık bir rolü olsa bile, çalışma ortamlarındaki geniş ölçekli genetik taramanın değeri, etik ve sosyal kaygılar nedeniyle sınırlı kalmaktadır. Bu nedenle, işyerlerinde büyük ölçekli genetik tarama yapılması şu anda önerilmemektedir. 

Anahtar Kelimeler

Genetik polimorfizm, meslek hastalıkları, gürültüye bağlı işitme kaybı, kurşun zehirlenmesi, pnömokonyoz

MOLECULAR MECHANISMS OF GENETIC POLYMORPHISMS RELATED TO OCCUPATIONAL DISEASES

Öz

Occupational diseases are transient or permanent and completely preventable diseases that occur due to many factors (feeding habits, genetic variations, obesity etc) that develop depending on the personal characteristics of the employees who encounter physical, chemical, biological and psychological factors at work. Some of the genetic polymorphisms may increase the risk of disease while others may reduce it. The aim of this review is to investigate the possible benefits of susceptibility screening for diseases by identifying genes and polymorphisms, using genetic polymorphism profiles related to occupational disease susceptibility, and developing individual treatment options appropriate to the genotype of the patients. Genetic polymorphisms that determine susceptibility to environmental risks can contribute greatly to the identification of occupational diseases by identifying specific risks in the workplace. It is evident that the risk of intense and prolonged contact with sensitizing agents will increase in genetically susceptible individuals. Studies investigating genetic susceptibilities in the workplace determine the etiology of the disease, environmentally sensitive genes and identify sensitive subpopulations; providing beneficial data for determining occupational exposure limits considering genetic sensitivity. The value of large-scale genetic screenings in work environments remains limited due to ethical and social concerns. Therefore, large-scale genetic screening in workplaces is not currently recommended.

Anahtar Kelimeler

Genetic polymorphism, occupational diseases, noise-induced hearing loss, lead poisoning, pneumoconiosis

Kaynakça

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