Genetic Risk Factors in Chronic Obstructive Lung Disease (COPD)

Yıl 2010, Cilt: 19 Sayı: 3, 168 - 179, 01.09.2010

Mehmet Ali Erkoç Ceyhun Bereketoğlu Davut Alptekin

Öz

COPD is a leading cause of morbidity and mortality among the adult population. The major risk factor of COPD is, undoubtedly, cigarette smoking. In a significant proportion of smokers clinically significant airflow obstruction develops. Exogenous factors outside the meeting, increasing susceptibility to disease and genetic factors in the development of the disease is thought to play an important role.Apart from the contribution by the well-recognized α-1 antitrypsin deficiency, the genetic basis of COPD is poorly understood. However, many genes are thought to be associated with COPD. The most important ones are α-1-antitrypsin (AAT), α-1-antichymotrypsin (AACT), matrix metalloproteinase (MMP), microsomal epoxide hydrolase (EPHX1), glutathione S-transferase (GST), tumor necrosis factor-α (TNF ) and transforming growth factor beta (TGFβ).

Anahtar Kelimeler

chronic obstructive pulmonary disease; COPD, genetic, α-1-antitrypsin.

Kronik Obstrüktif Akciğer Hastalığında (KOAH) Genetik Risk Faktörleri

Öz

KOAH erişkinlerde önemli bir morbidite ve mortalite nedenidir. KOAH'a ilişkin şüphesiz en önemli risk faktörü sigara içimidir. Sigara içenlerin ancak önemsiz bir oranında klinik olarak önemli hava yolu obstrüksiyonu gelişir. Ekzojen faktörlerle karşılaşma dışında, hastalığa karşı duyarlılık artışında ve hastalığın gelişmesinde genetik faktörlerin de önemli rol oynadığı düşünülmektedir. İyi bilinen α-1 antitripsin eksikliği dışında KOAH'ın genetik temeli tam anlaşılmamıştır. Ancak KOAH ile ilişkili olduğu düşünülen pek çok gen vardır. Bunların en önemlileri α-1-antitripsin (AAT), α-1-antikimotripsin (AACT), Matriks metalloproteinaz (MMP), Mikrozomal epoksit hidrolaz (EPHX1), Glutatyon S-transferaz (GST), Tümör nekroz faktör-α (TNF), Transforme edici büyüme faktörü (TGFβ) 'dır.

Anahtar Kelimeler

Kronik Obstrüktif Akciğer Hastalığı, KOAH, genetik, α-1-antitripsin

Kaynakça

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