Non alkolik seatohepatitte PNPPLA 3/adiponutrin ile APOC3/apolipoprotein C3 gen polimorfizmi ve metabolik sendromla ilişkisi
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Date
2013
Authors
Aydın, Taner
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Non alkolik steatohepatit (NASH) anlamlı düzeyde alkol kullanımı olmayan insanlarda ortaya çıkabilen, diffüz yağlı infiltrasyon ve inflamasyon ile karakterize, histopatolojik olarak alkole bağlı steatohepatitten ayrılamayan bir kronik karaciğer hastalığıdır. Obezite ve diyabet sıklığındaki dramatik artışa paralel olarak non alkolik yağlı karaciğer hastalığı (NAFLD) prevalansı belirgin şekilde artmıştır ve batı toplumlarında karaciğer hastalığının en sık sebebi olmuştur. Etyopatogenezinde diyabetes mellitus, dislipidemi, obezite gibi metabolik bozukluklar, çeşitli ilaçlar ve toksinler dışında son zamanlarda genetik polimorfizmler de suçlanmaktadır. Öne çıkan iki polimorfizm adiponutrin (PNPLA3) ve apolipoprotein C3 (APOC3) geni ile ilişkilidir. Çalışmamızda NASH hastaları bu iki genetik polimorfizm ve bunların metabolik sendromla ilişkisi açısından incelenmiştir. Patolojik olarak teyit edilmiş 100 NASH hastası ve kontrol grubu olarak da NASH açısından risk faktörü taşımayan 50 gönüllü çalışmaya alınmıştır. NASH grubunun %57'si erkek, %43'ü kadın iken; kontrol grubunun %34'ü erkek ve %66'sı kadındı. NASH hastalarının %64'ünde metabolik sendrom saptanmıştır. NASH grubu PNPLA3 rs738409 polimorfizmi yönünden incelendiğinde bu grupta GG allelinin %26, kontrol grubunda ise %4 oranında görüldüğü saptandı ve aradaki fark istatiksel olarak anlamlı bulundu. APOC3 rs2854117 polimorfizmi açısından ise NASH ve kontrol grubu arasında anlamlı fark saptanmadı. Aynı zamanda NASH hastaları metabolik sendromu olanlar ve olmayanlar şeklinde iki gruba ayrıldıklarında; PNPLA3 ve APOC3 polimorfizmleri açısından aralarında anlamlı fark saptanmadı. Ancak NASH hastalarında PNPLA3 rs738409 GG allelinde HOMA indeksi anlamlı düzeyde daha yüksek bulunmuştur. Literatürde PNPLA3 polimorfizminde GG alleli ile NAFLD arasında güçlü ilişkiden bahsedilmektedir ve bizim çalışmamız da bunu desteklemektedir. Bu çalışma nonalkolik steatohepatitte genetik polimorfizmlerle ilgili Türk toplumundaki ilk çalışma olduğundan elde edilen bulguların desteklenmesi için ek çalışmaların yapılması gerekmektedir.
Nonalcoholic steatohepatitis (NASH) is a chronic liver disease seen in people not consuming significant amount of alcohol that is characterized with diffuse fatty infiltration and inflammation of the liver; and histopathologically indistinguishable from alcoholic steatohepatitis. The prevalance of NAFLD (non alcoholic fatty liver disease) has risen rapidly recently in parallel with the dramatic rise in obesity and diabetes. In recent years genetic polymorphisms are thought to play a role in etiopathogenesis besides metabolic disturbances such as diabetes mellitus, dyslipidemia, obesity and many drugs and toxins. The two commonly investigated genetic polymorphisms are adiponutrin (PNPLA3) and apolipoprotein C3 (APOC3) genes. In this study, these two polymorphisms and their relation with metabolic syndrome was evaluated in patients with nonalcoholic steatohepatitis. 100 patients with histopathologically confirmed NASH and a control group of 50 was admitted to the study. 57% of patients was male and 43% was female in NASH group; whereas 34% was male and 66% was female in the control group. 64% of patients in NASH group had metabolic syndrome. When NASH group was detailed regarding PNPLA3 rs738409 polymorphism, GG allel was seen in 26% of patients, while it was only 4% in controls. And this difference is statistically significant. On the other hand statistically significant difference was not detected regarding CG and CC allels between two groups. There was no significant difference between NASH group and control group regarding APOC3 rs285417 polymorphism. When patients with nonalcoholic stetohepatitis was seperated into two groups with or without metabolic syndrome, there were no significant differences regarding PNPLA3 and APOC3 polymorphisms between two groups. However, HOMA index was significantly higher in NASH patients with PNPLA3 rs738409 GG allele. Our study supported previous obsevations about the importance of PNPLA3 polymorphism in Nonalcoholic Steatohepatitis.
Nonalcoholic steatohepatitis (NASH) is a chronic liver disease seen in people not consuming significant amount of alcohol that is characterized with diffuse fatty infiltration and inflammation of the liver; and histopathologically indistinguishable from alcoholic steatohepatitis. The prevalance of NAFLD (non alcoholic fatty liver disease) has risen rapidly recently in parallel with the dramatic rise in obesity and diabetes. In recent years genetic polymorphisms are thought to play a role in etiopathogenesis besides metabolic disturbances such as diabetes mellitus, dyslipidemia, obesity and many drugs and toxins. The two commonly investigated genetic polymorphisms are adiponutrin (PNPLA3) and apolipoprotein C3 (APOC3) genes. In this study, these two polymorphisms and their relation with metabolic syndrome was evaluated in patients with nonalcoholic steatohepatitis. 100 patients with histopathologically confirmed NASH and a control group of 50 was admitted to the study. 57% of patients was male and 43% was female in NASH group; whereas 34% was male and 66% was female in the control group. 64% of patients in NASH group had metabolic syndrome. When NASH group was detailed regarding PNPLA3 rs738409 polymorphism, GG allel was seen in 26% of patients, while it was only 4% in controls. And this difference is statistically significant. On the other hand statistically significant difference was not detected regarding CG and CC allels between two groups. There was no significant difference between NASH group and control group regarding APOC3 rs285417 polymorphism. When patients with nonalcoholic stetohepatitis was seperated into two groups with or without metabolic syndrome, there were no significant differences regarding PNPLA3 and APOC3 polymorphisms between two groups. However, HOMA index was significantly higher in NASH patients with PNPLA3 rs738409 GG allele. Our study supported previous obsevations about the importance of PNPLA3 polymorphism in Nonalcoholic Steatohepatitis.
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Keywords
Non alkolik steatohepatit, PNPLA3, APOC3, Metabolik sendrom, Nonalcoholic steatohepatitis, Metabolic syndrome
Citation
Aydın, T. (2013). Non alkolik seatohepatitte PNPPLA 3/adiponutrin ile APOC3/apolipoprotein C3 gen polimorfizmi ve metabolik sendromla ilişkisi. Yayınlanmamış uzmanlık tezi. Uludağ Üniversitesi Tıp Fakültesi.