HFE gene mutations in cryptogenic and HBV related cirrhosis

Yıl 2009, Cilt: 8 Sayı: 2, 69 - 73, 01.08.2009

Yekta Tüzün Mustafa Yakut Mehmet Dursun Kadim Bayan Şerif Yılmaz Sabri Batun Bilge Devecioğlu

Öz

Background/aims: The liver leads the list among the affected organs in hereditary hemochromatosis. We have limited knowledge about HFE gene mutations in cryptogenic cirrhosis and hepatitis B virus -related cirrhosis, which are the two important sub-titles in liver cirrhosis. We studied HFE gene mutations in these patient groups. Methods: Fiftyeight patients with cirrhosis were included in the study. The patients were divided into two equal groups. Group 1 consisted of patients with cryptogenic cirrhosis and Group 2 of patients with cirrhosis appearing on the base of hepatitis B virus . The following 12 mutations of the HFE gene were studied in both groups: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, and Q282P. Results: Eighteen patients were female and 40 were male. The average age in the first group was 44.35±20.6 and in the second group was 49.39±12.17; there was no statistically significant difference between the groups (p=0.230). In the cryptogenic cirrhosis patients, the total rate of allelic H63D mutation was found as 24.13% (7/29). C282Y heterozygote mutation was determined in one patient (1/29; 3.44%). In the second group, total allelic mutation rate was 20.68% (6/29). No statistically significant difference was determined between the two groups with respect to mutation rates (p=1.0). The total prevalences of H63D and C282Y mutations were found as 22.4% (13/58) and 1.72% (1/58), respectively. H63D homozygosity was found as 3.44% (2/58) and heterozygosity as 18.96% (11/58). Conclusions: The HFE gene mutation rates in cryptogenic and hepatitis B virus cirrhosis were found to be similar. C282Y mutation has been put forward in this study for the first time in our area.

Anahtar Kelimeler

Hemochromatosis, HFE gene mutations, cryptogenic cirrhosis

Kriptojenik ve HBV ilişkili sirozda HFE gen mutasyonları

Öz

Giriş ve Amaç: Karaciğer herediter hemokromatoziste etkilenen organların başında gelmektedir. Karaciğer sirozunda 2 önemli alt başlık olan kriptojenik siroz ile Hepatit B Virus (HBV) ilişkili sirozda HFE gen mutasyonları ile ilgili kısıtlı bilgiye sahibiz. Bu hasta gruplarında HFE gen mutasyonlarını inceledik. Gereç ve Yöntem: Çalışmaya 58 sirozlu hasta alındı. Hastalar eşit sayıda 2 gruba ayrıldı. 1.grubu kriptojenik sirozlar; 2. grubu HBV zemininde gelişen sirozlular oluşturdu. Her iki grupta HFE geninin 12 mutasyonuna bakıldı: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, Q282P. Bulgular: 58 hastanın 18'i kadın, 40'ı erkekti. Ortalama yaş 1. grupta 44.35±20.6; 2. grupta 49.39±12.17 idi. İki grup arasında istatistiksel anlamlı fark yoktu (p=0.230). Kriptojenik sirozlularda toplam allelik H63D mutasyon oranı %24.13 (7/29) bulundu. Bir hastada (1/29; %3.44) C282Y heterozigot mutasyonu saptandı. İkinci grupta toplam allelik mutasyon oran %20.68 (6/29) idi. Mutant hasta sayısı itibariyle iki grup arasında istatistiksel anlamlı farklılık saptanmadı (p=1.0). H63D ve C282Y mutasyonlarının total prevalansı sırasıyla %22.4 (13/58) ve %1.72 (1/58) olarak saptandı. H63D homozigotluğu %3.44 (2/58), heterozigotluğu %18.96 (11/58) sıklıkta saptandı. Sonuç: Kriptojenik ve HBV sirozlularda HFE gen mutasyonu oranları benzer bulundu. C282Y mutasyonu bölgemizde ilk kez bu çalışma ile ortaya kondu.

Anahtar Kelimeler

Hemokromatozis, HFE gen mutasyonlar›, kriptojenik siroz