FREQUENCY AND GENOTYPE‐PHENOTYPE CORRELATIONS OF MCP1, ENOS, TPA AND PAI‐1 GENE POLYMORPHISM IN CHILDREN WITH HEPATOPULMONARY SYNDROME
Makaleler > Tam Makale · 2006
Yazarlar: G. Tumgor, A Berdeli, Z Ulger, C Arikan, Sema AYDOĞDU
Journal of Pediatric Gastroenterology and Nutrition, Uluslararası, Wos, 2006, cilt 42
DOI: 10.1002/j.1536-4801.2006.tb01760.x
Özet
In this study; we aimed to analyze the frequency and genotype-phenotype correlations of MCP-1, eNOS, tPA and PAI-1 gene polymorphism in children with hepatopulmonary syndrome (HPS). Cirrhotic patients without HPS served as control group. Between September 1997-January 2005, 20 patients with HPS (median age 5.4 years; range 1-16 years, M/F; 10/10) were followed up at Ege University Pediatric Gastroenterology, Hepatology and Nutrition Unit. Cirrhosis and its complications were determined by biochemical, serologic, histopathological, sonographic and endoscopic investigations. All patients were evaluated by chest radiography, arterial blood gas analysis (hypoxemia, hypocapnia) (while lying and standing), contrast echocardiography (ECHO) by 0.9% NaCl. Final confirmation of the diagnosis HPS was made with positive contrast ECHO. 20 patients with HPS (Group 1) were compared with a group of cirrhotic patients (Group 2, n=19) as well as unrelated healthy controls (Group 3, n = 59) in respect to MCP1, eNOS, tPA and PAI-1 gene polymorphism frequency distribution. MCP1-2518A/G, PAI1-4G/5G, eNOS Glu298Asp gene polymorphism were analysed by PCR-RFLP method. tPA (I/D) gene polymorphism was genotyped by the AS-PCR method. Associations were assessed by using two independent sample test and Chi Square test. The frequency of tPA and PAI-1 gene polymorphism was not different among the groups (p > 0.05). The frequency of eNOS Asp 298 allele was significantly higher in patients with cirrhosis than both the patients with HPS and healthy controls (74%, 40%, and 37%, respectively and p < 0.05). MCP1-2518G allele frequency was more common in patients with HPS (). MCP1 gene polymorphism may be predisposition gene for HPS, but further studies with more patients are needed.