Study of the influence of heme oxygenase 1 gene single nucleotide polymorphism (rs2071746) on esophageal varices among patients with cirrhosis

Introduction Cirrhosis as a pathological term has some criteria known to be common in all cases of liver cirrhosis. Esophageal varices are portosystemic collaterals arising in the submucosa of the lower esophagus because of portal hypertension. Portal hypertension is defined as hepatic venous pressure gradient greater than 5 mmHg that arises often as a sequelae of mesenchymal dysfunction in a cirrhotic liver. This study was carried out on 120 personnel divided into three groups: group A included 50 cases of liver cirrhosis with esophageal varices, group B consisted of 50 cases of cirrhosis without esophageal varices, and group C had 20 healthy volunteers a control group. Patients and methods DNA was extracted from the peripheral blood of the study participants. Genotyping of the HO1 413A>T promoter SNP (rs2071746) was performed using TaqMan SNP genotyping assay according to the manufacturer's protocol by RQ-PCR. Results Patients carrying T allele of HO1 promoter were found to have 5.46-fold increased risk of esophageal varices development than patients with cirrhosis carrying A allele. T allele was significantly higher in cirrhotics with esophageal varices compared with those without esophageal varices (P<0.001). Rates of esophageal varices development in patients with cirrhotic liver were 52, 40, and 8% for genotypes TT, AT, and AA, respectively. Conclusion The T allele of heme oxygenase 1 gene SNP polymorphism (rs2071746) is a risk factor for esophageal varices development in cirrhotics.