Heme oxygenase 1 gene single nucleotide polymorphism (rs2071746) as a predictor of esophageal varices development in cirrhotic patients

Background

Portal hypertension is the pathophysiological process associated with the occurrence of portosystemic collaterals and usually ends with the development of Esophageal varices (EVs). Early detection helps to avoid or delay variceal bleeding. This disease is related to increased oxidative stress in the liver. One of the antioxidant enzymes that guard cells against damage from this stress is Heme oxygenase-1 (Hmox1). This study aimed to assess the reliability of single nucleotide polymorphism (SNP) in (Hmox1) (rs2071746) as a noninvasive approach for predicting the development of EVs and its importance for proper interpretation in clinical practice.

Methods

50 cirrhotic patients with esophageal varices and 50 cirrhotic patients without varices were enrolled in this study. Laboratory assesment, ultrasound, and endoscopy were done. They were genotyped for Hmox1 (rs2071746) by TaqMan allele discrimination real-time PCR on a Rotor-Gene System.

Results

Patients with esophageal varices had statistically significant lower platelet count and platelets count / splenic diameter ratio, and higher portal vein diameter than those without EVs. T allele frequency was higher in Patients with varices than those without (P-value= 0.03). Carrying TT genotype of Hmox1promotor had 13.5fold increased risk for esophageal varices development than carrying AA genotype.

Conclusion

T allele in Hmox1 SNP (rs2071746) gene could be a useful predictor of EVs presence in cirrhotic patients. Hmox1 is a promising genetic factor that influence the development and the grade of EVs in cirrhotic patients. It can also be used in prediction and risk stratification of such patients.