Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3

• Published in: Journal of medical genetics Vol. 50; no. 11; pp. 725 - 732
• Main Authors: Al-Qahtani, Ahmed, Khalak, Hanif G, Alkuraya, Fowzan S, Al-hamoudy, Waleed, Alswat, Khalid, Al Balwi, Mohammed A, Al AbdulKareem, Ibrahim, Sanai, Faisal M, Abdo, Ayman A
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.11.2013; BMJ Publishing Group LTD
• Subjects: Adult; Alleles; Antigens; Arab; Biopsy; Chromosomes, Human, Pair 11; cirrhosis; Cohort Studies; Cytokines; Female; Ferredoxin; Genes; Genetic Predisposition to Disease; Genome-Wide Association Study; Genomes; GWAS; Health risk assessment; Hepatitis B; Hepatitis B virus; Hepatitis B, Chronic - epidemiology; Hepatitis B, Chronic - genetics; hepatocellular carcinoma; Humans; Immunology; Infections; Liver cancer; Liver cirrhosis; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Prospective Studies; Saudi Arabia - epidemiology; Software; Young Adult; Saudi Arabia; United States > US; Riyadh Saudi Arabia; GWAS; Ferredoxin; Arab; cirrhosis; hepatocellular carcinoma
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmedgenet-2013-101724

Background Hepatitis B virus (HBV) affects millions of people worldwide. While some people are able to clear the virus following the first encounter, those who develop chronic infection manifest remarkable clinical heterogeneity that ranges from asymptomatic carrier state to cirrhosis and hepatocellular carcinoma. Despite extensive studies, little is known about genetic host factors that influence the outcome of chronic HBV infection. Thus, we conducted this study to investigate the genetic risk of developing active liver disease among chronic carriers of HBV. Methods In this study, we conducted a genome-wide association study (GWAS) on a cohort of patients with chronic HBV infection. Results One particular SNP that is 16 kb upstream of Ferredoxin 1 was found to have an association with complicated chronic HBV infection (cirrhosis and hepatocellular carcinoma) that reached GWAS significance, and was successfully validated on an independent set of samples. Conclusions This first GWAS in an Arab population further demonstrates the utility of this approach in elucidating the genetic risk of HBV infection-related complications and highlights the advantage of conducting GWAS in different ethnicities to achieve that goal.