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

被引：20

作者：

Al-Qahtani, Ahmed ^{[1
,2
]}

Khalak, Hanif G. ^{[3
]}

Alkuraya, Fowzan S. ^{[4
,5
,6
]}

Al-hamoudy, Waleed ^{[2
,7
]}

Alswat, Khalid ^{[2
,7
]}

Al Balwi, Mohammed A. ^{[8
,9
,10
]}

Al AbdulKareem, Ibrahim ^{[8
,10
]}

Sanai, Faisal M. ^{[2
,11
]}

Abdo, Ayman A. ^{[2
,7
,12
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Infect & Immun, Riyadh 11211, Saudi Arabia

[2] King Saud Univ, Liver Dis Res Ctr, Riyadh 11461, Saudi Arabia

[3] Weill Cornell Med Coll, Dept Computat Genet, Doha, Qatar

[4] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Res Ctr, Riyadh 11211, Saudi Arabia

[5] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

[6] King Saud Univ, Coll Med, Dept Pediat, Riyadh 11461, Saudi Arabia

[7] King Saud Univ, Dept Med, Div Gastroenterol, Riyadh 11461, Saudi Arabia

[8] King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia

[9] King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia

[10] King Saud bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

[11] King Abdul Aziz Med City, Dept Hepatobiliary Sci & Liver Transplant, Riyadh, Saudi Arabia

[12] Univ Calgary, Dept Med, Calgary, AB, Canada

来源：

JOURNAL OF MEDICAL GENETICS | 2013年 / 50卷 / 11期

关键词：

hepatocellular carcinoma; cirrhosis; Ferredoxin; Arab; GWAS; HEPATOCELLULAR-CARCINOMA; ELECTRON-TRANSFER; SUSCEPTIBILITY; VARIANTS; LOCUS; POLYMORPHISMS; CLEARANCE; OUTCOMES; THERAPY; MARKERS;

D O I：

10.1136/jmedgenet-2013-101724

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 16kb 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.

引用

页码：725 / 732

页数：8

共 36 条

[1] Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma [J].