JAK1 gene polymorphisms are associated with the outcomes of hepatitis B virus infection, but not with α interferon therapy response in a Han Chinese population.
OBJECTIVE
Janus kinase 1 (JAK1) is a key member in the interferon (IFN) signaling pathway. Recent studies suggested single-nucleotide polymorphisms (SNPs) in IFN pathway genes are associated with outcomes of hepatitis B virus (HBV) infection and response to IFNα therapy. The aim of the study is to investigate whether SNPs in JAK1 were associated with outcomes of HBV infection and response to IFNα therapy.


METHODS
We enrolled 395 chronic hepatitis B (CHB) patients and 251 subjects with the inactive carrier state, and 256 CHB patients who received IFNα treatment, with therapy efficacy evaluated. Twelve SNPs: rs310227, rs7531799, rs7546545, rs17127174, rs3790541, rs10493373, rs2780898, rs310247, rs310196, rs2780895, rs4244165, and rs17127024 in JAK1, which could represent all SNPs with minor allele frequency >0.2 recorded in the HapMap database were genotyped using a polymerase chain reaction-restriction fragment length polymorphism protocol and the TaqMan method.


RESULTS
SNP rs17127024 was associated with outcomes of HBV infection in an allele frequency (p=0.014) and genotype distributions (p=0.031), while SNP rs4244165 was associated with outcomes of HBV infection only in genotype distributions (p=0.008). There were no significant differences in allele frequencies and genotype distributions of these SNPs between the response group and the nonresponse group to IFNα therapy.


CONCLUSIONS
SNPs rs4244165 and rs17127024 in JAK1 were associated with outcomes of HBV infection, but not with response to IFNα therapy.
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, P.R. China.
Kangmei
K
Chen
Hanyi
H
Min
Xiaopan
X
Wu
Xilin
X
Zhu
Zhuo
Z
Li
Hui
H
Li
Ying
Y
Liu
D000328:Adult; D000998:Antiviral Agents / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006515:Hepatitis B virus / Q000187:drug effects*; D019694:Hepatitis B, Chronic / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D016898:Interferon-alpha / Q000627:therapeutic use; D053613:Janus Kinase 1 / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D016896:Treatment Outcome; D055815:Young Adult
D000998:Antiviral Agents; D016898:Interferon-alpha; C507904:JAK1 protein, human; D053613:Janus Kinase 1