Background: Persistent infection with hepatitis C virus (HCV) leads to live
r cirrhosis (LC) and often to Liver cancer. Little is known about host fact
ors that determine the variable natural history. Mannose-binding lectin (MB
L) is an important constituent of the innate immune system. In white patien
ts there is an association between codon 52 mutation of the MBL gene and pe
rsistent hepatitis B virus (HBV) infection. To determine whether MBL gene p
olymorphisms affect the course of HCV infection, we investigated the associ
ation between MBL gene polymorphisms and HCV infection in Japanese subjects
. Methods: Fifty-two HCV-infected Japanese patients (8 with chronic inactiv
e hepatitis (CIH), 31 with chronic active hepatitis (CAH), 13 with LC) and
50 normal controls were studied. MBL gene mutations were determined by mean
s of polymerase chain reaction and restriction fragment length polymorphism
analyses. Results: Codon 52 and codon 57 mutations were absent in all subj
ects. Homozygous mutation in codon 54 was present in one (0.9%) patient. He
terozygous codon 54 mutation was present in 17 (32%) of the 52 patients and
in 21 (41%) of the controls. No significant difference in the frequency of
codon 54 mutation was observed between patient and control groups. However
, although no significant relationship was observed between MBL polymorphis
ms and the levels of HCV RNA, all patients with heterozygous or homozygous
codon 54 mutations had CAH or LC. In contrast, 8 of the 34 patients without
codon 54 mutation remained at CIH. (P = 0.0405). Conclusion: MBL may be on
e of the factors that influence the course of HCV infection.