Published in:
01-09-2011 | Original Article
Genetic Analysis of Complement Component 9 (C9) Polymorphisms with Clearance of Hepatitis B Virus Infection
Authors:
Joon Seol Bae, Charisse Flerida A. Pasaje, Byung Lae Park, Hyun Sub Cheong, Jeong-Hyun Kim, Tae Joon Park, Jason Yongha Kim, Jin Sol Lee, In Song Koh, Hyo-Suk Lee, Yoon Jun Kim, Hyoung Doo Shin
Published in:
Digestive Diseases and Sciences
|
Issue 9/2011
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Abstract
Background
The complement component 9 (C9), a major cytolytic protein in the complement system, plays an important role in the immunological process. However, associations between genetic variations of the complement factor and chronic hepatitis B virus infection still need to be investigated.
Aims
We hypothesized that genetic variations in the complement component 9 gene can influence the clearance of chronic hepatitis B virus infection, hepatocellular carcinoma occurrence, and onset age of hepatocellular carcinoma. To investigate the relationship between complement component 9 variations and these disease phenotypes, we performed a case–control association analysis in a Korean population.
Methods
Genetic variations were identified through direct DNA sequencing and genotyped using TaqMan assay (n = 1,103). In order to investigate the relationship of complement component 9 with chronic hepatitis B virus clearance and hepatocellular carcinoma occurrence, differences in SNP and haplotype frequency distributions were analyzed using logistic and multiple regression analyses with adjusted age and gender as covariates.
Results
Although +23189C>T polymorphism in exon 4 and C9_ht2 [T-G-C-A-C] were significantly associated with clearance of chronic hepatitis B virus infection and hepatocellular carcinoma occurrence, the association signals were not retained after multiple testing corrections.
Conclusions
We conclude that variations in the complement component 9 gene are unlikely to influence clearance of chronic hepatitis B virus infection and hepatocellular carcinoma occurrence. Although this preliminary result provides meaningful information, further functional investigations in other genetic factors for pathway analyses are required.