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        Association between PNPLA3 rs738409 polymorphism and hepatocellular carcinoma risk: an updated meta-analysis

        Li Zhang,Chuanmiao Liu,Kuihua Xu,Jiasheng Chen 한국유전학회 2016 Genes & Genomics Vol.38 No.9

        Hepatocellular carcinoma (HCC) is a common malignant tumor and the leading cause of cancer-related death worldwide. The protein encoded by patatin-like phospholipase domain-containing protein 3 (PNPLA3) plays important roles in liver fatty metabolism. Recent studies have indicated associations of PNPLA3 rs738409 with various liver diseases, including HCC. This metaanalysis was performed to investigate and update the association between rs738409 polymorphism and the risk of HCC, and to test the association between rs738409 and HCC specifically in patients within chronic hepatitis B and/ or C infection, alcoholic liver disease, or other diseases. Studies were searched from the literature database up to March 31, 2016. The meta-analysis was conducted based on statement of preferred reporting items for systematic reviews and meta-analyses. Pooled odds ratios (OR) and 95 % confidence intervals (CI) were estimated the strength of associations between rs738409 polymorphism and HCC risk. Fifteen published studies, consisting of 2264 HCC patients (case) and 5802 without HCC individuals (control), were included in the present study. Meta-analysis revealed that rs738409 polymorphism contributed to HCC risk under the allelic effect model (C vs. G: OR 1.73; 95 % CI 1.53–1.96), the dominant effect model (CC vs. CG?GG: OR 1.61; 95 % CI 1.44–1.81), and the recessive effect model (CC?CG vs. GG: OR 2.66; 95 % CI 2.28–3.11). Furthermore, the effect of rs738409 G allele on liver oncogenesis was higher in alcoholic liver disease (OR 2.55), compared to chronic hepatitis C/B (OR 1.32) and other diseases (OR 2.27). The results suggested that rs738409 polymorphism was significantly associated with HCC risk and it could be used as one risk factor for HCC.

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        Association between STAT4 polymorphisms and risk of primary biliary cholangitis: a meta-analysis

        Li Zhang,Chunming Gao,Chuanmiao Liu,Jiasheng Chen,Kuihua Xu 한국유전학회 2018 Genes & Genomics Vol.40 No.10

        Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease. Several studies reported that SATA4 (signal transducer and activator of transcription 4) polymorphisms were significantly associated with PBC susceptibility. In order to derive a more comprehensive estimation of the association between STAT4 and PBC risk, this meta-analysis was conducted. Thirteen eligible studies from 8 articles with a total number of 11,310 cases and 27,844 controls were included in this meta-analysis. Pooled odds ratios (OR) and 95% confidence intervals (CI) were estimated with fixed effects model or random effects model. The results showed statistically significant association between polymorphisms of rs7574865, rs3024921, rs6752770, rs7601754 and rs10168266 in STAT4 and PBC risk under the allelic effect model (rs7574865, T vs. G, OR = 1.24, 95% CI 1.14–1.35; rs3024921, T vs. A, OR = 1.65, 95% CI 1.44–1.91; rs6752770, G vs. A, OR = 1.24, 95% CI 1.11–1.39; rs7601754, A vs. G, OR = 1.35, 95% CI 1.17–1.55; and rs10168266, T vs. C, OR = 1.31, 95% CI 1.22–1.41). Furthermore, the rs7574865 polymorphism was significantly associated with PBC risk under all genotype genetic models (dominant effect model: TT + TG vs. GG, OR = 1.43, 95% CI 1.19–1.71; recessive effect: TT vs. TG + GG, OR = 1.40, 95% CI 1.24–1.58; and co-dominant effect: TT vs. GG, OR = 1.67, 95% CI 1.37–2.02). The sensitivity analysis by omitting one study at a time showed that the results were stable. No publication bias was indicated from both Begg’s test and Egger’s weighted regression. This meta-analysis suggested that polymorphisms of rs7574865, rs3024921, rs6752770, rs7601754 and rs10168266 in STAT4 were significantly associated with the risk of PBC.

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