中国汉族人群中PNPLA3基因多态性与乙型肝炎病毒相关肝细胞癌风险的关联：一项病例对照研究
Association between PNPLA3 gene polymorphisms and risk of hepatitis B virus-related hepatocellular carcinoma in Han population in China:a case-control study.
作者信息
Gao Xia, Liu Wenxuan, Yang Lei, Zhang Xiaolin, Ma Ning, Wang Liqin, Yan Lina, Tang Longmei, Yang Haitao, Liu Dianwu
机构信息
a Department of Epidemiology and Statistics, School of Public Health , Hebei Medical University , Shi Jiazhuang , China.
b Department of Social Medicine and Health Care Management, School of Public Health , Hebei Medical University , Shi Jiazhuang , China.
出版信息
Scand J Gastroenterol. 2017 Oct;52(10):1120-1127. doi: 10.1080/00365521.2017.1334088. Epub 2017 Jun 15.
BACKGROUND AND AIM
Several recent studies showed that the genetic polymorphisms in the PNPLA3 region (rs738408, rs738409, rs2294918, rs2294919 and rs2281135) were with related to various kinds of liver diseases. We analyzed the five single-nucleotide polymorphisms (SNPs) for major HBV outcomes in Han Chinese.
METHODS
A total of 2410 samples were involved and peripheral blood samples were collected in this study. The SNPs in the PNPLA3 region were genotyped by using Matrix-assisted laser desorption/ionization time of flight mass spectrometry.
RESULTS
Our study indicated the clear relationship between the PNPLA3 rs2294918, rs2294919 and HBV-related HCC after control for the effects of sex, drinking and smoking. Health subjects with the PNPLA3 rs2294919 TC genotype would have a 0.605 (95% CI: 0.413, 0.886; p = .010) times lower odds of having HCC, and those with the rs2294918 AG genotype would have a 1.872 (95% CI: 1.256, 2.792; p = .002) times higher odds of having HCC, whereas the values of sex, age, drinking and smoking were fixed. In addition, CA haplotype of the haplotype block of rs738409 and rs2281135 was also associated with HBV-related HCC.
CONCLUSIONS
Our study suggested that PNPLA3 loci (rs2294918, rs2294919) were associated with HBV-related HCC in Han Chinese.
背景与目的
近期多项研究表明，PNPLA3区域的基因多态性（rs738408、rs738409、rs2294918、rs2294919和rs2281135）与多种肝脏疾病相关。我们分析了这五个单核苷酸多态性（SNP）与中国汉族人群主要HBV相关结局的关系。
方法
本研究共纳入2410份样本，并采集外周血样本。采用基质辅助激光解吸/电离飞行时间质谱法对PNPLA3区域的SNP进行基因分型。
结果
在控制性别、饮酒和吸烟的影响后，我们的研究表明PNPLA3的rs2294918、rs2294919与HBV相关的肝癌之间存在明确关联。携带PNPLA3 rs2294919 TC基因型的健康受试者发生肝癌的几率降低0.605倍（95%置信区间：0.413, 0.886；p = .010），而携带rs2294918 AG基因型的受试者发生肝癌的几率则高出1.872倍（95%置信区间：1.256, 2.792；p = .002），此时性别、年龄、饮酒和吸烟的值保持不变。此外，rs738409和rs2281135单倍型块的CA单倍型也与HBV相关的肝癌有关。
结论
我们的研究表明，PNPLA3基因座（rs2294918、rs2294919）与中国汉族人群中HBV相关的肝癌有关。
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