Department of Pathology, No. 113 Hospital of People's Liberation Army, Ningbo, PR China.
Oncology. 2010;78(5-6):382-8. doi: 10.1159/000320521. Epub 2010 Aug 27.
Although signal transducer and activator of transcription 1 (STAT1), a transcription factor, plays a critical role in carcinogenesis and has been implicated as a tumor suppressor, few studies have investigated the associations between polymorphisms of this gene and the risk of cancer development. The aim of this study was to examine whether STAT1 gene polymorphisms are associated with the risk of hepatocellular carcinoma (HCC).
Ten single nucleotide polymorphisms in the STAT1 gene were genotyped by TaqMan assays in 469 HCC cases and 558 age-, sex- and HBsAg-matched controls in a Chinese population.
Minor allele homozygous genotypes at rs867637 (9,046 bp 3' of STP A>G), rs3771300 (IVS24-153T>G), and rs2280235 (IVS20-103G>A), compared with their homozygote genotypes of common alleles, were associated with 1.6- (95% CI 1.1-2.3), 1.6- (95% CI 1.1-2.4), and 1.4-fold (95% CI 0.95-1.9) increased risk of HCC, respectively. The GGA haplotype, comprised of risk alleles at rs867637, rs3771300 and rs2280235, conferred a 1.2-fold (95% CI 1.0-1.5) increased risk of HCC, as compared to the most common haplotype of ATG. Diplotype GGA/GGA conferred a 1.6-fold (95% CI 1.0-2.5) increased risk of HCC compared with diplotype ATG/ATG.
Our results demonstrate for the first time that polymorphisms in the STAT1 gene are associated with HCC susceptibility.
信号转导子和转录激活子 1（STAT1）是一种转录因子，在致癌作用中发挥关键作用，并被认为是一种肿瘤抑制因子，但很少有研究探讨该基因的多态性与癌症发展风险之间的关系。本研究旨在探讨 STAT1 基因多态性是否与肝细胞癌（HCC）的发病风险相关。
在中国人群中，采用 TaqMan 法对 469 例 HCC 病例和 558 例年龄、性别和 HBsAg 匹配的对照者的 STAT1 基因中的 10 个单核苷酸多态性进行基因分型。
与常见等位基因的纯合基因型相比，rs867637（3'端的 STP A>G，9046 bp）、rs3771300（IVS24-153T>G）和 rs2280235（IVS20-103G>A）的次要等位基因纯合基因型与 HCC 的风险分别增加 1.6 倍（95%CI 1.1-2.3）、1.6 倍（95%CI 1.1-2.4）和 1.4 倍（95%CI 0.95-1.9）。由 rs867637、rs3771300 和 rs2280235 风险等位基因组成的 GGA 单倍型与最常见的 ATG 单倍型相比，患 HCC 的风险增加 1.2 倍（95%CI 1.0-1.5）。与 GGA/GGA 双等位基因相比，ATG/ATG 双等位基因患 HCC 的风险增加 1.6 倍（95%CI 1.0-2.5）。
本研究首次表明，STAT1 基因多态性与 HCC 易感性相关。
