Genetic variants in STAT3 are associated with nonalcoholic fatty liver disease
Genetic variants in STAT3 are associated with nonalcoholic fatty liver disease
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DOI：
10.1016/j.cyto.2008.08.001
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发表时间：
2008-10-01
期刊：
影响因子：
3.8
通讯作者：
Jose Pirola, Carlos
中科院分区：
文献类型：
--
作者：
Sookoian, Silvia;Castano, Gustavo;Jose Pirola, Carlos
目的：探讨STAT3转录因子基因变异和衍生单倍型在非酒精性脂肪性肝病(NAFLD)中的作用及其与临床病情的关系。患者和方法：108名NAFLD患者和不同临床疾病严重程度的患者，以及55名健康人参加了一项以医院为基础的研究。我们选择了3个等位基因频率为10%(rs2293152 C/G、rs6503695 C/T和rs9891119 A/C)的标签SNPs，总长度为68.55kb，代表了17号染色体上的24个多态位点(r(2)>；0.8)。结果：单因素分析显示，rs6503695和rs9891119等位基因频率在正常人群和非酒精性脂肪肝患者之间差异有统计学意义(经验P值分别为0.021和0.020)。多标记分析结果显示，Tag SNPs rs6503695、rs9891119的单倍型TA和CC与非酒精性脂肪肝显著相关(经验P值分别为0.035和0.015)。当我们用多项式分析检验基因变异与NAFLD临床和组织学谱之间关系的假设时，发现rs9891119与NAFLD显著相关(P=0.02)。结论：我们的研究提示STAT3基因及其单倍型在NAFLD的易感性和疾病严重程度中具有潜在的作用。(C)2008爱思唯尔有限公司。保留所有权利。
Aims: To investigate the role of gene variants and derived haplotypes of the STAT3 transcription factor in nonalcoholic fatty liver disease (NAFLD) and their relation with the clinical disease severity. Patients and methods: 108 patients with NAFLD and different stages of clinical disease severity, and a group of 55 healthy individuals were included in a Hospital-based study. We selected 3 tagSNPs showing a minor allele frequency >10% (rs2293152 C/G, rs6503695 C/T, and rs9891119 A/C) encompassing 68.55 kb in chromosome 17, representing 24 polymorphic sites (r(2) > 0.8). Results: In univariate analysis, there were significant differences in the allele frequency of the rs6503695 and rs9891119 between the healthy individuals and NAFLD patients (empiric P = 0.021 and 0.020, respectively). The test results for the multimarker analysis showed that haplotypes TA and CC of tagSNPs rs6503695, rs9891119 were significantly associated with NAFLD (empiric P = 0.035 and 0.015, respectively). When we tested the hypothesis of a relation between the gene variants and the clinical and histological spectrum of NAFLD by multinomial analysis, a significant association was observed with rs9891119 (P = 0.02). Conclusions: Our study suggests a potential role of the STAT3 polymorphisms and their haplotypes in susceptibility to NAFLD and disease severity. (C) 2008 Elsevier Ltd. All rights reserved.