Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population
Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population
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中国人群MSH2基因7号外显子变异与胃肠癌易感性
DOI：
10.1016/j.cancergencyto.2006.05.010
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发表时间：
2006-10-15
影响因子：
--
通讯作者：
Wang, Yaping
中科院分区：
文献类型：
--
作者：
Fan, Yimei;Liu, Xiaorong;Wang, Yaping
应用表皮学、结构学和生物信息学分析对中国187例疑似遗传性胃肠道癌患者的MSH2和MLH1基因变异进行了评估。在MSH2基因的外显子7中观察到变异频率增加；结直肠癌（CRC）组（6/82,7.32%）、胃癌（GC）组（8/105,7.62%）与对照组（1/112,0.89%）比较，差异有统计学意义（P < 0.05）。CRC的比值比（OR）为8.76，GC的比值比为9.15，表明MSH2基因外显子7变异的存在与研究人群中胃肠道癌的风险之间存在关联。此外，MSH2 1168T在年轻（< 50岁）散发性疾病患者中显示与CRC和GC相关的趋势（OR分别为10.97和17.15）。MSH2外显子7中的c. 1168C > T （p.l u390phe）、c. 1255C > A （p.l n419lys）和c. 1221c > A （p.l u421 Met）和3中的c. 518t b> G （p.l u173arg）被怀疑是胃肠道癌症的易感性。c.1221C . > G （p.Leu407Leu）和c.1223A . > G （p.Tyr408Cys）在MSH2和c.655中的变异MLH1中的A > G （p.Ile219 Val）和c.927C > T （p.Pro309Pro）可能仅仅是多态性。在MLH1中c.2101C >a （p.Gln701Lys）变异的后果仍有待阐明。(c) 2006爱思唯尔公司版权所有。
Epidermologic, structural, and bioinformatic analyses were used to evaluate variants in the MSH2 and MLH1 genes in 187 subjects with suspected hereditary gastrointestinal cancer in China. An increased frequency of variants was observed in exon 7 of the MSH2 gene; there was a statistical difference (P < 0.05) between the colorectal cancer (CRC) group (6/82, or 7.32%) or the gastric cancer (GC) group (8/105, or 7.62%) and the controls (1/112, or 0.89%). The odds ratio (OR) was 8.76 for CRC and 9.15 for GC, suggesting an association between the presence of variants in exon 7 of the MSH2 gene and risk of gastrointestinal cancer in the studied population. In addition, MSH2 1168T showed trends toward association with CRC and GC in young (< 50 yr) sporadic disease patients (OR = 10.97 and 17.15, respectively). The c. 1168C > T (p.Leu390Phe), c. 1255C > A (p.Gln419Lys), and c. 126 1 C > A (p.Leu421 Met) in exon 7 and c.518T > G (p.Leu 173Arg) in exon 3 of MSH2 were suspected as predisposing to gastrointestinal cancer. Variants c.505A > G (p.Ilel69Val), c.1221C > G (p.Leu407Leu) and c.1223A > G (p.Tyr408Cys) in MSH2 and c.655 A > G (p.Ile219 Val) and c.927C > T (p.Pro309Pro) in MLH1 might be merely polymorphisms. Consequences of the variant c.2101C > A (p.Gln701Lys) in MLH1 remain to be elucidated. (c) 2006 Elsevier Inc. All rights reserved.