Association between aurora-a kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population
Association between aurora-a kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population
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DOI：
10.1002/mc.20283
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发表时间：
2007-04-01
影响因子：
4.6
通讯作者：
Frazier, Marsha L.
中科院分区：
文献类型：
--
作者：
Chen, Jinyun;Sen, Subrata;Frazier, Marsha L.
Aurora-A激酶被认为是一种潜在的癌症易感基因，它编码一种中心体相关的、细胞周期调节的丝氨酸/苏氨酸激酶。我们研究了Aurora-A编码区的两个单核苷酸多态(SNP)，91T-to-A(F31I)和169G-to-A(V57I)。我们研究了这两个基因多态性对遗传性非息肉病性结直肠癌(HNPCC)发病年龄的影响。采用实时焦磷酸DNA测序技术对125例存在错配修复(MMR)基因突变的高加索人群Aurora-A基因进行了基因分型。对于91T-to-A多态，我们发现野生型等位基因纯合子的HNPCC患者比突变等位基因纯合子或杂合子的患者患结直肠癌(CRC)早7年。169G-to-A多态对HNPCC的风险没有显著影响。然而，当我们对这两个多态进行单倍型分析时，91a-169G单倍型与较早的HNPCC保护性相关。(C)2007年Wiley-Liss，Inc.
Aurora-A kinase is considered a potential cancer susceptibility gene that encodes a centrosome-associated, cell cycle-regulated serine/threonine kinase. We studied two single nucleoticle polymorphisms (SNP) in the coding region of Aurora-A, 91T-to-A (F31I) and 169G-to-A (V57I). We studied the influence of these two polymorphisms on age of onset of hereditary nonpolyposis colorectal cancer (HNPCC). Genotyping of the Aurora-A polymorphisms was carried out on 125 Caucasian with mismatch repair (MMR) gene mutations with real-time pyrophosphate DNA sequencing. For the 91T-to-A polymorphism, we found that patients with HNPCC who were homozygous for the wild-type allele developed colorectal cancer (CRC) 7 years earlier than patients who were homozygous or heterozygous for the mutant allele. The169G-to-A polymorphism did not have a significant influence on risk for HNPCC. However, when we did haplotype analysis for these two polymorphisms, the 91A-169G haplotype was associated with protection from HNPCC at an earlier age. (c) 2007 Wiley-Liss, Inc.