α-1-抗胰蛋白酶缺乏和吸烟是错配修复缺陷型结直肠癌的危险因素：来自结肠癌家族登记处的一项研究。
Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry.
机构信息
Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
出版信息
Mol Genet Metab. 2010 Feb;99(2):157-9. doi: 10.1016/j.ymgme.2009.09.010. Epub 2009 Sep 27.
Abstract
In a previous study, alpha-1-antitrypsin (A1AT) deficiency alleles were found to be over represented among individuals with microsatellite unstable (MSI-high) colorectal cancers, and this was most significant in former or current smokers. We evaluated this association in a larger case-control study, stratified by microsatellite instability phenotypes. Concordant with prior observations, gender (female) and smoking history were positively associated with colorectal cancers having an MSI-high phenotype. No difference in frequency of A1AT deficiency alleles was found between cases and controls, irrespective of the MSI subtype.
摘要
在之前的研究中，α-1-抗胰蛋白酶（A1AT）缺乏等位基因在微卫星不稳定（MSI-高）结直肠癌患者中过度表达，在既往或当前吸烟者中更为显著。我们在一项更大的病例对照研究中，按微卫星不稳定性表型进行分层，评估了这种相关性。与先前的观察结果一致，性别（女性）和吸烟史与 MSI-高表型的结直肠癌呈正相关。无论 MSI 亚型如何，病例组和对照组之间 A1AT 缺乏等位基因的频率均无差异。
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