印度北部 p53 基因多态性与膀胱癌易感性的关系。
Role of p53 gene polymorphism and bladder cancer predisposition in northern India.
机构信息
Department of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Uttar Pradesh, India.
出版信息
Cancer Biomark. 2010;8(1):21-8. doi: 10.3233/DMA-2011-0816.
p53 is a major orchestrator of cellular response to a broad array of stress types by regulating apoptosis, cell cycle arrest, etc. A few polymorphic sites, one at codon72 of exon4, intron3 16bpdel/ins, intron6G>A have been studied with regard to Bladder cancer (BC) risk in North Indians. Genotypes were assessed in hospital-based case-control study comprising of 200BC cases, 265healthy controls. After extraction of genomic DNA from blood, genotyping was done using PCR Restriction Fragment Length Polymorphism. Individuals with p53R72P G>C, CC genotype demonstrated marginally reduced risk of BC (p=0.053, OR=0.29, 95% 16bp-ins/del.
p53 是细胞对广泛类型的应激反应的主要协调者，通过调节细胞凋亡、细胞周期停滞等。已经研究了一些多态性位点，一个位于外显子 4 的密码子 72 处，内含子 3 的 16bp 缺失/插入，内含子 6 的 G>A，与北印度人的膀胱癌 (BC) 风险有关。在包括 200 例 BC 病例和 265 例健康对照的基于医院的病例对照研究中评估了基因型。从血液中提取基因组 DNA 后，使用 PCR 限制性片段长度多态性进行基因分型。p53R72P G>C、CC 基因型的个体患 BC 的风险略有降低（p=0.053，OR=0.29，95%置信区间为 0.16bp-ins/del。
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