Wang Qi, Chen Ping, Chen Dafang, Liu Fanlong, Pan Weihuo
Sir Run Run Shaw Institute of Clinical Medicine of Zhejiang University, Hangzhou, Zhejiang Province, China.
J Int Med Res. 2014 Apr;42(2):270-81. doi: 10.1177/0300060513492484. Epub 2014 Feb 4.
To investigate the association between a single nucleotide polymorphism rs2274223 (adenine [A] to guanine [G]) in the phospholipase C epsilon 1 (PLCE1) gene and susceptibility to colorectal cancer (CRC).
The PLCE1 rs2274223 polymorphism was genotyped in patients with CRC and age- and sex-matched cancer-free control subjects from a Chinese population in a case-control study. PLCE1 mRNA levels in pair-matched tumour and adjacent noncancerous tissue were evaluated by real-time quantitative reverse transcription-polymerase chain reaction.
A total of 417 patients with CRC and 416 control subjects were enrolled in the study. The AG and GG genotypes of PLCE1 rs2274223 were associated with a significantly increased risk of CRC (for AG + GG versus AA: adjusted odds ratio 1.52, 95% confidence interval 1.15, 2.00). PLCE1 mRNA levels were significantly lower in tumours than in adjacent noncancerous tissue. Lower levels of PLCE1 mRNA were observed in both AG and GG genotype carriers compared with the AA genotype carriers.
These results indicate that the PLCE1 rs2274223 A > G change might reduce gene expression and that the variant G genotype might contribute to the increased risk of CRC.
研究磷脂酶Cε1（PLCE1）基因单核苷酸多态性rs2274223（腺嘌呤[A]突变为鸟嘌呤[G]）与结直肠癌（CRC）易感性之间的关联。
在一项病例对照研究中，对来自中国人群的CRC患者以及年龄和性别匹配的无癌对照者进行PLCE1 rs2274223多态性基因分型。通过实时定量逆转录-聚合酶链反应评估配对的肿瘤组织和相邻非癌组织中PLCE1 mRNA水平。
共有417例CRC患者和416例对照者纳入本研究。PLCE1 rs2274223的AG和GG基因型与CRC风险显著增加相关（AG + GG与AA相比：校正比值比1.52，95%置信区间1.15，2.00）。肿瘤组织中PLCE1 mRNA水平显著低于相邻非癌组织。与AA基因型携带者相比，AG和GG基因型携带者中PLCE1 mRNA水平均较低。
这些结果表明PLCE1 rs2274223的A>G改变可能会降低基因表达，且变异的G基因型可能会增加CRC风险。
