目的 探討亞甲基四氫葉酸還原酶（MTHFR）C677T與A1298C基因多態(tài)性在卡培他濱治療中晚期結(jié)直腸癌（CRC）患者的安全性及有效性，為臨床診治CRC提供理論依據(jù)。方法 收集經(jīng)病理診斷確診的中晚期結(jié)直腸癌患者50例，用實(shí)時(shí)熒光定量PCR儀進(jìn)行MTHFR C677T與A1298C基因多態(tài)性檢測，觀察不同基因型之間安全性及有效性的差異。結(jié)果 MTHFR C677T的CC、CT、TT基因型頻率分別為46%、40%、14%，TT基因型惡心嘔吐的發(fā)生率及有效率高于CC與CT基因型，差別具有統(tǒng)計(jì)學(xué)意義（P<0.05）。MTHFR A1298C的AA、AC、CC基因型頻率分別為60%、34%、6%，CC基因型腹瀉發(fā)生率高于AA與AC基因型，差別具有統(tǒng)計(jì)學(xué)意義（P<0.05），MTHFR A1298 C中各基因型有效率差異無統(tǒng)計(jì)學(xué)意義。結(jié)論 MTHFR C677T與MTHFR A1298C基因多態(tài)性在卡培他濱治療CRC患者具有較好的臨床意義，但MTHFR A1298C與藥物治療有效率無關(guān)。

Objective To investigate the safety and efficacy of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in advanced colorectal cancer patients treated by capecitabine. Methods Fifty patients with advanced colorectal cancer diagnosed by pathology were collected. The MTHFR C677T and A1298C polymorphisms were detected by real-time fluorescence quantitative PCR, and the differences in safety and efficacy between different genotypes were observed. Results The frequency of CC, CT and TT genotypes of MTHFR C677T were 46%, 40% and 14% respectively. The incidence of nausea and vomiting and effective rate of TT genotype were higher than those of genotype CC and CT (P<0.05).The frequencies of AA, AC and CC genotypes in MTHFR A1298C were 60%, 34% and 6%, respectively. The incidence of diarrhea in CC genotype was higher than that in AA and AC genotype (P<0.05). There was no significant difference in the genotype efficiency between MTHFR A1298 C genotypes. Conclusion MTHFR C677T and MTHFR A1298C polymorphisms in capecitabine treatment of CRC patients with good clinical significance, but there was no correlation between MTHFR A1298C and capecitabine treatment efficiency.