Ji Aifang, Wang Jinsheng, Yang Jianzhou, Wei Zibai, Lian Changhong, Ma Liang, Ma Li, Chen Jinjing, Qin Xiaoqi, Wang Li dong, Wei Wu
Changzhi Medical University, Changzhi, China.
Asian Pac J Cancer Prev. 2011;12(12):3207-12.
C20orf54, also known as a human riboflavin transporter 2 (RFT2), encodes an open reading frame protein RFT2 newly identified to play an important role in esophageal carcinogenesis by modulating riboflavin uptake. Missense cSNPs on exon 3,1172 C>A (T391M) and 1246A>G (I416V) have been suggested to modulate protein expression. The aim of present study was to explore the association of C20orf54 functional SNPs with susceptibility to esophageal squamous cell carcinoma (ESCC) in a northern Chinese population.
240 patients with ESCC and 198 healthy individuals without overt cancer were chosen as our experimental subjects. Information about family address, sex, age, BMI, smoking and drinking habits and family history of cancer were collected. Blood samples were taken from all subjects and tumor tissues were freshly sampled from resected specimens. After DNA was extracted and amplified, the C20orf54 SNPs were sequenced by ABI 3730XL in BGI China. Frequencies were then calculated and associated with the collected suspicous risk factors.
Drinking status, a family history of ESCC, blood type and BMI were found to have great influence on the risk of developing ESCC. Overall genotype frequencies of the RFT2 SNP 1172 C>A (rs3746803) and 1246A>G (rs3746802) in ESCC patients are significantly different from that in healthy controls (x2=13.10, P=0.001 and x2=7.97, P=0.019, respectively). For RFT2 rs3746803, C/T+T/T genotype did not show a relationship with the risk of ESCC (the age and gender adjusted OR=0.66, 95% CI=0.41-1.05) when using C/C genotype as the reference. For RFT2 rs3746802, the A/G +G/G genotype demonstrated a significantly decreased risk to the development of ESCC (the age and sex adjusted OR=0.53, 95% CI=0.34-0.84) with A/A as the reference.
The present study suggests that the C20orf54 functional SNPs might be associated with a risk of ESCC development.
C20orf54，也被称为人核黄素转运蛋白2（RFT2），编码一种新发现的开放阅读框蛋白RFT2，它通过调节核黄素摄取在食管癌发生过程中发挥重要作用。外显子3上的错义cSNP，1172C>A（T391M）和1246A>G（I416V），被认为可调节蛋白表达。本研究的目的是在中国北方人群中探索C20orf54功能性单核苷酸多态性（SNP）与食管鳞状细胞癌（ESCC）易感性之间的关联。
选取240例ESCC患者和198例无明显癌症的健康个体作为实验对象。收集有关家庭住址、性别、年龄、体重指数、吸烟和饮酒习惯以及癌症家族史的信息。采集所有受试者的血液样本，并从切除标本中新鲜采集肿瘤组织。提取并扩增DNA后，在中国华大基因通过ABI 3730XL对C20orf54 SNP进行测序。然后计算频率，并与收集到的可疑风险因素相关联。
饮酒状况、ESCC家族史、血型和体重指数被发现对患ESCC的风险有很大影响。ESCC患者中RFT2 SNP 1172C>A（rs3746803）和1246A>G（rs3746802）的总体基因型频率与健康对照者显著不同（分别为x2=13.10，P=0.001和x2=7.97，P=0.019）。对于RFT2 rs3746803，以C/C基因型为参照时，C/T+T/T基因型与ESCC风险无相关性（年龄和性别校正后的比值比=0.66，95%置信区间=0.41-1.05）。对于RFT2 rs3746802，以A/A为参照时，A/G +G/G基因型显示ESCC发生风险显著降低（年龄和性别校正后的比值比=0.53，95%置信区间=0.34-0.84）。
本研究表明C20orf54功能性SNP可能与ESCC发生风险相关。
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