Dai Zhi-Jun, Liu Xing-Han, Kang Hua-Feng, Wang Xi-Jing, Jin Tian-Bo, Zhang Shu-Qun, Feng Tian, Ma Xiao-Bin, Wang Meng, Feng Yan-Jing, Liu Kang, Xu Peng, Guan Hai-Tao
From the Department of Oncology, Second Affiliated Hospital of Xi'an Jiaotong University (Z-JD, X-HL, H-FK, X-JW, S-QZ, X-BM, MW, Y-JF, KL, PX, H-TG); and National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University (T-BJ, TF), Xi'an, China.
Medicine (Baltimore). 2016 Feb;95(6):e2801. doi: 10.1097/MD.0000000000002801.
Metastasis-associated in colon cancer-1 (MACC1), a newly identified oncogene, is involved in angiogenesis, invasiveness, and metastasis in many cancers. Epidemiological studies have indicated the associations between MACC1 polymorphisms and cancer risk. However, the association between genetic polymorphisms in MACC1 and breast cancer (BC) was not clear. This study aimed to evaluate the relationship between MACC1 polymorphisms and BC risk.We genotyped 4 single-nucleotide polymorphisms (SNPs) in MACC1 (rs975263, rs1990172, rs3735615, rs4721888) to determine the haplotypes in 560 BC patients and 583 age-, sex-, and ethnicity-matched healthy individuals. Genotypes were determined using the Sequenom MassARRAY method. We estimated the odds ratios (ORs) and 95% confidence intervals (95% CIs) using the chi-square test.There were significant differences between patients and controls in the MACC1 rs975263 allelic (T vs C: OR = 0.76, 95% CI = 0.61-0.95, P = 0.014) and genotypic groups (TC vs TT: OR = 0.70, 95% CI = 0.54-0.92, P = 0.009; TC+CC vs TT: OR = 0.71, 95% CI = 0.55-0.92, P = 0.008). Analysis of clinical features demonstrated significant associations between rs975263 and Scarff-Bloom-Richardson (SBR) grade 3 cancer (P = 0.006) and postmenopausal women (P = 0.018). Compared with the rs4721888 CC genotype, the frequency of rs4721888 GC and GC+CC variants was higher in patients. Further analysis revealed that the variant genotypes were positively associated with lymph node metastasis. However, we failed to find any relationships between rs1990172 or rs3735615 polymorphism and BC risk. In addition, haplotype analysis indicated that the CTGG and CTCG haplotypes (rs975263, rs1990172, rs3735615, rs4721888) were significantly associated with decreased susceptibility to BC (P = 0.029 and 0.019 respectively).Our results suggest that rs975263 and rs4721888 polymorphisms in MACC1 are associated with the risk of BC susceptibility and may be involved in the progression of BC in Chinese women.
结肠癌转移相关蛋白1（MACC1）是一种新发现的致癌基因，参与多种癌症的血管生成、侵袭和转移过程。流行病学研究表明MACC1基因多态性与癌症风险之间存在关联。然而，MACC1基因多态性与乳腺癌（BC）之间的关联尚不清楚。本研究旨在评估MACC1基因多态性与BC风险之间的关系。我们对MACC1基因中的4个单核苷酸多态性（SNP）（rs975263、rs1990172、rs3735615、rs4721888）进行基因分型，以确定560例BC患者和583例年龄、性别和种族匹配的健康个体中的单倍型。使用Sequenom MassARRAY方法确定基因型。我们使用卡方检验估计比值比（OR）和95%置信区间（95%CI）。患者和对照组在MACC1 rs975263等位基因（T与C：OR = 0.76，95%CI = 0.61 - 0.95，P = 0.014）和基因型组（TC与TT：OR = 0.70，95%CI = 0.54 - 0.92，P = 0.009；TC + CC与TT：OR = 0.71，95%CI = 0.55 - 0.92，P = 0.008）方面存在显著差异。临床特征分析表明rs975263与斯卡夫-布卢姆-理查森（SBR）3级癌症（P = 0.006）和绝经后女性（P = 0.018）之间存在显著关联。与rs4721888 CC基因型相比，患者中rs4721888 GC和GC + CC变异的频率更高。进一步分析显示变异基因型与淋巴结转移呈正相关。然而，我们未发现rs1990172或rs3735615多态性与BC风险之间存在任何关系。此外，单倍型分析表明CTGG和CTCG单倍型（rs975263、rs1990172、rs3735615、rs4721888）与BC易感性降低显著相关（分别为P = 0.029和0.019）。我们的结果表明，MACC1基因中的rs975263和rs4721888多态性与BC易感性风险相关，可能参与中国女性BC的进展。
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