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Polymorphisms in lncRNA HOTAIR and susceptibility to breast cancer in a Chinese population

机译：lncRNA HOTAIR基因多态性与中国人群乳腺癌易感性

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Controversial data have emerged on the association between cancer risk and the single-nucleotide polymorphism (SNP, rs920778C > T) in Hox transcript antisense RNA (HOTAIR). No data on the association between HOTAIR polymorphism and breast cancer (BC) susceptibility and reproductive factors have been reported in China. In this study we investigated the association between HOTAIR polymorphisms and BC susceptibility in a population-based case-control study of 502 cases and 504 matched controls in China. Three haplotype tagging SNPs (rs1899663, rs4759314, rs920778) of HOTAIR were genotyped with polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) and created-restriction-site PCR (CRS-RFLP) assays. False-positive report probability (FPRP) was calculated to test for false-positive associations. Interactions between the SNPs and reproductive factors were further evaluated by the multifactor dimensionality reduction (MDR) method. BC risk reduction was confined to subgroups of age at menarche >14 (OR: 0.42, 95%CI: 0.21, 0.82) and number of pregnancies >2 (OR: 0.65, 95%CI: 0.49, 0.95) for GT + TT rs1899663, and age at menopause <= 50 (OR: 0.97, 95%CI: 0.84, 0.99) for AG + GG rs4759314. Subjects with Trs920778 had a significantly increased risk of breast cancer (OR: 1.41, 95%CI: 1.13, 1.75). We observed a significant interaction between rs920778 and reproductive factors, including age at menopause, number of abortions, and family history. Our results were unlikely to be false positives according to FPRP calculation. In conclusion, genetic variant rs920778 in HOTAIR significantly increased the risk of BC, and it may have apparent interaction with reproductive factors in the progression on BC. These findings extend available data on the association between HOTAIR polymorphisms and BC susceptibility. (C) 2015 Elsevier Ltd. All rights reserved.
机译：关于癌症风险与Hox转录反义RNA（HOTAIR）中单核苷酸多态性（SNP，rs920778C> T）之间的关联的争议性数据已经出现。中国尚无关于HOTAIR基因多态性与乳腺癌（BC）易感性和生殖因子之间关联的数据。在这项研究中，我们调查了HOTAIR多态性与BC易感性之间的相关性，该研究以人群为基础的中国502例和504例对照病例对照研究。使用聚合酶链反应限制性片段长度多态性（PCR-RFLP）和创建限制性位点PCR（CRS-RFLP）分析对HOTAIR的三个单倍型标记SNP（rs1899663，rs4759314，rs920778）进行基因分型。计算假阳性报告概率（FPRP）以测试假阳性关联。通过多因素降维（MDR）方法进一步评估了SNP与生殖因子之间的相互作用。对于GT + TT rs1899663，月经初潮> 14（OR：0.42，95％CI：0.21、0.82）和怀孕次数> 2（OR：0.65，95％CI：0.49，0.95）的BC风险降低仅限于亚组。和AG + GG rs4759314的绝经年龄<= 50（OR：0.97，95％CI：0.84，0.99）。患有Trs920778的受试者患乳腺癌的风险显着增加（OR：1.41，95％CI：1.13，1.75）。我们观察到rs920778与生殖因素（包括更年期年龄，流产次数和家族史）之间存在显着的相互作用。根据FPRP计算，我们的结果不太可能是假阳性。总之，HOTAIR中的遗传变异rs920778显着增加了BC的风险，并且在BC的进展中它可能与生殖因子有明显的相互作用。这些发现扩展了有关HOTAIR多态性与BC易感性之间关联的可用数据。 （C）2015 Elsevier Ltd.保留所有权利。

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