Breast cancer (BC) is the leading cause of death by this disease in women worldwide. Among the factors involved in tumorigenesis, long non-coding RNAs (lncRNAs) and their differential expression have been associated. Differences in gene expression may be triggered by variations in DNA sequence, including single nucleotide polymorphisms (SNPs). In the present study, we analyzed the rs527616 (C>G), located in the lncRNA AQP4-AS1, using PCR-SSP in 306 BC patients and 312 controls, from a Brazilian population. In the BC group, the frequency found for CG heterozygotes was above the expected and the overdominant model is the best one to explain our results (OR: 1.70, IC 95%: 1.23-2.34, P<0.001). Furthermore, the SNP were associated with age at BC diagnosis and the risk genotype more frequent in the older age group. According to TCGA data, AQP4-AS1 is down-regulated in BC tissue, and the overexpression is associated with better prognoses, including Luminal A, HER2-, stage 1 of disease and smaller tumor. In conclusion, the CG genotype is associated with increased susceptibility in the southern Brazilian population. This SNP is mapped in the lncRNA AQP4-AS1, showing differential expression in BC samples. Based on these results, we emphasize the potential of the role of AQP4-AS1 in cancer.

中文翻译：

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lncRNA AQP4-AS1 中的 SNP rs527616 与巴西南部人群乳腺癌易感性之间的关联。


乳腺癌（BC）是全世界女性因该疾病死亡的主要原因。在参与肿瘤发生的因素中，长链非编码RNA（lncRNA）及其差异表达相关。基因表达的差异可能是由 DNA 序列的变化引发的，包括单核苷酸多态性 (SNP)。在本研究中，我们使用 PCR-SSP 对来自巴西人群的 306 名 BC 患者和 312 名对照者分析了位于 lncRNA AQP4-AS1 中的 rs527616 (C>G)。在 BC 组中，CG 杂合子的频率高于预期，超显性模型是解释我们结果的最佳模型（OR：1.70，IC 95%：1.23-2.34，P<0.001）。此外，SNP 与 BC 诊断时的年龄相关，并且风险基因型在年龄较大的组中更常见。根据TCGA数据，AQP4-AS1在BC组织中下调，过度表达与更好的预后相关，包括Luminal A、HER2-、疾病1期和较小的肿瘤。总之，CG 基因型与巴西南部人群的易感性增加有关。该 SNP 映射到 lncRNA AQP4-AS1 中，显示 BC 样本中的差异表达。基于这些结果，我们强调 AQP4-AS1 在癌症中的潜在作用。