Association between SNP rs527616 in lncRNA AQP4-AS1 and susceptibility to breast cancer in a southern Brazilian population.
Association between SNP rs527616 in lncRNA AQP4-AS1 and susceptibility to breast cancer in a southern Brazilian population.
复制标题
lncRNA AQP 4-AS 1中SNP rs 527616与巴西南部人群乳腺癌易感性之间的关联
DOI：
10.1590/1678-4685-gmb-2020-0216
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发表时间：
2021
影响因子：
2.1
通讯作者：
Oliveira JC
中科院分区：
文献类型：
--
作者：
Marchi RD;Mathias C;Reiter GAK;Lima RS;Kuroda F;Urban CA;Souza RLR;Gradia DF;Ribeiro EMSF;Cavalli IJ;Oliveira JC
乳腺癌（BC）是全世界妇女死于这种疾病的主要原因。在参与肿瘤发生的因素中，长链非编码RNA（lncRNA）及其差异表达已被关联。基因表达的差异可能由DNA序列的变异引发，包括单核苷酸多态性（SNP）。在本研究中，我们分析了rs 527616（C>G），位于lncRNA AQP 4-AS 1，使用PCR-SSP在306 BC患者和312对照，从巴西人口。BC组CG杂合子的检出率高于预期，超显性模型最能解释本研究结果（OR：1.70，IC95%：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，AQP 4-AS 1在BC组织中下调，并且过表达与更好的预后相关，包括Luminal A、HER 2-、疾病的1期和较小的肿瘤。总之，CG基因型与巴西南部人群易感性增加有关。该SNP定位在lncRNA AQP 4-AS 1中，显示BC样品中的差异表达。基于这些结果，我们强调了AQP 4-AS 1在癌症中的潜在作用。
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.