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Association between SNP rs527616 in lncRNA AQP4-AS1 and susceptibility to breast cancer in a southern Brazilian population.
Genetics and Molecular Biology ( IF 2.1 ) Pub Date : 2021-03-12 , DOI: 10.1590/1678-4685-gmb-2020-0216
Rafael D Marchi 1 , Carolina Mathias 1 , Gabriel A K Reiter 1 , Rubens Silveira de Lima 2 , Flávia Kuroda 2 , Cícero de Andrade Urban 2 , Ricardo L R de Souza 1 , Daniela F Gradia 1 , Enilze M S F Ribeiro 1 , Iglenir J Cavalli 1 , Jaqueline Carvalho de Oliveira 1
Affiliation  

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:

在巴西南部人群中,lncRNA AQP4-AS1中的SNP rs527616与乳腺癌易感性之间的关联。

乳腺癌(BC)是全世界女性中由该疾病引起的死亡的主要原因。在涉及肿瘤发生的因素中,长的非编码RNA(lncRNA)及其差异表达已经相关。基因表达的差异可能由DNA序列的变化触发,包括单核苷酸多态性(SNP)。在本研究中,我们使用PCR-SSP技术对来自巴西人群的306名BC患者和312名对照进行了分析,分析了位于lncRNA AQP4-AS1中的rs527616(C> G)。在BC组中,CG杂合子的发现频率高于预期频率,而优势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,而风险基因型在老年组中更为常见。根据TCGA的数据,AQP4-AS1在BC组织中下调,并且过表达与更好的预后相关,包括Luminal A,HER2-,疾病的1期和较小的肿瘤。总之,在巴西南部人群中,CG基因型与易感性增加有关。该SNP被定位在lncRNA AQP4-AS1中,显示了在BC样品中的差异表达。基于这些结果,我们强调了AQP4-AS1在癌症中的作用潜力。
更新日期:2021-03-12
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