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巴西乳腺癌队列中的LncRNA-SNP:一个病例对照研究

Carolina Mathias¹, Anelis Maria Marin², Ana Flávia Kohler¹

¹Department of Genetics, Federal University of Parana, Graduate Program in Genetics, Curitiba 81310-020, Brazil.

|May 27, 2023

概括

这项研究确定了与巴西人口乳腺癌 (BC) 风险增加相关的特定长非编码RNA单核酸多态 (lncRNA-SNPs). 这些遗传变异可能会影响BC的发展和进展,强调需要进一步调查.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
癌症研究癌症研究

背景情况:

长非编码RNAs (lncRNAs) 是各种疾病的关键调节者,包括乳腺癌 (BC).
在lncRNA区域内的单核酸多态 (SNP) 与BC易感性有关,但关于巴西人口的数据很少.
乳腺癌是一种全球流行且异质的癌症,影响着世界各地的女性.

研究的目的:

在巴西人口中识别 lncRNA-SNP 与乳腺癌发展的潜在生物学作用.
研究特定的lncRNA-SNP与BC风险和临床病理特征的关联.

主要方法:

利用一种生物信息学方法,将癌症基因组图谱 (TCGA) 数据与差异表达的lncRNA和与BC相关的SNP的基因组广泛协会研究 (GWAS) 目录相结合.
在巴西BC患者样本中,使用病例控制研究对四个选定的lncRNA-SNP (rs3803662,rs4415084,rs4784227,rs7716600) 进行基因型鉴定.
分析了与已识别的SNP相关的lncRNA二次结构和miRNA结合部位变化.

主要成果:

确定了四个lncRNA-SNP (rs3803662,rs4415084,rs4784227,rs7716600),可能与BC有关.
SNP rs4415084和rs7716600显著与患BC风险增加有关.
在BC患者中,SNP rs4415084与孕激素受体状态相关,SNP rs7716600与淋巴结状态相关.
rs3803662/rs4784227 (GT) 哈普洛型也与BC风险有关.

结论:

生物信息学方法成功地确定了在BC发育中具有潜在生物学意义的lncRNA-SNP.
特定的lncRNA-SNP (rs4415084,rs7716600) 和一个单元型 (GT) 与巴西人群中BC风险增加有关.
对lncRNA-SNP进行进一步的研究是有必要的,特别是在巴西等多样化的人口中,以了解它们在BC等异质疾病中的作用.

关键词:

乳腺癌的易感性乳腺癌的易感性需要380366262的费用.4415084 美元的价格.其他其他其他其他其他 rs4784227 需要使用 rs7716600

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