Ramírez-Bello Julián, Vargas-Alarcón Gilberto, Tovilla-Zárate Carlos, Fragoso José Manuel
Laboratorio de Inmunogenómica y Enfermedades Metabólicas, Instituto Nacional de Medicina Genómica. México, D.F.
Gac Med Mex. 2013 Mar-Apr;149(2):220-8.
Single nucleotide polymorphisms (SNPs) represent to the genetics variant most common founded in the human genome. These polymorphisms have a wide distribution and can found in any region of gene or mRNA, the SNPs that have functional implications on the levels of gene expression are called regulatory SNPs (rSNPs), while those that affect translation, splicing, efficiency to enhance or inhibit the alternative, mRNA stability and protein function (without altering its structure), they are called structural RNA SNPs (srSNPs). Several studies have identified to these polymorphisms associated with different common diseases e.g. hypertension, obesity, rheumatoid arthritis and coronary artery disease. The aim of this review is to discuss the functional implication of rSNPs and srSNPs in the common diseases.
单核苷酸多态性(SNPs)是人类基因组中最常见的遗传变异。这些多态性分布广泛,可存在于基因或mRNA的任何区域,对基因表达水平有功能影响的SNPs被称为调控性SNPs(rSNPs),而那些影响翻译、剪接、增强或抑制可变剪接效率、mRNA稳定性和蛋白质功能(不改变其结构)的则被称为结构性RNA SNPs(srSNPs)。多项研究已确定这些多态性与不同的常见疾病相关,如高血压、肥胖症、类风湿性关节炎和冠状动脉疾病。本综述的目的是探讨rSNPs和srSNPs在常见疾病中的功能意义。