Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy
Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy
复制标题
DOI：
10.2217/epi-2017-0175
复制
发表时间：
2018-07-01
期刊：
影响因子：
3.8
通讯作者：
Coto, Eliecer
中科院分区：
文献类型：
--
作者：
Gomez, Juan;Lorca, Rebeca;Coto, Eliecer
目的：已发现长非编码 RNA H19 及其宿主微 RNAmiR-675 在心脏肥大和心力衰竭组织中失调。我们的目的是调查 H19 基因变异是否与肥厚型心肌病 (HCM) 的风险相关。患者和方法：我们对 405 名 HCM 患者和 550 名对照者的两个 H19 标签单核苷酸多态性进行了基因分型，并对 100 名患者的该基因进行了测序。结果： rs2107425 C 在肌小节无突变患者中显着增加 (n = 225；p = 0.01)：CC 与 CT + TT 相比，p = 0.017；奇数比：1.51。 H19 编码转录本的测序鉴定出两名患者是罕见变异 rs945977096 G/A 的杂合携带者，而对照组中不存在这种变异。结论：我们的研究表明 H19 变异与发生 HCM 的风险之间存在显着关联。
Aim: The long noncoding RNA H19 and its hostmicro RNAmiR-675 have been found deregulated in cardiac hypertrophy and heart failure tissues. Our aim was to investigate whether the H19 gene variants were associated with the risk of hypertrophic cardiomyopathy (HCM). Patients & methods: We genotyped two H19 tag single nucleotide polymorphisms in 405 HCM patients and 550 controls, and sequenced this gene in 100 patients. Results: The rs2107425 C was significantly increased in sarcomere no-mutation patients (n = 225; p = 0.01): CC versus CT + TT, p = 0.017; odd ratios: 1.51. Sequencing of the H19 coding transcript identified two patients heterozygous carriers for a rare variant, rs945977096 G/A, that was absent among the controls. Conclusion: Our study suggested a significant association between H19 variants and the risk of developing HCM.