Find in Library

<b>Background:</b> In around 40–60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic variants are not identified. Our aim was to evaluate the possible association of lncRNAs with the risk of developing HCM. <b>Methods:</b> We sequenced 10 lncRNAs coding genes that have been associated with cardiovascular disease in a discovery cohort (238 HCM patients and 212 controls) by NGS, and genotyped rs74035787 G>A and rs1424019 A>G polymorphism in a validation cohort (962 HCM patients and 923 controls). Finally, we sequenced the <i>FENDRR</i> promoter by Sanger sequencing. <b>Results:</b> We observed by NGS that <i>FENDRR</i> rs39527, rs39529 and rs40384 polymorphisms were significantly associated with HCM in our cohort (<i>p</i> = 0.0284; OR: 0.24, 95%CI: 0.07–0.86). NGS results were confirmed by genotyping rs74035787 polymorphism (<i>p</i> = 0.001; OR:0.38, 95%CI: 0.21–0.66). Moreover, it is also associated when stratification by sex (<i>p</i> = 0.003; OR:0.20, 95%CI: 0.06–0.53), and age (≥50 years old <i>p</i> = 0.001, OR:0.33, 95%CI: 0.16–0.63) Moreover, the risk of HCM in the carriers of the GG genotype of the rs1424019 polymorphism was significantly higher than that of the AA/AG genotypes carriers in the elderly subjects (<i>p</i> = 0.045, OR:1.24, 95%CI: 1.01–1.53). On the other hand, we observed significant differences in the rs74035787 A/rs1424019 G haplotype frequency (<i>p</i> = 0.0035; OR: 0.20, 95%CI: 0.07–0.59). <b>Conclusions:</b> Our study suggested a significant association between <i>FENDRR</i> gene variants and HCM.