Yang C, Chen F, Li Sh, Zeng X, Wang Sh, Lan J
Division of Cardiology, Panzhihua Central Hospital, Panzhihua, China.
Department of Hematology, Panzhihua Central Hospital, Panzhihua, China.
Balkan J Med Genet. 2023 Jul 31;26(1):27-34. doi: 10.2478/bjmg-2023-0004. eCollection 2023 Jul.
Several investigations have demonstrated the association of with left ventricular (LV) structure and function. A recently published study has even revealed that rs35006907 was associated with both expression and the risk of dilated cardiomyopathy (DCM).
Our study intended to investigate the relationship between rs35006907 and the risk of DCM in the Han Chinese population.
A total of 529 DCM and 600 healthy controls were recruited. We conducted genotyping for rs35006907 in all participants. Gene association studies were performed to assess the association between rs35006907 and the risk of DCM. A series of functional assays including western blot, realtime PCR and firefly luciferase reporter gene assays were conducted to illuminate the underlying mechanism.
We found that rs35006907-A allele was significantly associated with reduced risk of DCM in additive (p= 0.004; OR=0.78; 95% CI=0.66-0.93) and recessive models (p= 0.0005; OR=0.56; 95%CI=0.41-0.78) when compared with the rs35006907-C allele. There were significant differences in the left ventricular end-diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF) between rs35006907-CC/AC and AA genotypes. Furthermore, the variant rs35006907-A allele presented lower reporter gene activity, reduced mRNA and protein expression levels when compared with the C allele.
Our findings demonstrated that rs35006907-C allele increased the risk of DCM in Han Chinese population. Besides, rs35006907-C displayed higher reporter gene activity and increased expression in human samples.
多项研究已证实[具体内容缺失]与左心室（LV）结构和功能之间存在关联。最近发表的一项研究甚至表明，rs35006907与[具体内容缺失]表达及扩张型心肌病（DCM）风险均相关。
我们的研究旨在探讨rs35006907与中国汉族人群DCM风险之间的关系。
共招募了529例DCM患者和600例健康对照。我们对所有参与者进行了rs35006907基因分型。进行基因关联研究以评估rs35006907与DCM风险之间的关联。开展了一系列功能测定，包括蛋白质印迹法、实时荧光定量PCR和萤火虫荧光素酶报告基因测定，以阐明潜在机制。
我们发现，与rs35006907 - C等位基因相比，rs35006907 - A等位基因在加性模型（p = 0.004；OR = 0.78；95%CI = 0.66 - 0.93）和隐性模型（p = 0.0005；OR = 0.56；95%CI = 0.41 - 0.78）中与DCM风险降低显著相关。rs35006907 - CC/AC和AA基因型之间的左心室舒张末期内径（LVEDD）和左心室射血分数（LVEF）存在显著差异。此外，与C等位基因相比，rs35006907 - A等位基因的报告基因活性较低，mRNA和蛋白质表达水平降低。
我们的研究结果表明，rs35006907 - C等位基因增加了中国汉族人群患DCM的风险。此外，rs35006907 - C在人类样本中显示出更高的报告基因活性并增加了[具体内容缺失]表达。
