Association of SNP Rs9943582 in APLNR with Left Ventricle Systolic Dysfunction in Patients with Coronary Artery Disease in a Chinese Han GeneID Population.
Association of SNP Rs9943582 in APLNR with Left Ventricle Systolic Dysfunction in Patients with Coronary Artery Disease in a Chinese Han GeneID Population.
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APLNR 中的 SNP Rs9943582 与中国汉族 GeneID 人群冠心病患者左心室收缩功能障碍的关联
DOI：
10.1371/journal.pone.0125926
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Cheng X
中科院分区：
文献类型：
--
作者：
Wang P;Xu C;Wang C;Wu Y;Wang D;Chen S;Zhao Y;Wang X;Li S;Yang Q;Zeng Q;Tu X;Liao Y;Wang QK;Cheng X
心力衰竭影响全世界1-2%的成年人群，冠状动脉疾病（CAD）是70%患者心力衰竭的潜在病因。在动物模型中，爱帕琳及其爱帕琳受体（APJ）的通路与心力衰竭的发病机制有关，但在人类中的类似作用尚不清楚。我们研究了一个位于5 '非翻译区的功能性变体rs 9943582（-154G/A），该变体与1，751例CAD病例和1，022例对照人群中APJ受体基因（APLNR）表达降低相关。rs 9943582变异与冠心病无关，但在冠心病患者中，它与左心室收缩功能障碍显著相关（431例左心室收缩功能障碍（LV射血分数或LVEF< 40%）的CAD患者与1，046例无LV收缩功能障碍的CAD患者（LVEF>50%）（P调整= 6.71×10-5，OR = 1.43，95% CI，1.20-1.70）。此外，rs 9943582还显示与定量超声心动图参数（包括左室舒张末期内径）显著相关（效应量：每个风险等位基因A增加1.67±0.43 mm，P = 1.15×10-4），左心房大小（效应量：每个危险等位基因A增加2.12±0.61 mm，P = 9.56×10-4）和LVEF（效应量：每个危险等位基因A降低2.59± 0.32%，P = 7.50×10-15）。我们的研究结果表明，rs 9943582的等位基因A与冠心病人群中的左心室收缩功能障碍、左心室舒张末期内径、左心房内径和LVEF显著相关，这表明apelin/APJ系统在缺血性心脏病相关心力衰竭的病理中起重要作用。
Heart failure affects 1–2% of the adult population worldwide and coronary artery disease (CAD) is the underlying etiology of heart failure in 70% of the patients. The pathway of apelin and its apelin receptor (APJ) was implicated in the pathogenesis of heart failure in animal models, but a similar role in humans is unknown. We studied a functional variant, rs9943582 (-154G/A), at the 5’-untranslated region, that was associated with decreased expression of the APJ receptor gene (APLNR) in a population consisting of 1,751 CAD cases and 1,022 controls. Variant rs9943582 was not associated with CAD, but among CAD patients, it showed significant association with left ventricular systolic dysfunction (431 CAD patients with left ventricular systolic dysfunction (LV ejection fraction or LVEF< 40%) versus 1,046 CAD patients without LV systolic dysfunction (LVEF>50%) (P-adj = 6.71×10-5, OR = 1.43, 95% CI, 1.20–1.70). Moreover, rs9943582 also showed significant association with quantitative echocardiographic parameters, including left ventricular end-diastolic diameter (effect size: increased 1.67±0.43 mm per risk allele A, P = 1.15×10-4), left atrial size (effect size: increased 2.12±0.61 mm per risk allele A, P = 9.56×10-4) and LVEF (effect size: decreased 2.59±0.32 percent per risk allele A, P = 7.50×10-15). Our findings demonstrate that allele A of rs9943582 was significantly associated with left ventricular systolic dysfunction, left ventricular end-diastolic diameter, the left atrial diameter and LVEF in the CAD population, which suggests an important role of the apelin/APJ system in the pathology of heart failure associated with ischemic heart disease.
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DOI：
10.1016/s0197-2456(98)00037-3
发表时间：
1998-12-01
期刊：
CONTROLLED CLINICAL TRIALS
影响因子：
--
作者：
Dupont, WD;Plummer, WD
通讯作者：
Plummer, WD
影响因子：
37.8
作者：
Baicu, CF;Zile, MR;Gaasch, WH
通讯作者：
Gaasch, WH
APJ充当心脏肥大中的双重受体。
影响因子：
64.8
作者：
Scimia, Maria Cecilia;Hurtado, Cecilia;Ray, Saugata;Metzler, Scott;Wei, Ke;Wang, Jianming;Woods, Chris E.;Purcell, Nicole H.;Catalucci, Daniele;Akasaka, Takeshi;Bueno, Orlando F.;Vlasuk, George P.;Kaliman, Perla;Bodmer, Rolf;Smith, Layton H.;Ashley, Euan;Mercola, Mark;Brown, Joan Heller;Ruiz-Lozano, Pilar
通讯作者：
Ruiz-Lozano, Pilar
影响因子：
37.8
作者：
SAHN, DJ;DEMARIA, A;WEYMAN, A
通讯作者：
WEYMAN, A
同一染色体 9p21.3 位点与中国汉族人群中的 2 型糖尿病和冠状动脉疾病相关
影响因子：
7.7
作者：
Cheng, Xiang;Shi, Lisong;Wang, Qing K.
通讯作者：
Wang, Qing K.