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9p21基因变异可预测中国汉族人群冠状动脉疾病的严重程度。

Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population.

作者信息

Jing Jinjin, Su Li, Zeng Ying, Tang Xiaojun, Wei Jie, Wang Long, Zhou Li

机构信息

Department of Cardiology, the Second Affiliated Hospital of Chongqing Medical University, the Chongqing Cardiac Arrhythmias Service Center, Chongqing, China.

Institute of Cardiovascular Diseases of PLA, Xinqiao Hospital, Third Military Medical University, Chongqing, China.

出版信息

Ann Hum Genet. 2016 Sep;80(5):274-81. doi: 10.1111/ahg.12163. Epub 2016 Jul 27.

Abstract

Recent genome-wide association studies identified the common genetic variants in 9p21 were associated with the coronary artery disease (CAD). However, whether this locus could predict the severity of CAD in Chinese Han population is unclear. 499 CAD patients who underwent coronary angiography (CAG) have been enrolled for this study. The single-nucleotide polymorphisms rs2383207 and rs2383206 in 9p21 were genotyped in 499 CAG cases and 1519 controls in Chinese Han population. The gene dosage of 9p21 was stratified by the degree of vascular lesions and tested for association with the severity of CAD. Rs2383207 and rs2383206 demonstrated significant associations with 2-vessel and 3-vessel disease (P = 2.0×10(-3) and 1.9×10(-4) , respectively). GG genotypes of rs2383206 occurred higher proportion of left main trunk (LM) disease (P = 6.0×10(-3) ). GG genotypes of rs2383207 occurred higher proportion of left anterior descending artery disease (LAD) and right CAD (RCA) (P = 2.7×10(-6) and 1.6×10(-4) , respectively). The risk allele G of rs2383207 was associated with severity of CAD estimated by the Gensini score (P = 3.6×10(-5) ). Rs2383207 may strongly influence the development of CAD in Chinese Han population. The gene dosage in 9p21 could predict the severity of CAD.

摘要

近期全基因组关联研究发现,9号染色体短臂2区1带(9p21)上的常见基因变异与冠状动脉疾病(CAD)相关。然而,该基因座能否预测中国汉族人群CAD的严重程度尚不清楚。本研究纳入了499例接受冠状动脉造影(CAG)的CAD患者。对中国汉族人群的499例CAG病例和1519例对照进行了9p21上单核苷酸多态性rs2383207和rs2383206的基因分型。根据血管病变程度对9p21的基因剂量进行分层,并检测其与CAD严重程度的相关性。Rs2383207和rs2383206与双支血管病变和三支血管病变显著相关(P值分别为2.0×10⁻³和1.9×10⁻⁴)。rs2383206的GG基因型在左主干(LM)病变中出现的比例较高(P = 6.0×10⁻³)。rs2383207的GG基因型在左前降支病变(LAD)和右冠状动脉病变(RCA)中出现的比例较高(P值分别为2.7×10⁻⁶和1.6×10⁻⁴)。rs2383207的风险等位基因G与根据Gensini评分评估的CAD严重程度相关(P = 3.6×10⁻⁵)。Rs2383207可能对中国汉族人群CAD的发生发展有强烈影响。9p21的基因剂量可预测CAD的严重程度。

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