A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention.
A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention.
复制标题
一项全基因组关联研究将 12 号染色体上的一个区域确定为经皮冠状动脉介入治疗后再狭窄的潜在易感位点。
DOI：
10.1093/hmg/ddr389
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发表时间：
2011
影响因子：
3.5
通讯作者：
vand
中科院分区：
文献类型：
--
作者：
Sampietro,MLourdes;Trompet,Stella;Verschuren,JeffreyJW;Talens,RudolfP;Deelen,Joris;Heijmans,BastiaanT;deWinter,RobbertJ;Tio,ReneA;Doevendans,PieterAFM;Ganesh,SanthiK;Nabel,ElizabethG;Westra,Harm-Jan;Franke,Lude;vand
经皮冠状动脉介入治疗(PCI)已成为治疗阻塞性冠状动脉疾病(CAD)的有效方法。然而，经皮冠状动脉介入治疗的主要缺点之一是，在所有最初接受治疗的患者中，有5-25%会发生再狭窄。再狭窄的定义是血管管腔的再次狭窄，导致新的症状和需要反复干预。为了确定与再狭窄相关的基因变异，对295名发生再狭窄的患者(病例)和571名没有发生再狭窄的患者(对照)进行了全基因组关联研究(GWAS)，这些患者来自再狭窄的遗传决定因素(性别)研究。对性别的∼550000单核苷酸多态(SNP)进行分析后，在三个独立的病例对照人群(533例病例和3067例对照)中进行复制阶段。12号染色体上的rs10861032(P合并=1.11×10−7)和rs9804922(P合并=1.45×10−6)是GWA期和复制期再狭窄的潜在易感基因。此外，这两个SNP还与冠状动脉事件相关(rs10861032，P添加=0.005；rs9804922，P添加=0.023)，在基于试验的队列老年患者中，冠心病(PROSPER)的风险增加(rs10861032，P添加=0.007；rs9804922，P添加=0.013)和性别(rs10861032，P添加=0.005；rs9804922，P添加=0.023)相关。进一步分析表明，该基因座可能参与调控功能。
Percutaneous coronary intervention (PCI) has become an effective therapy to treat obstructive coronary artery diseases (CAD). However, one of the major drawbacks of PCI is the occurrence of restenosis in 5–25% of all initially treated patients. Restenosis is defined as the re-narrowing of the lumen of the blood vessel, resulting in renewed symptoms and the need for repeated intervention. To identify genetic variants that are associated with restenosis, a genome-wide association study (GWAS) was conducted in 295 patients who developed restenosis (cases) and 571 who did not (controls) from the GENetic Determinants of Restenosis (GENDER) study. Analysis of ∼550 000 single nucleotide polymorphisms (SNPs) in GENDER was followed by a replication phase in three independent case–control populations (533 cases and 3067 controls). A potential susceptibility locus for restenosis at chromosome 12, including rs10861032 (Pcombined= 1.11 × 10−7) and rs9804922 (Pcombined= 1.45 × 10−6), was identified in the GWAS and replication phase. In addition, both SNPs were also associated with coronary events (rs10861032,Padditive= 0.005; rs9804922,Padditive= 0.023) in a trial based cohort set of elderly patients with (enhanced risk of) CAD (PROSPER) and all-cause mortality in PROSPER (rs10861032,Padditive= 0.007; rs9804922,Padditive= 0.013) and GENDER (rs10861032,Padditive= 0.005; rs9804922,Padditive= 0.023). Further analysis suggests that this locus could be involved in regulatory functions.
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DOI：
10.1056/nejmra0808700
发表时间：
2009-04-23
期刊：
The New England journal of medicine
影响因子：
--
作者：
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通讯作者：
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影响因子：
37.8
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DOI：
10.1056/nejm199906173402418
发表时间：
1999-06
期刊：
The New England journal of medicine
影响因子：
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影响因子：
37.8
作者：
A. Kastrati;A. Schömig;S. Elezi;H. Schühlen;M. G. Wilhelm;J. Dirschinger
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J. Dirschinger
DOI：
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期刊：
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影响因子：
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Jun Z. Li;D. Absher;Hua Tang;Audrey M. Southwick;A. Casto;Sohini Ramachandran;H. Cann;G. Barsh