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9号染色体p21.3区域的冠状动脉疾病风险基因座与腹主动脉瘤之间的关联。

Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm.

作者信息

Bown Matthew J, Braund Peter S, Thompson John, London Nicholas J M, Samani Nilesh J, Sayers Robert D

机构信息

Department of Cardiovascular Sciences, University of Leicester, Leicester, UK.

出版信息

Circ Cardiovasc Genet. 2008 Oct;1(1):39-42. doi: 10.1161/CIRCGENETICS.108.789727.

Abstract

BACKGROUND

Recent genome-wide studies have shown a significant association of a locus on chromosome 9p21.3 and coronary artery disease. We performed a case-control study to investigate the association between this locus and abdominal aortic aneurysm (AAA).

METHODS AND RESULTS

A total of 1714 patients (899 patients with AAA and 815 controls) were genotyped for the lead single-nucleotide polymorphism, rs1333049, on chromosome 9p21. The frequency of the C (risk) allele of rs1333049 in the control group was 0.471. There was a significant association between the C allele and AAA (odds ratio, 1.22; 95% confidence interval, 1.06 to 1.39; P=0.004). The genotypic-specific odds ratios (compared with the GG genotype) were 1.17 (95% confidence interval, 0.93 to 1.47; P=0.191) for the GC genotype and 1.50 (95% confidence interval, 1.14 to 1.97; P=0.004) for the CC genotype. In logistic regression modeling, the association of the CC genotype with AAA was independent of the presence of clinical coronary artery disease (odds ratio, 1.46; 95% confidence interval, 1.11 to 1.94; P=0.008).

CONCLUSIONS

Our study shows that the recently identified chromosome 9 variant that increases risk of coronary artery disease is also associated with the presence of AAA. The findings suggest that the effect of this locus on risk of cardiovascular disease extends beyond the coronary circulation.

摘要

背景

近期全基因组研究表明,9号染色体p21.3位点与冠状动脉疾病存在显著关联。我们开展了一项病例对照研究,以探究该位点与腹主动脉瘤(AAA)之间的关联。

方法与结果

对总共1714例患者(899例AAA患者和815例对照)进行基因分型,检测9号染色体p21上的主要单核苷酸多态性rs1333049。rs1333049的C(风险)等位基因在对照组中的频率为0.471。C等位基因与AAA之间存在显著关联(优势比,1.22;95%置信区间,1.06至1.39;P = 0.004)。与GG基因型相比,GC基因型的基因型特异性优势比为1.17(95%置信区间,0.93至1.47;P = 0.191),CC基因型为1.50(95%置信区间,1.14至1.97;P = 0.004)。在逻辑回归模型中,CC基因型与AAA的关联独立于临床冠状动脉疾病的存在(优势比,1.46;95%置信区间,1.11至1.94;P = 0.008)。

结论

我们的研究表明,最近发现的增加冠状动脉疾病风险的9号染色体变异也与AAA的存在相关。这些发现表明,该位点对心血管疾病风险的影响超出了冠状动脉循环。

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