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[心肌梗死易感性测定中的纤维生成相关基因]

[Genes for Fibrogenesis in the Determination of Susceptibility to Myocardial Infarction].

作者信息

Goncharova I A, Makeeva O A, Golubenko M V, Markov A V, Tarasenko N V, Sleptsov A A, Puzyrev V P

机构信息

Research Institute for Medical Genetics, Tomsk, 634050 Russia.

Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, 650002 Russia.

出版信息

Mol Biol (Mosk). 2016 Jan-Feb;50(1):94-105. doi: 10.7868/S0026898415060099.

Abstract

A group of patients with ischemic heart disease and myocardial infarction (N = 156) and a reference population sample (N = 300) were genotyped for 58 single nucleotide polymorphisms (SNPs) in the genes involved in extracellular matrix function and collagen metabolism or associated with cardiovascular diseases and atherosclerotic plaque stability. Genotyping was performed by mass-spectrometry with two multiplex sets of 27 and 31 SNPs. The study revealed different genetic composition of predisposition to cardiovascular disease continuum (CVDC) syntropy (patients with concomitant conditions: hypercholesterolemia, hypertension, and type-II diabetes mellitus, N = 96) and to isolated myocardial infarction (without these conditions, N = 60). Only the KIAA1462 gene (rs3739998) showed associations with both CVDC syntropy (OR = 1.71; 95% CI 1.19-2.45; р = 0.003) and isolated infarction (OR = 1.58; 95% CI 1.05-2.40; р = 0.028). Isolated myocardial infarction was also associated with LIG1 (rs20579) (OR = 2.08; 95% CI 1.06-4.17; р = 0.028) and ADAMDEC1 (rs3765124) (OR = 1.63; 95% CI 1.07-2.50; р = 0.020). CVDC syntropy was associated with CDKN2BAS1 (rs1333049) (OR = 1.48; 95% CI 1.03-2.12; р = 0.029) and APOA2 (rs5082) (OR = 1.47; 95% CI 1.02-2.11; р = 0.035). So, genes involved in fibrogenesis contribute to predisposition to the myocardial infarction as well. Isolated myocardial infarction and CVDC syntropy can be considered as pathogenetically different cardiovascular conditions, with different genes that contribute to the susceptibility.

摘要

对一组缺血性心脏病和心肌梗死患者(N = 156)以及一个参考人群样本(N = 300),就参与细胞外基质功能和胶原代谢的基因或与心血管疾病及动脉粥样硬化斑块稳定性相关的基因中的58个单核苷酸多态性(SNP)进行基因分型。基因分型通过质谱法使用两组分别包含27个和31个SNP的多重检测进行。该研究揭示了心血管疾病连续体(CVDC)共病(伴有高胆固醇血症、高血压和II型糖尿病等合并症的患者,N = 96)和孤立性心肌梗死(无这些合并症,N = 60)的易感性遗传组成不同。只有KIAA1462基因(rs3739998)显示与CVDC共病(比值比[OR] = 1.71;95%可信区间[CI] 1.19 - 2.45;p = 0.003)和孤立性梗死(OR = 1.58;95% CI 1.05 - 2.40;p = 0.028)均有关联。孤立性心肌梗死还与LIG1(rs20579)(OR = 2.08;95% CI 1.06 - 4.17;p = 0.028)和ADAMDEC1(rs3765124)(OR = 1.63;95% CI 1.07 - 2.50;p = 0.020)有关联。CVDC共病与CDKN2BAS1(rs1333049)(OR = 1.48;95% CI 1.03 - 2.12;p = 0.

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