摘要：一项最新研究发现，某种特殊的基因变异可能与心脏骤停有关，这一发现将有助于预防和治疗心脏骤停。
来自美国、加拿大、芬兰和荷兰等国的研究人员参加了这项研究。为探讨遗传变异与心脏骤停之间的关系，研究人员将4402名心脏骤停患者的基因与3万名正常人的基因进行比对。研究发现，BAZ2B基因与心脏骤停有关，当该基因发生变异时，心脏骤停的几率会高于正常人两倍，而且往往会在没有任何预兆的情况下发生，所导致的死亡率高达95%。
研究人员表示，他们正开始揭示心脏骤停的秘密及其预防方法。如果等到患者心脏骤停时再治疗，那就太迟了。这就是事先搞清楚具有什么样基因的人会得此病的重要性。
心脏骤停是指心脏射血功能突然终止，大动脉搏动与心音消失，重要器官如大脑严重缺血、缺氧，导致生命终止。
这项研究成果发表在新一期美国《公共科学图书馆—遗传学》的网络版上。
Table 1. Summary of GWAS and follow-up genotyping results for association with SCD.
Figure 1. Regional association plot for rs4655058.
Each SNP is plotted with respect to its chromosomal location (x-axis) and P-value (y-axis on the left). The tall blue spikes indicate the recombination rate (y-axis on the right) at that region of the chromosome. The index SNP is denoted by the larger diamond, for both the GWAS (red) and combined GWAS and validation results (blue). The dotted black line denotes genome-wide significance (P<5×10−8). Shading of additional SNPs indicates degree of linkage disequilibrium with the index SNP (red: r2≥0.8, orange: 0.5≤r2<0.8, grey: 0.2≤r2<0.5, white: r2<0.2).
Table 2. Association of QRS/QT interval associated SNPs with SCD.
生物探索推荐英文论文摘要：
Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals
Abstract
Sudden cardiac death (SCD) continues to be one of the leading causes of mortality worldwide, with an annual incidence estimated at 250,000–300,000 in the United States and with the vast majority occurring in the setting of coronary disease. We performed a genome-wide association meta-analysis in 1,283 SCD cases and >20,000 control individuals of European ancestry from 5 studies, with follow-up genotyping in up to 3,119 SCD cases and 11,146 controls from 11 European ancestry studies, and identify the BAZ2B locus as associated with SCD (P = 1.8×10−10). The risk allele, while ancestral, has a frequency of ~1.4%, suggesting strong negative selection and increases risk for SCD by 1.92–fold per allele (95% CI 1.57–2.34). We also tested the role of 49 SNPs previously implicated in modulating electrocardiographic traits (QRS, QT, and RR intervals). Consistent with epidemiological studies showing increased risk of SCD with prolonged QRS/QT intervals, the interval-prolonging alleles are in aggregate associated with increased risk for SCD (P = 0.006).
