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。（生物谷Bioon.com）
生物谷推荐原文出处：
PLoS Genetic doi:10.1371/journal.pgen.1002158
Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals
Dan E. Arking, etc
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).
