Emiroglu Ozan, Durdu Serkan, Egin Yonca, Akar Ahmet R, Alakoc Yesim D, Zaim Cagin, Ozyurda Umit, Akar Nejat
Department of Cardiovascular Surgery, Nicosia State Hospital, Nalbantoglu Lefkosa Devlet Hastanesi, Ortakoy, Nicosia, Cyprus.
J Cardiothorac Surg. 2011 Sep 28;6:120. doi: 10.1186/1749-8090-6-120.
Emerging perioperative genomics may influence the direction of risk assessment and surgical strategies in cardiac surgery. The aim of this study was to investigate whether single nucleotide polymorphisms (SNP) affect the clinical presentation and predispose to increased risk for postoperative adverse events in patients undergoing coronary artery bypass grafting surgery (CABG).
A total of 220 patients undergoing first-time CABG between January 2005 and May 2008 were screened for factor V gene G1691A (FVL), prothrombin/factor II G20210A (PT G20210A), angiotensin I-converting enzyme insertion/deletion (ACE-ins/del) polymorphisms by PCR and Real Time PCR. End points were defined as death, myocardial infarction, stroke, postoperative bleeding, respiratory and renal insufficiency and event-free survival. Patients were compared to assess for any independent association between genotypes for thrombosis and postoperative phenotypes.
Among 220 patients, the prevalence of the heterozygous FVL mutation was 10.9% (n = 24), and 3.6% (n = 8) were heterozygous carriers of the PT G20210A mutation. Genotype distribution of ACE-ins/del was 16.6%, 51.9%, and 31.5% in genotypes I/I, I/D, and D/D, respectively. FVL and PT G20210A mutations were associated with higher prevalence of totally occluded coronary arteries (p < 0.001). Furthermore the risk of left ventricular aneurysm formation was significantly higher in FVL heterozygote group compared to FVL G1691G (p = 0.002). ACE D/D genotype was associated with hypertension (p = 0.004), peripheral vascular disease (p = 0.006), and previous myocardial infarction (p = 0.007).
FVL and PT G20210A genotypes had a higher prevalence of totally occluded vessels potentially as a result of atherothrombotic events. However, none of the genotypes investigated were independently associated with mortality.
新兴的围手术期基因组学可能会影响心脏手术风险评估的方向和手术策略。本研究的目的是调查单核苷酸多态性（SNP）是否会影响冠状动脉旁路移植术（CABG）患者的临床表现，并使其术后发生不良事件的风险增加。
对2005年1月至2008年5月期间首次接受CABG的220例患者，通过聚合酶链反应（PCR）和实时荧光定量PCR检测凝血因子V基因G1691A（FVL）、凝血酶原/因子II G20210A（PT G20210A）、血管紧张素I转换酶插入/缺失（ACE-ins/del）多态性。终点定义为死亡、心肌梗死、中风、术后出血、呼吸和肾功能不全以及无事件生存期。对患者进行比较，以评估血栓形成基因型与术后表型之间的任何独立关联。
在220例患者中，FVL杂合突变的患病率为10.9%（n = 24），PT G20210A突变的杂合携带者为3.6%（n = 8）。ACE-ins/del的基因型分布在I/I、I/D和D/D基因型中分别为16.6%、51.9%和31.5%。FVL和PT G20210A突变与完全闭塞冠状动脉的较高患病率相关（p < 0.001）。此外，与FVL G1691G相比，FVL杂合子组左心室动脉瘤形成的风险显著更高（p = 0.002）。ACE D/D基因型与高血压（p = 0.004）、外周血管疾病（p = 0.006）和既往心肌梗死（p = 0.007）相关。
FVL和PT G20210A基因型完全闭塞血管的患病率较高，这可能是动脉粥样硬化血栓形成事件的结果。然而，所研究的基因型均与死亡率无独立关联。
