Shesternia P A, Nikulina S Iu, Shul'man V A, Martynova E A, Demkina A I, Orlov P S, Maksimov V N, Voevoda M I
krasnoyarsk State medical university of prof. V.F. Vojno-yasenetsky, ul. Partizana Zheleznyaka, 1, 660022 krasnoyarsk, russia.
Kardiologiia. 2013;53(7):4-8.
to investigate associations of single nucleotide polymorphisms (SNP) rs499818 (6p24.1), rs619203 of ROS1 gene (6q22), rs10757278 rs1333049 (9p21.3), rs2549513 (16q23.1), rs4804611 of ZNF627 gene (19p13.2) with myocardial infarction in subjects of young age. The group of patients with MI (n=99) aged less than 45 years and the control group (n=111) did not differ significantly by sex (=0,617), age (=0.291), arterial hypertension (=0.766), diabetes mellitus (=0.395), hypercholestolemia (=0.696), excessive body mass and obesity (=0.361), abdominal obesity (=0.831) and history of smoking (=0.400). There was significant difference between groups by burdened heredity (<0.001). Genomic DNA was obtained from venous blood by phenol-chloroform extraction. Genetic testing was performed by real time polymerase chain reaction using 7900HT Fast Real-Time PCR System according to manufacturers protocol. We found significant association between rs1333049 and rs10757278 and myocardial infarction (MI). Odds ratio (OR) of development of MI in carriers of risk allele rs1333049 was 2.4 (95% confidence interval [CI] 1.24 to 4.65), in carriers of G rs10757278 allele - 2.00 (95%CI 1.05 to 3.80). Association of risk alleles rs 1333049 and G rs10757278 with MI remained significant after adjustment for burdened family history (OR 4.25, 95%CI 1.39 to 12.99, and OR 3.04, 95%CI 1.09 to 8.52, respectively). Presence in the genotype of both risk alleles rs1333049 and G rs10757278 was associated with OR of MI development 2.40 (95%CI 1.20 to 4.82) which was not different from that associated with carriage of allele rs1333049 only. Possibly in our population both SNPs belong to one linkage block and correspondingly it is sufficient to genotype one SNP. No significant associations with MI were found for variants rs4804611, rs2549513, rs499818, rs619203. SNPs rs1333049 and rs10757278 of 9p21.3 locus are predictors of MI in young individuals not dependent on both traditional risk factors and presence of burdened family history.
研究单核苷酸多态性（SNP）rs499818（6p24.1）、ROS1基因的rs619203（6q22）、rs10757278、rs1333049（9p21.3）、rs2549513（16q23.1）、ZNF627基因的rs4804611（19p13.2）与年轻受试者心肌梗死的相关性。年龄小于45岁的心肌梗死患者组（n = 99）和对照组（n = 111）在性别（P = 0.617）、年龄（P = 0.291）、动脉高血压（P = 0.766）、糖尿病（P = 0.395）、高胆固醇血症（P = 0.696）、超重和肥胖（P = 0.361）、腹型肥胖（P = 0.831）及吸烟史（P = 0.400）方面无显著差异。两组在家族遗传负担方面存在显著差异（P<0.001）。通过酚 - 氯仿提取法从静脉血中获取基因组DNA。根据制造商的方案，使用7900HT Fast Real-Time PCR系统通过实时聚合酶链反应进行基因检测。我们发现rs1333049和rs10757278与心肌梗死（MI）之间存在显著关联。风险等位基因rs1333049携带者发生MI的优势比（OR）为2.4（95%置信区间[CI]1.24至4.65），G rs10757278等位基因携带者为2.00（95%CI 1.05至3.80）。在调整家族遗传负担后，风险等位基因rs1333049和G rs10757278与MI的关联仍然显著（OR分别为4.25，95%CI 1.39至12.99，以及OR 3.04，95%CI 1.09至8.52）。rs1333049和G rs10757278这两个风险等位基因同时存在于基因型中与MI发生的OR为2.40（95%CI 1.20至4.82），这与仅携带等位基因rs1333049时的情况无差异。在我们的人群中，这两个SNP可能属于一个连锁块，因此对一个SNP进行基因分型就足够了。未发现rs4804611、rs2549513、rs499818、rs619203变异与MI有显著关联。9p21.3位点的SNP rs1333049和rs10757278是年轻个体MI的预测指标，不依赖于传统风险因素和家族遗传负担的存在。
