Verification of Single Nucleotide Polymorphisms rs34554140, rs6670279, and rs6874185 as Novel Molecular Genetic Markers of Sudden Cardiac Death.

IF 1.1 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
A A Ivanova, A A Gurazheva, E S Melnikova, A M Nesterets, S K Malyutina, I A Rodina, V N Maksimov
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引用次数: 0

Abstract

The aim of the study was to explore the association between sudden cardiac death (SCD) and single nucleotide polymorphisms (SNPs) rs34554140, rs6670279, and rs6874185 from the list of potential molecular genetic markers of SCD, obtained in our earlier genome-wide allelotyping on pooled DNA samples.

Materials and methods: The study is based on the case-control principle. The SCD group included 438 deceased residents of Novosibirsk (average age - 53.2±9.1 years; men - 72.7%, women - 28.3%) with the main postmortem diagnoses of acute circulatory failure or acute coronary failure, which met the criteria of SCD established by the European Society of Cardiology. The control group included 435 live subjects enrolled in the international projects HAPIEE and MONICA (average age - 53.2±8.9 years; men - 70.0%, women - 30.0%). DNA was isolated by phenol-chloroform extraction from the myocardial tissue in the SCD group and from the venous blood in the control group. Genotyping was performed by polymerase chain reaction with subsequent analysis of restriction fragment length polymorphism in a polyacrylamide gel.

Results: The frequencies of the genotypes of SNPs rs34554140, rs6670279, and rs6874185 in the control group correspond to those predicted by the Hardy-Weinberg equilibrium (c2=0.98, 0.009, 3.39, respectively). The AA genotype of rs34554140 is associated with an increased risk of SCD (p=0.002; OR=1.85; 95% CI 1.26-2.71). The AT genotype has a protective effect against SCD (p=0.001; OR=0.53; 95% CI 0.36-0.78). In subgroups separated by gender and age, the differences persist in the subgroups of men, women, and individuals under 50 years old (p<0.05). The AA genotype of rs6670279 is associated with an increased risk of SCD (p=0.005; OR=1.54; 95% CI 1.15-2.06). The AT genotype has a protective effect against SCD (p=0.047; OR=0.73; 95% CI 0.54-0.98). When distributed by sex and age, the differences persist in the subgroups of men, individuals above 50 years old, and men above 50 years old (p<0.05). There were no significant differences in the frequencies of genotypes and alleles of rs6874185 between the SCD and control groups, even after the subgroups specified by gender and age were compared (p>0.05).

Conclusion: The association of single nucleotide polymorphisms rs34554140 and rs6670279 with SCD was confirmed. In contrast, no association of rs6874185 with SCD was detected.

Abstract Image

单核苷酸多态性rs34554140、rs6670279和rs6874185作为心源性猝死新分子遗传标记的验证
本研究的目的是探讨心源性猝死(SCD)与单核苷酸多态性(snp) rs34554140、rs6670279和rs6874185之间的关系,这些snp来自我们早期对汇总DNA样本进行全基因组等位型分析获得的潜在SCD分子遗传标记列表。材料与方法:本研究采用病例对照原则。SCD组包括438名新西伯利亚已故居民(平均年龄- 53.2±9.1岁;男性72.7%,女性28.3%),主要死后诊断为急性循环衰竭或急性冠状动脉衰竭,符合欧洲心脏病学会制定的SCD标准。对照组纳入国际项目HAPIEE和MONICA的435名活体受试者(平均年龄- 53.2±8.9岁;男性- 70.0%,女性- 30.0%)。采用苯酚-氯仿萃取法分别从SCD组心肌组织和对照组静脉血中提取DNA。通过聚合酶链反应进行基因分型,随后在聚丙烯酰胺凝胶中分析限制性内切片段长度多态性。结果:对照组中rs34554140、rs6670279和rs6874185基因型频率与Hardy-Weinberg平衡预测频率一致(c2分别为0.98、0.009和3.39)。rs34554140的AA基因型与SCD风险增加相关(p=0.002;或= 1.85;95% ci 1.26-2.71)。AT基因型对SCD有保护作用(p=0.001;或= 0.53;95% ci 0.36-0.78)。在按性别和年龄划分的亚组中,男性、女性和50岁以下个体的亚组存在差异(p0.05)。结论:证实单核苷酸多态性rs34554140和rs6670279与SCD存在关联。相反,没有检测到rs6874185与SCD的关联。
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来源期刊
Sovremennye Tehnologii v Medicine
Sovremennye Tehnologii v Medicine MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
1.80
自引率
0.00%
发文量
38
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