Brain Neurobiology and Neurogenetics Center, Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10 Lavrentyev Ave, Novosibirsk, 630090, Russia.
Novosibirsk State University, Novosibirsk, 630090, Russia.
BMC Genomics. 2018 Feb 9;19(Suppl 3):0. doi: 10.1186/s12864-018-4478-3.
The progress of medicine, science, technology, education, and culture improves, year by year, quality of life and life expectancy of the populace. The modern human has a chance to further improve the quality and duration of his/her life and the lives of his/her loved ones by bringing their lifestyle in line with their sequenced individual genomes. With this in mind, one of genome-based developments at the junction of personalized medicine and bioinformatics will be considered in this work, where we used two Web services: (i) SNP_TATA_Comparator to search for alleles with a single nucleotide polymorphism (SNP) that alters the affinity of TATA-binding protein (TBP) for the TATA boxes of human gene promoters and (ii) PubMed to look for retrospective clinical reviews on changes in physiological indicators of reproductive potential in carriers of these alleles.
A total of 126 SNP markers of female reproductive potential, capable of altering the affinity of TBP for gene promoters, were found using the two above-mentioned Web services. For example, 10 candidate SNP markers of thrombosis (e.g., rs563763767) can cause overproduction of coagulation inducers. In pregnant women, Hughes syndrome provokes thrombosis with a fatal outcome although this syndrome can be diagnosed and eliminated even at the earliest stages of its development. Thus, in women carrying any of the above SNPs, preventive treatment of this syndrome before a planned pregnancy can reduce the risk of death. Similarly, seven SNP markers predicted here (e.g., rs774688955) can elevate the risk of myocardial infarction. In line with Bowles' lifespan theory, women carrying any of these SNPs may modify their lifestyle to improve their longevity if they can take under advisement that risks of myocardial infarction increase with age of the mother, total number of pregnancies, in multiple pregnancies, pregnancies under the age of 20, hypertension, preeclampsia, menstrual cycle irregularity, and in women smokers.
According to Bowles' lifespan theory-which links reproductive potential, quality of life, and life expectancy-the above information was compiled for those who would like to reduce risks of diseases corresponding to alleles in own sequenced genomes. Candidate SNP markers can focus the clinical analysis of unannotated SNPs, after which they may become useful for people who would like to bring their lifestyle in line with their sequenced individual genomes.
医学、科学、技术、教育和文化的进步逐年提高了民众的生活质量和预期寿命。现代人有机会通过使自己的生活方式与测序个体基因组保持一致,进一步提高自己和亲人的生活质量和寿命。考虑到这一点,这项工作将考虑个性化医学和生物信息学交叉点的基于基因组的发展之一,我们使用了两个 Web 服务:(i)SNP_TATA_Comparator 来搜索具有单核苷酸多态性(SNP)的等位基因,该 SNP 改变了 TATA 结合蛋白(TBP)与人类基因启动子 TATA 盒的亲和力,以及(ii)PubMed 查找有关这些等位基因携带者的生殖潜力生理指标变化的回顾性临床评论。
使用上述两个 Web 服务总共发现了 126 个女性生殖潜力的 SNP 标记物,这些 SNP 标记物能够改变 TBP 对基因启动子的亲和力。例如,10 个血栓形成的候选 SNP 标记物(例如 rs563763767)可导致凝血诱导物的过度产生。在孕妇中,即使在其早期发展阶段也可以诊断和消除 Hughes 综合征,但该综合征仍会引起血栓形成,导致致命后果。因此,在携带上述任何 SNP 的女性中,在计划怀孕前对该综合征进行预防性治疗可以降低死亡风险。同样,这里预测的七个 SNP 标记物(例如 rs774688955)可以增加心肌梗死的风险。根据 Bowles 的寿命理论,如果携带这些 SNP 中的任何一个的女性可以考虑修改自己的生活方式以延长寿命,因为她们可以考虑到心肌梗死的风险会随着母亲的年龄、怀孕总数、多胎妊娠、20 岁以下怀孕、高血压、子痫前期、月经周期不规律以及女性吸烟者的增加而增加。
根据 Bowles 的寿命理论——将生殖潜力、生活质量和预期寿命联系起来——为那些希望降低与自身测序基因组中等位基因相对应的疾病风险的人提供了上述信息。候选 SNP 标记物可以集中对未注释 SNP 的临床分析,之后它们可能对希望使自己的生活方式与测序个体基因组保持一致的人有用。