Ponomarenko Mikhail P, Arkova Olga, Rasskazov Dmitry, Ponomarenko Petr, Savinkova Ludmila, Kolchanov Nikolay
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia.
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences , Novosibirsk , Russia.
Front Immunol. 2016 Apr 4;7:130. doi: 10.3389/fimmu.2016.00130. eCollection 2016.
Some variations of human genome [for example, single nucleotide polymorphisms (SNPs)] are markers of hereditary diseases and drug responses. Analysis of them can help to improve treatment. Computer-based analysis of millions of SNPs in the 1000 Genomes project makes a search for SNP markers more targeted. Here, we combined two computer-based approaches: DNA sequence analysis and keyword search in databases. In the binding sites for TATA-binding protein (TBP) in human gene promoters, we found candidate SNP markers of gender-biased autoimmune diseases, including rs1143627 [cachexia in rheumatoid arthritis (double prevalence among women)]; rs11557611 [demyelinating diseases (thrice more prevalent among young white women than among non-white individuals)]; rs17231520 and rs569033466 [both: atherosclerosis comorbid with related diseases (double prevalence among women)]; rs563763767 [Hughes syndrome-related thrombosis (lethal during pregnancy)]; rs2814778 [autoimmune diseases (excluding multiple sclerosis and rheumatoid arthritis) underlying hypergammaglobulinemia in women]; rs72661131 and rs562962093 (both: preterm delivery in pregnant diabetic women); and rs35518301, rs34166473, rs34500389, rs33981098, rs33980857, rs397509430, rs34598529, rs33931746, rs281864525, and rs63750953 (all: autoimmune diseases underlying hypergammaglobulinemia in women). Validation of these predicted candidate SNP markers using the clinical standards may advance personalized medicine.
人类基因组的一些变异[例如，单核苷酸多态性（SNP）]是遗传性疾病和药物反应的标志物。对它们的分析有助于改善治疗。在千人基因组计划中基于计算机对数百万个SNP进行分析，使得寻找SNP标志物更具针对性。在此，我们结合了两种基于计算机的方法：DNA序列分析和数据库关键词搜索。在人类基因启动子中TATA结合蛋白（TBP）的结合位点，我们发现了性别偏向性自身免疫性疾病的候选SNP标志物，包括rs1143627[类风湿性关节炎恶病质（女性中患病率翻倍）]；rs11557611[脱髓鞘疾病（年轻白人女性中的患病率是非白人个体的三倍）]；rs17231520和rs569033466[两者：与相关疾病共患的动脉粥样硬化（女性中患病率翻倍）]；rs563763767[与休斯综合征相关的血栓形成（孕期致死）]；rs2814778[女性高球蛋白血症潜在的自身免疫性疾病（不包括多发性硬化症和类风湿性关节炎）]；rs72661131和rs562962093（两者：妊娠糖尿病女性的早产）；以及rs35518301、rs34166473、rs34500389、rs33981098、rs33980857、rs397509430、rs34598529、rs33931746、rs281864525和rs63750953（所有：女性高球蛋白血症潜在的自身免疫性疾病）。使用临床标准对这些预测的候选SNP标志物进行验证可能会推动个性化医疗的发展。
