Bragina Elena Yu, Goncharova Irina A, Garaeva Anna F, Nemerov Evgeniy V, Babovskaya Anastasija A, Karpov Andrey B, Semenova Yulia V, Zhalsanova Irina Z, Gomboeva Densema E, Saik Olga V, Zolotareva Olga I, Ivanisenko Vladimir A, Dosenko Victor E, Hofestaedt Ralf, Freidin Maxim B
Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.
Siberian State Medical University, Tomsk, Russia.
J Integr Bioinform. 2018 Dec 10;15(4):20180052. doi: 10.1515/jib-2018-0052.
Comorbidity, a co-incidence of several disorders in an individual, is a common phenomenon. Their development is governed by multiple factors, including genetic variation. The current study was set up to look at associations between isolated and comorbid diseases of bronchial asthma and hypertension, on one hand, and single nucleotide polymorphisms associated with regulation of gene expression (eQTL), on the other hand. A total of 96 eQTL SNPs were genotyped in 587 Russian individuals. Bronchial asthma alone was found to be associated with rs1927914 (TLR4), rs1928298 (intergenic variant), and rs1980616 (SERPINA1); hypertension alone was found to be associated with rs11065987 (intergenic variant); rs2284033 (IL2RB), rs11191582 (NT5C2), and rs11669386 (CARD8); comorbidity between asthma and hypertension was found to be associated with rs1010461 (ANG/RNASE4), rs7038716, rs7026297 (LOC105376244), rs7025144 (intergenic variant), and rs2022318 (intergenic variant). The results suggest that genetic background of comorbidity of asthma and hypertension is different from genetic backgrounds of both diseases manifesting isolated.
共病是指个体同时患有几种疾病的情况，是一种常见现象。其发展受多种因素影响，包括基因变异。本研究旨在探讨支气管哮喘和高血压的孤立性疾病与共病之间的关联，以及与基因表达调控相关的单核苷酸多态性（eQTL）之间的关联。对587名俄罗斯个体的96个eQTL单核苷酸多态性进行了基因分型。结果发现，单纯支气管哮喘与rs1927914（TLR4）、rs1928298（基因间变异）和rs1980616（SERPINA1）相关；单纯高血压与rs11065987（基因间变异）、rs2284033（IL2RB）、rs11191582（NT5C2）和rs11669386（CARD8）相关；哮喘和高血压的共病与rs1010461（ANG/RNASE4）、rs7038716、rs7026297（LOC105376244）、rs7025144（基因间变异）和rs2022318（基因间变异）相关。结果表明，哮喘和高血压共病的遗传背景不同于两种孤立性疾病的遗传背景。
