Genetic polymorphisms and related risk factors of ischemic stroke in a Mongolian population in China

Abstract

Ишемический инсульт, вызванный прерыванием потока крови в мозг, представляет серьезную медицинскую проблему, являясь фактором риска смерти и потери трудоспособности. Недавние исследования геномных ассоциаций (genome-wide association studies -GWAS) определили более 40 общих вари-антов геномных последовательностей, связанных с ишемиче-ским инсультом. Однако результаты не могут быть одинаково применимы для различных мировых популяций. В данной ра-боте мы рассматриваем гипотезу о том, что население Север-ной Азии, живущее в суровых условиях окружающей среды, может иметь уникальный спектр генов риска развития заболе-ваний сердечно-сосудистой системы. Исследованы гены-кан-дидаты предрасположенности к ишемическому инсульту в по -пуляции монголов Китая, которая не была изучена ранее. В ис-следование были включены в общей сложности 167 больных с инсультом и 176 здоровых лиц. Генотипирование выполне-но с помощью секвенирования ампликонов. Обнаружена ассоциация развития ишемического инсульта с одиночными нуклеотидными полиморфизмами в генах NINJ2 (rs12425791) и ALDH2 (rs2238151), а также в межгенном участке rs9536591. Среди генов-кандидатов наибольший вклад в развитие ин-сульта вносит NINJ2 (rs12425791). Ген ALDH2 кодирует митохон-дриальный фермент альдегиддегидрогеназу, вовлеченную в оксида тивный путь метаболизма алкоголя. Пол, возраст, индекс массы тела и высокое кровяное давление также могут быть факто рами риска. Данная работа показала существующую гетеро генность между китайской и другими популяционными выбор ками. Наше исследование предлагает новый взгляд на взаимо действие генотипа и факторов окружающей среды при развитии ишемического инсульта в монгольском населении.Ключевые слова: популяционная генетика; геном человека; однонуклеотидные замены; монгольская популяция Китая; ишемический инсульт. Ischemic stroke is caused by an interruption in the flow of blood to the brain and a risk factor for death and disability. Recent genome-wide association studies have identified more than 40 common sequence variants associated with ischemic stroke. however, the results are not always the same in populations with different genetic backgrounds. In the present study, we evaluated a hypothesis that a North Asian population living in a geographic area with unusually harsh environmental conditions would develop unique genetic risks. We investigated the candidate genes for ischemic stroke and risk factors in a Chinese Mongolian population which has not been explored previously. A total of 167 stroke cases and 176 controls were included in the study. Genotyping was performed by amplicon sequencing. The association was detected with single nucleotide polymorphisms (SNPs) located within genes NINJ2 (rs12425791) and ALDH2 (rs2238151) as well as intergenic rs9536591 were significantly associated with ischemic stroke, of which SNP rs12425791 of the NINJ2 gene was the strongest association. ALDH2 gene encodes mitochondrial aldehyde dehydrogenase, involved in the oxidative pathway of alcohol metabolism. Sex, age, body mass index and high ...

The Characteristics of Mirna Binding Sites in Mrna of Zfhx3 Gene and Its Orthologs

“…The characteristics of miRNA binding sites in mRNA of ZFHX3 gene and its orthologs S ome genes have been identified in stroke and they are considered as candidates to determine various subtypes of stroke (Mineharu et al, 2006;Kurzepa et al, 2014;Inose et al, 2015;Wu et al, 2017). These include the ZFHX3 gene encoding the transcription factor involved in the regulation of expression of many genes.…”

Variant Rs556621 on Chromosome 6p21.1 and the Risk of Ischemic Stroke in Chinese Populations: A Meta-Analysis

“… 14 , 15 , 22 – 26 All study designs were case-control. There were six studies in Chinese Han, 14 , 15 , 22 , 24 – 26 and four in other Chinese ethnic populations 14 , 22 , 23 , 26 which were sorted into a miscellaneous group ( Table 1 ).…”

“…We first included nine studies except the study of Wu et al, 23 for we only obtained the allele data, not genotype data, from this study. Later, we included this study in the additive model.…”

“…14,15,[22][23][24][25][26] All study designs were case-control. There were six studies in Chinese Han, 14,15,22,[24][25][26] and four in other Chinese ethnic populations 14,22,23,26 which were sorted into a miscellaneous group (Table 1). We first included nine studies except the study of Wu et al, 23 for we only obtained the allele data, not genotype data, from this study.…”

Bioinformatics of genome regulation and structure – 2020 papers collection

“…Overall focus of the conference was on the analysis of gene expression regulation in a genome on systems level – such as gene networks and systems biology models [ 9 ]. The authors were co-organizers of BGRS meetings and later satellite society meetings on bioinformatics, such as Russian-German Virtual Bioinformatics Network, Sino-Russian workshops on bioinformatics [ 10 ] ( http://www.zjbioinformatics.org/meetings/2020/index.html ; http://glab.hzau.edu.cn/BioInfo/index.html ). We had publications in special topic issues after the earlier conferences before in BMC Genetics [ 11 ], BMC Medical Genomics, Journal of Bioinformatics and Computational Biology [ 11 ], [ 12 ], [ 13 ] and Frontiers in Genetics [ 2 ] and related special journal issues [ 14 ] since 2012.…”