Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study
Although there has been great progress in understanding the genetic bases of ischemic stroke (IS), many of its aspects remain underexplored. These include the genetics of outcomes, as well as problems with the identification of real causative loci and their functional annotations. Therefore, analysi...
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MDPI AG
2021-11-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/12/1938 |
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| author | Andrey V. Khrunin Gennady V. Khvorykh Alexandra V. Rozhkova Evgeniya A. Koltsova Elizaveta A. Petrova Ekaterina I. Kimelfeld Svetlana A. Limborska |
| author_facet | Andrey V. Khrunin Gennady V. Khvorykh Alexandra V. Rozhkova Evgeniya A. Koltsova Elizaveta A. Petrova Ekaterina I. Kimelfeld Svetlana A. Limborska |
| author_sort | Andrey V. Khrunin |
| collection | DOAJ |
| description | Although there has been great progress in understanding the genetic bases of ischemic stroke (IS), many of its aspects remain underexplored. These include the genetics of outcomes, as well as problems with the identification of real causative loci and their functional annotations. Therefore, analysis of the results obtained from animal models of brain ischemia could be helpful. We have developed a bioinformatic approach exploring single nucleotide polymorphisms (SNPs) in human orthologues of rat genes expressed differentially under conditions of induced brain ischemia. Using this approach, we identified and analyzed nine SNPs in 553 Russian individuals (331 patients with IS and 222 controls). We explored the association of SNPs with both IS outcomes and with the risk of IS. SNP rs66782529 (<i>LGALS3</i>) was associated with negative IS outcomes (<i>p</i> = 0.048). SNPs rs62278647 and rs2316710 (<i>PTX3</i>) were associated significantly with IS (<i>p</i> = 0.000029 and <i>p</i> = 0.0025, respectively). These correlations for rs62278647 and rs2316710 were found only in women, which suggests a sex-specific association of the <i>PTX3</i> polymorphism. Thus, this research not only reveals some new genetic associations with IS and its outcomes but also shows how exploring variations in genes from a rat model of brain ischemia can be of use in searching for human genetic markers of this disorder. |
| first_indexed | 2024-03-10T04:02:13Z |
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| id | doaj.art-39ff9fcccf954a84b8563b0fb0abed47 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T04:02:13Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-39ff9fcccf954a84b8563b0fb0abed472023-11-23T08:30:38ZengMDPI AGGenes2073-44252021-11-011212193810.3390/genes12121938Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot StudyAndrey V. Khrunin0Gennady V. Khvorykh1Alexandra V. Rozhkova2Evgeniya A. Koltsova3Elizaveta A. Petrova4Ekaterina I. Kimelfeld5Svetlana A. Limborska6Institute of Molecular Genetics of National Research Center “Kurchatov Institute”, Kurchatov Sq. 2, 123182 Moscow, RussiaInstitute of Molecular Genetics of National Research Center “Kurchatov Institute”, Kurchatov Sq. 2, 123182 Moscow, RussiaInstitute of Molecular Genetics of National Research Center “Kurchatov Institute”, Kurchatov Sq. 2, 123182 Moscow, RussiaDepartment of Neurology, Neurosurgery and Medical Genetics, Pirogov Russian National Research Medical University, 117997 Moscow, RussiaDepartment of Neurology, Neurosurgery and Medical Genetics, Pirogov Russian National Research Medical University, 117997 Moscow, RussiaDepartment of Neurology, Neurosurgery and Medical Genetics, Pirogov Russian National Research Medical University, 117997 Moscow, RussiaInstitute of Molecular Genetics of National Research Center “Kurchatov Institute”, Kurchatov Sq. 2, 123182 Moscow, RussiaAlthough there has been great progress in understanding the genetic bases of ischemic stroke (IS), many of its aspects remain underexplored. These include the genetics of outcomes, as well as problems with the identification of real causative loci and their functional annotations. Therefore, analysis of the results obtained from animal models of brain ischemia could be helpful. We have developed a bioinformatic approach exploring single nucleotide polymorphisms (SNPs) in human orthologues of rat genes expressed differentially under conditions of induced brain ischemia. Using this approach, we identified and analyzed nine SNPs in 553 Russian individuals (331 patients with IS and 222 controls). We explored the association of SNPs with both IS outcomes and with the risk of IS. SNP rs66782529 (<i>LGALS3</i>) was associated with negative IS outcomes (<i>p</i> = 0.048). SNPs rs62278647 and rs2316710 (<i>PTX3</i>) were associated significantly with IS (<i>p</i> = 0.000029 and <i>p</i> = 0.0025, respectively). These correlations for rs62278647 and rs2316710 were found only in women, which suggests a sex-specific association of the <i>PTX3</i> polymorphism. Thus, this research not only reveals some new genetic associations with IS and its outcomes but also shows how exploring variations in genes from a rat model of brain ischemia can be of use in searching for human genetic markers of this disorder.https://www.mdpi.com/2073-4425/12/12/1938single nucleotide polymorphismsischemic strokeischemic stroke outcomerat model of brain ischemia |
| spellingShingle | Andrey V. Khrunin Gennady V. Khvorykh Alexandra V. Rozhkova Evgeniya A. Koltsova Elizaveta A. Petrova Ekaterina I. Kimelfeld Svetlana A. Limborska Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study Genes single nucleotide polymorphisms ischemic stroke ischemic stroke outcome rat model of brain ischemia |
| title | Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study |
| title_full | Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study |
| title_fullStr | Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study |
| title_full_unstemmed | Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study |
| title_short | Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study |
| title_sort | examination of genetic variants revealed from a rat model of brain ischemia in patients with ischemic stroke a pilot study |
| topic | single nucleotide polymorphisms ischemic stroke ischemic stroke outcome rat model of brain ischemia |
| url | https://www.mdpi.com/2073-4425/12/12/1938 |
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