Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia
The innate Iнн\mmune system is the first to respond to invading pathogens. It is responsible for invader recognition, immune-cell recruitment, adaptive-immunity activation, and regulation of inflammation intensity. Previously, two single-nucleotide polymorphisms of innate-immunity genes – rs5743708...
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Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
2021-06-01
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| Series: | Вавиловский журнал генетики и селекции |
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| Online Access: | https://vavilov.elpub.ru/jour/article/view/3013 |
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| author | S. V. Mikhailova L. V. Shcherbakova N. I. Logvinenko I. I. Logvinenko M. I. Voevoda |
| author_facet | S. V. Mikhailova L. V. Shcherbakova N. I. Logvinenko I. I. Logvinenko M. I. Voevoda |
| author_sort | S. V. Mikhailova |
| collection | DOAJ |
| description | The innate Iнн\mmune system is the first to respond to invading pathogens. It is responsible for invader recognition, immune-cell recruitment, adaptive-immunity activation, and regulation of inflammation intensity. Previously, two single-nucleotide polymorphisms of innate-immunity genes – rs5743708 (Arg753Gln) of the TLR2 gene and rs8177374 (Ser180Leu) of the TIRAP gene – have been shown to be associated with both pneumonia and tuberculosis in humans, but the data are contradictory among different ethnic groups. It has also been reported that rs10902158 at the PKP3-SIGGIR-TMEM16J genetic locus belongs to a haplotype race-specifically associated with tuberculosis. Meanwhile, a gradient of its frequency is observed in Asia. The aim of this work was to assess the effect of selection for the genotypes of the above-mentioned SNPs on the gene pools of populations living in harsh climatic conditions that contribute to the development of infectious lung diseases. We estimated the prevalence of these variants in white and Asian (Chukchis and Yakuts) population samples from Northern Asia and among patients with community-acquired pneumonia (CAP). Carriage of the rs5743708 A allele was found to predispose to severe CAP (odds ratio 2.77, p = 0.021), whereas the GG/CT genotype of rs5743708/rs8177374 proved to be protective against it (odds ratio 0.478, p = 0.022) in white patients. No association of rs10902158 with CAP (total or severe) was found among whites. Stratification of CAP by causative pathogen may help eliminate the current discrepancies between different studies. No significant difference in rs5743708 or rs8177374 was found between adolescent and long-lived white samples. Carriage of the alleles studied is probably not associated with predisposition to longevity among whites in Siberia. Both white and Asian populations studied were different from Western European and East Asian populations in the variants’ prevalence. The frequency of the rs8177374 T (Ser180Leu) variant was significantly higher in the Chukchi sample (p = 0, χ2 = 63.22) relative to the East Asian populations. This result may confirm the hypothesis about the selection of this allele in the course of human migration into areas with unfavorable climatic conditions. |
| format | Article |
| id | doaj-art-0198774aa51d44c7b53459bebeb888c1 |
| institution | Kabale University |
| issn | 2500-3259 |
| language | English |
| publishDate | 2021-06-01 |
| publisher | Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders |
| record_format | Article |
| series | Вавиловский журнал генетики и селекции |
| spelling | doaj-art-0198774aa51d44c7b53459bebeb888c12025-02-01T09:58:10ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592021-06-0125330130910.18699/VJ21.51-o1160Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumoniaS. V. Mikhailova0L. V. Shcherbakova1N. I. Logvinenko2I. I. Logvinenko3M. I. Voevoda4Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наукInstitute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of SciencesNovosibirsk State Medical UniversityInstitute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences; Novosibirsk State Medical UniversityФедеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наукThe innate Iнн\mmune system is the first to respond to invading pathogens. It is responsible for invader recognition, immune-cell recruitment, adaptive-immunity activation, and regulation of inflammation intensity. Previously, two single-nucleotide polymorphisms of innate-immunity genes – rs5743708 (Arg753Gln) of the TLR2 gene and rs8177374 (Ser180Leu) of the TIRAP gene – have been shown to be associated with both pneumonia and tuberculosis in humans, but the data are contradictory among different ethnic groups. It has also been reported that rs10902158 at the PKP3-SIGGIR-TMEM16J genetic locus belongs to a haplotype race-specifically associated with tuberculosis. Meanwhile, a gradient of its frequency is observed in Asia. The aim of this work was to assess the effect of selection for the genotypes of the above-mentioned SNPs on the gene pools of populations living in harsh climatic conditions that contribute to the development of infectious lung diseases. We estimated the prevalence of these variants in white and Asian (Chukchis and Yakuts) population samples from Northern Asia and among patients with community-acquired pneumonia (CAP). Carriage of the rs5743708 A allele was found to predispose to severe CAP (odds ratio 2.77, p = 0.021), whereas the GG/CT genotype of rs5743708/rs8177374 proved to be protective against it (odds ratio 0.478, p = 0.022) in white patients. No association of rs10902158 with CAP (total or severe) was found among whites. Stratification of CAP by causative pathogen may help eliminate the current discrepancies between different studies. No significant difference in rs5743708 or rs8177374 was found between adolescent and long-lived white samples. Carriage of the alleles studied is probably not associated with predisposition to longevity among whites in Siberia. Both white and Asian populations studied were different from Western European and East Asian populations in the variants’ prevalence. The frequency of the rs8177374 T (Ser180Leu) variant was significantly higher in the Chukchi sample (p = 0, χ2 = 63.22) relative to the East Asian populations. This result may confirm the hypothesis about the selection of this allele in the course of human migration into areas with unfavorable climatic conditions.https://vavilov.elpub.ru/jour/article/view/3013community-acquired pneumoniapulmonary tuberculosisgenetic predispositiongenetic polymorphismtlr2tirappkp3-siggir-tmem16jlong-lived people |
| spellingShingle | S. V. Mikhailova L. V. Shcherbakova N. I. Logvinenko I. I. Logvinenko M. I. Voevoda Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia Вавиловский журнал генетики и селекции community-acquired pneumonia pulmonary tuberculosis genetic predisposition genetic polymorphism tlr2 tirap pkp3-siggir-tmem16j long-lived people |
| title | Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia |
| title_full | Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia |
| title_fullStr | Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia |
| title_full_unstemmed | Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia |
| title_short | Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia |
| title_sort | polymorphism of genes associated with infectious lung diseases in northern asian populations and in patients with community acquired pneumonia |
| topic | community-acquired pneumonia pulmonary tuberculosis genetic predisposition genetic polymorphism tlr2 tirap pkp3-siggir-tmem16j long-lived people |
| url | https://vavilov.elpub.ru/jour/article/view/3013 |
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