International Multiconference “Bioinformatics of Genome Regulation and Structure\Systems Biology”

Tag

genetic polymorphism

4 RESULTS
Systems Biology and Biomedicine symposiumTowards a Comprehensive Catalog of Human Genes Associated with Main Forms of Pathozoospermia and its Functional Annotation

Towards a Comprehensive Catalog of Human Genes Associated with Main Forms of Pathozoospermia and its Functional Annotation

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Poster (download)

[pdf-embedder url=”https://bgrssb.icgbio.ru/wp-content/uploads/2020/07/58.pdf”]
Elena V. Ignatieva1, Alexander V. Osadchuk2, Maxim A Kleshev3, Ludmila V. Osadchuk4
1The Federal Research Center Institute of Cytology and Genetics, SB RAS, eignat@bionet.nsc.ru
2The Federal Research Center Institute of Cytology and Genetics, SB RAS, osadchuk@bionet.nsc.ru
3The Federal Research Center Institute of Cytology and Genetics, SB RAS, max82cll@bionet.nsc.ru
4The Federal Research Center Institute of Cytology and Genetics, SB RAS, losadch@bionet.nsc.ru

The genetic causes of the global decline in male fertility is among the hot spots of scientific research in reproductive genetics. The most common way to evaluate male fertility in clinical trials is to determine the quality of the ejaculate. A pathological condition characterized by lower quality indicators of the ejaculate compared to the norm and leading to impaired fertility is called pathozoospermia. Pathozoospermia is a syndrome that occurs in many diseases and can be caused by many factors, including genetic ones. To systematize information about genes associated with main forms of pathozoospermia, we created a catalog of such genes and analyzed their functional characteristics. On the basis of a manual analysis of scientific publications we collected data on 70 genes harboring more than one hundred allelic variants associated with pathozoospermia. Gene ontology enrichment analysis revealed that genes were significantly associated with spermatogenesis and male gamete generation. In addition it was found that genes from the catalog were associated with more than seventy human diseases that were both reproductive system pathologies and others, such as Parkinson\’s and Alzheimer\’s diseases as well as various cancer types.

Systems Biology of Aging sectionWay to longevity: role of antioxidant defense gene polymorphisms in successful adaptation

Way to longevity: role of antioxidant defense gene polymorphisms in successful adaptation

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Poster (download)

[pdf-embedder url=”https://bgrssb.icgbio.ru/wp-content/uploads/2020/07/156.pdf”]
Vera Erdman1, Timur Nasibullin2, Ilsia Tuktarova3, Ksenia Danilko4, Alisa Matua5, Tatiana Viktorova6, Olga Mustafina7
1IBG UFRC RAS, danivera@mail.ru
2IBG UFRC RAS, nasibullintr@yandex.ru
3IBG UFRC RAS, iltuk@mail.ru
4BSMU, kse-danilko@yandex.ru
5SRI EPT ASA, azmatua@mail.ru
6BSMU, t_vict@mail.ru
7IBG UFRC RAS, anmareg@mail.ru

We carried out the analysis of associations between polymorphic loci of antioxidant defense genes with ethnicity and longevity. We found the interethnic differences in the distribution of allele frequencies of SOD1, SOD2, CAT, NQO1 genes. For reaching longevity SOD1, SOD2, NQO1, GPX1 genes were significant among Russians, SOD2, РЎРђРў genes – among Tatars, MSRA, РЎРђРў genes – among Bashkirs.

Systems Biology and Biomedicine symposiumThe rs12255372 and rs7903146 polymorphisms of the TCF7L2 gene among Buryats and Russians of Eastern Siberia.

The rs12255372 and rs7903146 polymorphisms of the TCF7L2 gene among Buryats and Russians of Eastern Siberia.

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Poster (download)

[pdf-embedder url=”https://bgrssb.icgbio.ru/wp-content/uploads/2020/07/171.pdf”]
Ludmila Tabikhanova1, Ludmila Osipova2, Tatiana Churkina3, Daria Lichman4, Elena Voronina5, Maxim Filipenko6
1Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Science, Novosibirsk State University, tabikhan@bionet.nsc.ru
2Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Science, Novosibirsk State University, ludos77@yandex.ru
3Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Science, Novosibirsk State University, tan646464@gmail.com
4Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Science, Novosibirsk State University, daria.lichman@gmail.com
5Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk State University, voronina_l@mail.ru
6Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk State University, max@niboch.nsc.ru

The objective of the present study was to investigate the polymorphism of metabolism genes in indigenous populations of Siberia. To this end, we have studied the ethnic features of allele frequency distribution for polymorphic variants in gene TCF7L2 G103894T (rs12255372) and C53341T (rs7903146) in the samples taken from Buryats, and Russians of Eastern Siberia, and compared it with data on world populations. Samples of Eastern (N = 132) and Western (N = 278) Buryats, Russians (N = 122) and persons of mixed Buryat-Russian origin (N = 56) were genotyped by real-time PCR using competitive TaqMan- probes. Compared to the Russians, the Buryats showed a statistically significantly lower incidence of the TCF7L2 103894T and TCF7L2 53341T alleles associated with metabolic diseases and Type 2 diabetes mellitus (T2DM). Buryats are intermediate between Caucasian and East Asian populations. This agrees with the lower susceptibility of Buryats to metabolic disorders compared to the Caucasian population described in the literature. Intermediate frequencies alleles in the group of mixed origin may indicate a higher risk of the associated metabolic disorders in the descendants of mixed marriages compared to the Buryats.

Systems Biology and Biomedicine symposiumGenetic Polymorphism Associated with Infectious Pulmonary Diseases in Siberian Populations and Among Patients with Community Acquired Pneumonia

Genetic Polymorphism Associated with Infectious Pulmonary Diseases in Siberian Populations and Among Patients with Community Acquired Pneumonia

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Poster (download)

[pdf-embedder url=”https://bgrssb.icgbio.ru/wp-content/uploads/2020/07/192.pdf”]
Svetlama V. Mikhailova1
1ICG SB RAS, mikhail@bionet.nsc.ru

Innate immune system is the first to respond to pathogen invasion; it activates adaptive immunity and regulates the intensity of inflammation. Two single nucleotide polymorphisms of the innate immunity genes: rs5743708 of the TLR2 and rs8177374 of the TIRAP were shown to be associated with pneumonia and tuberculosis, but the data are contradictory in different ethnic groups. We assessed the prevalence of these variants in Caucasoid and Asian population samples, and among patients with community acquired pneumonia (CAP). Carriage of the rs5743708 A allele was found to be predisposed to severe CAP (OR=2.77, p=0.021), GG/CT genotype for rs5743708 / rs8177374 is proved to be protective against it (OR=0.478, p=0.022) in Caucasoid patients. Both Caucasoid and Asian studied populations were turn to be different from European and neighboring Asian populations on the genotypes prevalence. Differentiation of CAP by the causative pathogen could help to eliminate the currently observed contradictions between different research groups.