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1.
Scand J Immunol ; 97(3): e13249, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36574978

RESUMO

Herewith, we provide novel original data about the prevalence of FCN3 rs532781899 and MASP2 rs72550870 variants among the newborns of aboriginal Siberian Arctic populations (Nenets and Dolgan-Nganasans) and Russians of East Siberia. This novel data has been analysed along with the genetic data about other proteins of the lectin pathway of the complement system (mannose-binding lectin and ficolin-2) obtained earlier. A total of 926 specimens of dried blood spots of the newborns were genotyped. The newborns represented four populations: Nenets, Dolgan-Nganasans, Mixed aboriginal population, and Russians (Caucasians) to study the prevalence of single nucleotide polymorphisms of FCN3 rs532781899 and MASP2 rs72550870. The prevalence of the deletion allele of the rs532781899 variant in the FCN3 gene associated with the decreased production of ficolin-3 was found to be increased in Russians compared to the Nenets aboriginal populations (P = .002). The prevalence of the rs72550870*G allele in the MASP2 gene associated with low serum protease activity was found to be increased in Russians compared with Nenets and Dolgan-Nganasans (P < .001 and P = .03, respectively). The results of the current study and our previous findings corroborate with a hypothesis that human evolution has been directed toward the accumulation of genotypes associated with low activity of the lectin complement activation pathway.


Assuntos
Lectina de Ligação a Manose da Via do Complemento , Lectinas , Serina Proteases Associadas a Proteína de Ligação a Manose , Humanos , Recém-Nascido , Genótipo , Lectinas/genética , Lectina de Ligação a Manose , Serina Proteases Associadas a Proteína de Ligação a Manose/metabolismo , Ficolinas
2.
Immunogenetics ; 72(6-7): 347-354, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32813045

RESUMO

Mannose-binding lectin (MBL) encoded by MBL2 gene is a protein with the ability to form carbohydrate complexes with microbial wall promoting their subsequent elimination. Genetically determined levels of MBL can modify the risk and clinical characteristics of many infectious diseases. The frequency of MBL2 genotypes exhibits significant population differences. The data on the distribution of MBL2 genotypes among the aborigines of the Russian Arctic territories have not yet been published. A total of 880 specimens of dried blood spots of the newborns were genotyped. The newborns represented four populations: Nenets, Dolgan-Nganasans, Mixed aboriginal population, and Russians (Caucasians, Krasnoyarsk). Six polymorphisms of the MBL2 gene were studied: rs11003125, rs7096206, rs7095891, rs5030737, rs1800450, and rs1800451. The frequency of the combined rare O allele (composed of the coding region variants rs5030737, rs1800450, and rs1800451) in the homozygous state was significantly higher in Russians: 10% vs 2% in Nenets and 1% in Dolgan-Nganosans (p < 0.001 for Russians vs other populations). The frequency of the high-producing haplotype (HYPA) was 35.4% in the Russian newborns, in keeping with European populations (27-33%); 64% for Nenets and 56% for Dolgan-Nganasans, similar to the estimates obtained for Eskimos and North Amerinds (64-81%). Our study results are in line with the hypothesis that human evolution has been moving in the direction of accumulation of the genotypes associated with low activity of the lectin complement activation pathway because of the prevalence of some intracellular infections such as tuberculosis, whereby low MBL activity may have a protective effect.


Assuntos
Etnicidade/genética , Predisposição Genética para Doença , Genética Populacional , Lectina de Ligação a Manose/genética , Polimorfismo de Nucleotídeo Único , Alelos , Regiões Árticas , Genótipo , Haplótipos , Humanos , Federação Russa , Sibéria
3.
Immunogenetics ; 69(6): 409-413, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28391359

RESUMO

L-ficolin encoded by FCN2 gene is a crucial factor of defence against infection in humans. We studied the prevalence of the two common variants (rs17549193 and rs7851696) in aboriginal and alien populations of the Taymyr-Dolgan-Nenets region of Krasnoyarskiy Kray, East Siberia, Russia (Nenets, Dolgans, Nganasans, Russians). We found a decreased prevalence of the rs17549193*T allele in all aboriginal populations as compared to Russians. Also, its frequency was the lowest in the Nenets among the studied populations, while frequency of the rs7851696*T allele was increased in this population. The results suggest that the Arctic populations of East Siberia are characterised by specificity of genetic make-up responsible for the activity of L-ficolin. Clinical and epidemiological studies are required to discover if these genetic features correlate with the infant infectious morbidity in East Siberian populations.


Assuntos
Variação Genética , Genética Populacional , Lectinas/genética , Alelos , Regiões Árticas , Frequência do Gene , Ordem dos Genes , Genótipo , Humanos , Recém-Nascido , Razão de Chances , Polimorfismo de Nucleotídeo Único , Sibéria , Ficolinas
4.
World J Psychiatry ; 13(5): 160-173, 2023 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-37303928

RESUMO

Problematic social media use (PSMU) is a behavioral addiction, a specific form of problematic Internet use associated with the uncontrolled use of social networks. It is typical mostly for modern adolescents and young adults, which are the first generations fully grown up in the era of total digitalization of society. The modern biopsychosocial model of the formation of behavioral addictions, postulating the impact of a large number of biological, psychological, and social factors on addictive behavior formation, may be quite applicable to PSMU. In this narrative review, we discussed neurobiological risk factors for Internet addiction with a focus on current evidence on the association between PSMU and structural/ functional characteristics of the brain and autonomic nervous system, neurochemical correlations, and genetic features. A review of the literature shows that the vast majority of the mentioned neurobiological studies were focused on computer games addiction and generalized Internet addiction (without taking into account the consumed content). Even though a certain number of neuroimaging studies have been conducted for PSMU, there is practically no research on neuropeptide and genetic associations for PSMU to date. This fact points to the extremely high relevance of such studies.

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