The role of inflammatory system genes in individual differences in nonverbal intelligence

Nonverbal intelligence represents one of the components of brain cognitive functions, which uses visual images and nonverbal approaches for solving required tasks. Interaction between the nervous and immune systems plays a specif ic role in individual differences in brain cognitive functions. Therefore, the genes encoding pro- and antiinf lammatory cytokines are prospective candidate genes in the study of nonverbal intelligence. Within the framework of the present study, we conducted the association analysis of six SNPs in the genes that encode proteins involved in inf lammatory response regulation in the central nervous system (CRP rs3093077, IL1А rs1800587, IL1B rs16944, TNF/ LTA rs1041981, rs1800629, and P2RX7 rs2230912), with nonverbal intelligence in mentally healthy young adults aged 18– 25 years without cognitive decline with inclusion of sex, ethnicity and the presence of the “risky” APOE ε4 allele as covariates. Considering an important role of environmental factors in the development of brain cognitive functions in general and nonverbal intelligence in particular, we conducted an analysis of gene-by-environment (G × E) interactions. As a result of a statistical analysis, rs1041981 and rs1800629 in the tumor necrosis factor gene (TNF) were shown to be associated with a phenotypic variance in nonverbal intelligence at the haplotype level (for АА-haplotype: βST = 1.19; p = 0.033; pperm = 0.047) in carriers of the “risky” APOE ε4 allele. Gene-by-environment interaction models, which determined interindividual differences in nonverbal intelligence, have been constructed: sibship size (number of children in a family) and smoking demonstrated a modulating effect on association of the TNF/LTA (rs1041981) (β = 2.08; βST = 0.16; p = 0.001) and P2RX7 (rs2230912) (β = –1.70; βST = –0.10; p = 0.022) gene polymorphisms with nonverbal intelligence. The data obtained indicate that the effect of TNF/LTA on the development of cognitive functions is evident only in the presence of the “unfavorable” APOE ε4 variant and/or certain environmental conditions

The role of the KIBRA and APOE genes in developing spatial abilities in humans

In the contemporary high-tech society, spatial abilities predict individual life and professional success, especially in the STEM (Science, Technology, Engineering, and Mathematics) disciplines. According to neurobiological hypotheses, individual differences in cognitive abilities may be attributed to the functioning of genes involved in the regulation of neurogenesis and synaptic plasticity. In addition, genome-wide association studies identified rs17070145 located in the KIBRA gene, which was associated with individual differences in episodic memory. Considering a significant role of genetic and environmental components in cognitive functioning, the present study aimed to estimate the main effect of NGF (rs6330), NRXN1 (rs1045881, rs4971648), KIBRA (rs17070145), NRG1 (rs6994992), BDNF (rs6265), GRIN2B (rs3764030), APOE (rs7412, rs429358), and SNAP25 (rs363050) gene polymorphisms and to assess the effect of gene-environment interactions on individual differences in spatial ability in individuals without cognitive decline aged 18–25 years (N = 1011, 80 % women). Spatial abilities were measured using a battery of cognitive tests including the assessment of “3D shape rotation” (mental rotation). Multiple regression analysis, which was carried out in the total sample controlling for sex, ethnicity and the presence of the “risk” APOE ε4 allele, demonstrated the association of the rs17070145 Т-allele in the KIBRA gene with enhanced spatial ability (β = 1.32; pFDR = 0.037) compared to carriers of the rs17070145 CC-genotype. The analysis of gene-environment interactions revealed that nicotine smoking (β = 3.74; p = 0.010) and urban/rural residency in childhood (β = –6.94; p = 0.0002) modulated the association of KIBRA rs17070145 and АРОЕ (rs7412, rs429358) gene variants with individual differences in mental rotation, respectively. The data obtained confirm the effect of the KIBRA rs17070145 Т-allele on improved cognitive functioning and for the first time evidence the association of the mentioned genetic variant with spatial abilities in humans. A “protective” effect of the APOE ε2 allele on enhanced cognitive functioning is observed only under certain conditions related to childhood rearing

GENOMICS AND LINGUISTICS: INVOLVEMENT OF HEREDITARY FACTORS IN THE DEVELOPMENT OF INDIVIDUAL LANGUAGE ABILITIES

The development and formation of speech, language abilities of an individual is today one of the most interesting issues in psychogenetics. The use of an interdisciplinary approach allows you to take a broader look at the language abilities of a person. Description of the participation of not only exogenous environmental factors in their development, but also the influence of a certain proportion of hereditary determinants, both in normal and pathological conditions, allows us to form a more comprehensive idea of linguistic abilities and related cognitive processes occurring in the human body. This brief abstract emphasizes the important role of genetics in the formation of language and speech, and identifies a number of possible candidate genes involved in the activation of complex cognitive mechanisms associated with linguistic skills and their possible deformation.Развитие и становление речи, языковых способностей индивида представляется на сегодняшний день одним из весьма интересней ших вопросов в психогенетике. Применение междисциплинарногоподхода позволяет более широко взглянуть на языковые способности человека. Описание участия не только экзогенных факторов среды в их развитии, но и влияние некой доли наследственных детерминант как в норме, так и в патологии, позволяет сформировать более комплексное представление о лингвистических способностях и связанных с ними когнитивных процессах, протекающих в организме человека. В данном кратком сообщении подчеркнута важная роль генетики в становлении языка и речи, указан ряд возможных генов-кандидатов, задействованных в активации сложных когнитивных механизмов, сопряженных с лингвистическими навыками и их возможной деформацией.Работа выполнена при поддержке государственного задания Министерства науки и высшего образования Российской Федерации (FZWU-2020–0027), Министерства науки и высшего образования Российской Федерации (контракт № 1 от 28.12.2021)

GENETIC BASES OF THE DEVELOPMENT OF SPATIAL INTELLIGENCE

This publication is a brief overview of the concept of human spatial thinking. Spatial abilities are considered as a multidimensional set of cognitive traits that play an important role in the life of an individual. The criticality of various internal and external factors involved in the development of spatial intelligence, as well as the relevance of research conducted in this area of cognitive genomics, is noted.Данная публикация представляет собой краткий обзор понятия пространственного мышления человека. Пространственные способности рассматриваются как многомерный комплекс когнитивных черт, играющий важную роль в жизни индивида. Отмечается критичность вовлеченных в развитие пространственного интеллекта различных внутренних и внешних факторов, а также актуальность исследований, проводимых в этой области когнитивной геномики.Работа выполнена при поддержке государственного задания Министерства науки и высшего образования Российской Федерации (FZWU-2020–0027), Министерства науки и высшего образования Российской Федерации (контракт № 1 от 28.12.2021)

TUMORS OF THE HEART IN CHILDREN

Rhabdomyoma of the heart refers to benign neoplasms, often diagnosed in the first year of life, can cause serious disorders in the heart. In some cases, rhabdomyoma of the heart is observed in tuberous sclerosis, in this regard, it is necessary to conduct a full examination of the child and timely prescribe treatment and regular monitoring. Early detection of rhabdomyoma of the heart and dynamic observation of a cardiologist and cardiac surgeon with symptomatic treatment will allow you to choose the right treatment strategy, since in some cases there is a regression of rhabdomyoma

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.Peer reviewe