Host Genetic Variants Linked to COVID-19 Neurological Complications and Susceptibility in Young Adults—A Preliminary Analysis

To date, multiple efforts have been made to use genome-wide association studies (GWAS) to untangle the genetic basis for SARS-CoV-2 infection susceptibility and severe COVID-19. However, data on the genetic-related effects of SARS-CoV-2 infection on the presence of accompanying and long-term post-COVID-19 neurological symptoms in younger individuals remain absent. We aimed to examine the possible association between SNPs found in a GWAS of COVID-19 outcomes and three phenotypes: SARS-CoV-2 infection, neurological complications during disease progression, and long-term neurological complications in young adults with a mild-to-moderate disease course. University students (N = 336, age 18–25 years, European ancestry) with or without COVID-19 and neurological symptoms in anamnesis comprised the study sample. Logistic regression was performed with COVID-19-related phenotypes as outcomes, and the top 25 SNPs from GWAS meta-analyses and an MR study linking COVID-19 and cognitive deficits were found. We replicated previously reported associations of the FURIN and SLC6A20 gene variants (OR = 2.36, 95% CI 1.31–4.24) and OR = 1.94, 95% CI 1.08–3.49, respectively) and remaining neurological complications (OR = 2.12, 95% CI 1.10–4.35 for SLC6A20), while NR1H2 (OR = 2.99, 95% CI 1.39–6.69) and TMPRSS2 (OR = 2.03, 95% CI 1.19–3.50) SNPs were associated with neurological symptoms accompanying COVID-19. Our findings indicate that genetic variants related to a severe COVID-19 course in adults may contribute to the occurrence of neurological repercussions in individuals at a young age

Психогенетика пространственных способностей человека

Introduction. This scientific review aims to understand the etiology of human spatial abilities. Spatial thinking is a complex combination of cognitive abilities related to recognizing, transforming, and storing information about objects and predicting the transformation of interactions among them under the influence of other factors. In this work we tend to provide the most complete description of spatial abilities as a specific type of mental activity that underlies practical and theoretical problem-solving in the framework of psychology and genetics to emphasize the importance of synthesizing the experimental data and psychological foundations of spatial intelligence. Theoretical Basis. This review presents the results of genetically informative studies of human spatial abilities. Since the ability to orientate in space is an integral characteristic of all living organisms, spatial abilities are of evolutionary and adaptive importance. In cognitive psychology, spatial skills are understood as the ability to operate with mental spatial images, schemes, and models of reality. Moreover, these abilities vary widely among individuals. The analysis of the etiology of these individual differences showed a significant contribution (69 %) of hereditary factors in the formation of spatial abilities. The results of twin studies indicate the need for searching specific polymorphic variants in genes involved in the development of spatial skills. Large-scale longitudinal studies have shown that spatial abilities are a reliable predictor of individuals’ achievements in science, technology, engineering, and mathematics (STEM). Therefore, studying their molecular-genetic mechanisms merits special attention. Results and Discussion. Various experimental studies on the psychogenetics of human spatial abilities first reported very interesting findings confirming their hereditary nature. Thus, spatial intelligence is a moderately heritable trait, which development involves a wide range of genetic factors causing the activation of various signaling pathways of the metabolism of the human organism.Введение. Представленный научный обзор направлен на понимание этиологии пространственных способностей человека. Пространственное мышление – сложный комплекс когнитивных способностей, позволяющих распознавать, преобразовывать и сохранять информацию об объектах, прогнозировать трансформацию взаимодействий между ними под влиянием прочих факторов. Настоящая работа направлена на получение наиболее полного описания пространственных способностей как специфического вида умственной деятельности, лежащего в основе выполнения практических и теоретических задач, решаемых индивидом, с позиции психологии и генетики, чтобы подчеркнуть важность синтеза накопленных экспериментальных данных и психологических основ пространственного интеллекта в общем. Теоретическое обоснование. Представлен обзор результатов генетически информативных исследований пространственных способностей человека. Так как умение ориентироваться в пространстве является неотъемлемой чертой всех живых организмов, пространственные способности имеют эволюционно-адаптивное значение и также важны для индивида. В когнитивной психологии под пространственными навыками понимаются способности оперировать мысленными пространственными образами, схемами, моделями реальности, причем эти способности существенно различаются между людьми. Анализ этиологии этих индивидуальных различий выявил значительный вклад (69 %) наследственных факторов в формирование пространственных способностей. Результаты близнецовых исследований ставят задачу поиска конкретных полиморфных вариантов в генах, вовлеченных в развитие пространственных навыков. В целом ряде масштабных лонгитюдных исследований показано, что пространственные способности являются надежным предиктором достижений человека в области естественных наук, технологий, инженерии и математики (STEM), поэтому изучение их молекулярно-генетических механизмов представляется важной и актуальной задачей. Результаты и их обсуждение. В ходе проведения различного рода экспериментальных работ по психогенетике пространственных способностей человека были впервые получены весьма интересные данные, подтверждающие их наследственную природу. Выявлено, что пространственный интеллект является умеренно наследуемым признаком, в развитии которого задействован широкий спектр генетических факторов, обуславливающих активацию различных сигнальных путей метаболизма организма человека

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