Altered erythrocyte membrane protein composition mirrors pleiotropic effects of hypertension susceptibility genes and disease pathogenesis

The study was designed to assess the effects of polymorphisms in genes associated with essential hypertension on the variation of erythrocyte membrane proteins (EMPs) in hypertensive patientsyesBelgorod State National Research Universit

A comprehensive contribution of genes for aryl hydrocarbon receptor signaling pathway to hypertension susceptibility

The present study was designed to investigate whether genetic polymorphisms of the aryl hydrocarbon receptor (AHR) signaling pathway are involved in the molecular basis of essential hypertension (EH

What is the effect of alcohol consumption on the risk of chronic widespread pain? : A Mendelian randomisation study using UK Biobank

This research has been conducted using the UK Biobank resource, application no. 1144, and was funded by the University of Aberdeen. MF is funded by the EU FP7 project PainOmics (contract #602736). The authors have no conflicts of interest to declarePeer reviewedPostprin

Genetics of «atopic march» syntropy

The study of the phenomenon of a combination of several diseases at the same time in an individual, actualized in the second half of the 19th century, is being actively analyzed 150 years later using genetic approaches. We present an overview of the results of such studies in relation to allergic diseases, in particular, a special variant, the so-called «atopic march», the sequential development of eczema, allergic rhinitis and asthma («atopic march» syntropy). The data of genetic and epidemiological studies were summarized, the analysis of genome-wide associative studies was carried out, and the role of mutations in the filaggrin gene (FLG) in the development of the «atopic march» syntropy was considered

МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКИЕ ИССЛЕДОВАНИЯ КОМОРБИДНОСТИ

This review focuses at the problem of the genetic basis of comorbidity. We discuss the concepts and terms relating to combinations of diseases. The guidelines of the study of comorbidity using modern high throughput methods and approaches of genetics, molecular biology and bioinformatics are designated. In this review we present results of studies showing genetic specificity for the combined phenotypes dif-ferent from the isolated disease, we considergene-gene and gene-environment interactions in comorbidity. We also discuss the role of single nucleotide polymorphisms and structural genome variations in the development of comorbidity. Own results of researching shared genes of inversely comorbid diseases like as bronchial asthma and tuberculosis are presented.Обзор посвящен проблеме генетических основ коморбидности. Обозначены основные направления в исследовании коморбидности с использованием современных высокотехнологичных методов и подходов генетики, молекулярной биологии и биоинформатики. Приведены результаты исследований, показывающих генетическую специфичность в отношении комбинированных фенотипов, отличающуюся от изолированных болезней; рассматриваются вопросы межгенных и ген-средовых взаимодействий при коморбидных состояниях; обсуждается рольоднонуклеотидныхполиморфных вариантов и структурных вариаций генома с развитием коморбидных состояний. Приведены результаты собственного исследования общих генов для обратно коморбидных заболеваний, таких как бронхиальная астма и туберкуле

Association Between Medication-Taking and Refractive Error in a Large General Population-Based Cohort

PURPOSE. Refractive errors, particularly myopia, are common and a leading cause of blind-ness. This study aimed to explore associations between medications and refractive error in an aging adult cohort and to determine whether childhood-onset refractive errors predict future medication use to provide novel insights into disease mechanisms. METHODS. The study compared the spherical equivalent values measured in 102,318 UK Biobank participants taking the 960 most commonly used medications. The strengths of associations were evaluated against the self-reported age of spectacle wear. The causality of refractive error changes was inferred using sensitivity and Mendelian randomization analyses. RESULTS. Anti-glaucoma drugs were associated with 1 to 2 diopters greater myopic refrac-tion, particularly in subjects who started wearing correction in the first two decades of life, potentially due to the association of higher intraocular pressure since early years with both myopia and, later in life, glaucoma. All classes of pain-control medications, including paracetamol, opiates, non-steroidal antiinflammatory drugs, and gabapentinoids, were associated with greater hyperopia (+0.68-1.15 diopters), after correction for deprivation, education, and polypharmacy and sensitivity analyses for common diagnoses. Oral hypoglycemics (metformin, gliburonide) were associated with myopia, as was allopurinol, and participants using bronchodilators (ipratropium and salbutamol) were more hyperopic. CONCLUSIONS. This study finds for the first time, to our knowledge, that medication use is associated with refractive error in adults. The novel finding that analgesics are associated with hyperopic refraction, and the possibility that multisite chronic pain predisposes to hyperopia, deserves further research. Some drugs, such as antihyperglycemic or bronchodilators, may directly alter refractive error. Intraocular pressure appears causative for myopia

Association of Polymorphisms in the Human IL4 and IL5 Genes With Atopic Bronchial Asthma and Severity of the Disease

Two polymorphisms in the IL4 (G/C 3′-UTR) and IL5 (C-703T) genes were studied in a sample of families whose probands had atopic bronchial asthma (BA) (66 families, n = 183) and in a group of non-cognate individuals with the severe form of the disease (n = 34). The samples were collected from the Russian population in the city of Tomsk (Russia). Using the transmission/disequilibrium test (TDT), a significant association of allele C-703 IL5 with BA was established (TDT = 4.923, p = 0.007 ± 0.0007). The analysis of 40 individuals with mild asthma and 49 patients with the severe form of the disease revealed a negative association of genotype GG IL4 (OR = 0.39, 95% CI = 0.15−0.99, p = 0.035), and also a trend towards a positive association of the GC IL4 genotype (OR = 2.52, 95% CI = 0.98−6.57, p = 0.052) with mild BA. There was a concordance of the clinical classification of BA severity with the ‘genotype’ (McNemar’s χ2 test with continuity correction constituted 0.03, d.f. = 1, p = 0.859). These results suggest that polymorphisms in the IL4 and IL5 genes contribute to the susceptibility to atopic BA and could determine the clinical course of the disease