Pneumonia: host susceptibility and shared genetics with pulmonary function and other traits.

Pneumonia is a common and severe infectious lung disease. Host genetics, together with underlying medical and lifestyle conditions, determine pneumonia susceptibility. We performed a secondary analysis of the results of two genome-wide studies for pneumonia in 23andMe participants (40 600 cases/90 039 controls) (Tian et al., 2017) and UK Biobank (BB) participants (12 614 cases/324 585 controls) (via the Global Biobank Engine) and used the GTEx database to correlate the results with expression quantitative trait loci (eQTLs) data in lung and whole blood. In the 23andMe pneumonia single nucleotide polymorphism (SNP) set, 177 genotyped SNPs in the human leukocyte antigen (HLA) region satisfied the genome-wide significance level, P ≤ 5·0E-08. Several target genes (e.g. C4A, VARS2, SFTA2, HLA-C, HLA-DQA2) were unidirectionally regulated by many HLA eSNPs associated with a higher risk of pneumonia. In lung, C4A transcript was up-regulated by 291 pneumonia risk alleles spanning the half the HLA region. Among SNPs correlated with the expression levels of SFTA2 and VARS2, approximately 75% overlapped: all risk alleles were associated with VARS2 up-regulation and SFTA2 down-regulation. To find shared gene loci between pneumonia and pulmonary function (PF), we used data from the Global Biobank Engine and literature on genome-wide association studies (GWAS) of PF in general populations. Numerous gene loci overlapped between pneumonia and PF: 28·8% in the BB data set and 49·2% in the 23andMe data set. Enrichment analysis within the database of Genotypes and Phenotypes (dbGaP) and National Human Genome Research Institute-European Bioinformatics Institute (NHGRI-EBI) Catalog of pneumonia and pneumonia/PF gene sets identified significant overlap between these gene sets and genes related to inflammatory, developmental, neuropsychiatric and cardiovascular and obesity-related traits.

[Elastogenesis-Related Gene Polymorphisms and the Risk of Pelvic Organ Prolapse Development].

Pelvic organ prolapse (POP) represents a urologic and gynecological disease, the development of which is governed both by environmental and genetic factors. We describe the results of our association study of polymorphic variants of genes involved in the assembly of elastic fibrils, namely, the lysyl oxidase protein 1 (LOXL1) and fibulin-3 (FBLN3) genes. We revealed an association of the rs2304719-T allele and rs2165241 (C)-rs2304719(T)-rs893821(T) haplotype of the LOXL1 gene with an increased risk of POP development, as well as a weak association with the disease of the rs3791660-C allele and the rs3791679(T)- rs1367228(A)-rs3791660(C)-rs2033316(A) haplotype of the FBLN3 gene.

Association of oxidative stress-related genes with idiopathic recurrent miscarriage.

Oxidative stress may play a role in the recurrent miscarriage (RM) with no known etiology. This study was conducted to investigate the association of polymorphisms in oxidative stress-related genes with idiopathic RM. A total of 331 idiopathic RM patients and 197 controls were genotyped for ABCB1 rs1045642, CYP1A1 rs1048943 and rs4646903, COMT rs4680, CAT rs17880664, GCLC rs17883901, GPX4 rs713041, NRF2 rs6721961, SOD2 rs4880, and OGG1 rs1052133. A protective effect of COMT rs4680-G allele on RM was shown in individual SNP analysis: P = 0.0016, OR = 0.47, 95% CI 0.29-0.75. The multi-factor dimensionality reduction (MDR) approach revealed gene-gene interactions for ABCB1, COMT, GPX4, and OGG1 genes. Cumulative gene risk score analysis demonstrated that more than three risk alleles in the genes ABCB1 (rs1045642-T), COMT (rs4680-A), GPX4 (rs713041-T), and OGG1 (rs1052133-G) were associated with idiopathic RM P = 1.2 × 10(-3), OR = 1.97, 95% CI 1.31-2.97. In silico data interpreting by GeneMANIA analysis revealed genetic, physical, pathway, and coexpression networks for these four genes.

[Effect of infrared low-intensity laser therapy on orbital blood circulation in children with progressive short sightedness].

This work was designed to study effect of low-intensity infrared laser radiation (LIIRR) on orbital circulation in children with progressive progressive short-handedness. Parameters of the blood flow in the orbital artery, central retinal artery, and posterior ciliary artery were evaluated in a total of 88 patients at the age from 6 to 14 years. The study group (group 1) comprised 66 children with moderately severe progressive myopia (112 eyes), the control one (group 2) included 22 patients without visual disturbances (44 eyes). Patients of group 1 received physiotherapy for the treatment of significantly deteriorated hemodynamics in the orbital region. Indirect action of LIIRR on the orbital region promoted stabilization of short-handedness in 78.8% of the treated patients. It is concluded that the method described in this paper is clinically efficient and may be recommended for the prevention of progressive myopia in children.

[Vibrations as an experimental factor affecting intestinal resorption]. / Vibratsiite kato faktor, vliiaesht na chrevnata rezorbtsiia v eksperiment.

The authors treated white rats daily at one and the same time for a period of one hour with vibrations. One of the groups of animals were treated with vibrations and examined after that, but the other two groups were treated respectively for 45 and 90 days. Examination was carried out during vibration, immediately after that and three hours after the vibrations. They used the method of the turned bags of Wilson and Waisman, by means of which they checked the resorption of glucose through the intestinal wall in vitro, it was established that during continuous vibration action the values of the resorption glucose were statistically lower than those of the control group. There were statistically significant differences in the values of the resorbed glucose in the subgroups examined during the vibration immediately and there hours after that. The authors discuss the obtained results in the light of the current concepts for the action of vibrations as a stress factor and their influence on intestinal resorption.