RESUMEN
Non-alcoholic fatty liver disease (NAFLD) is considered the most common chronic liver disease worldwide, affecting nearly 25% of the global adult population. Increasing evidence suggests that functional and compositional changes in the gut microbiota may contribute to the development and promote the progression of NAFLD. 16S rRNA gene next-generation sequencing is widely used to determine specific features of the NAFLD microbiome, but a complex system such as the gut microbiota requires a comprehensive approach. We used three different approaches: MALDI-TOF-MS of bacterial cultures, qPCR, and 16S NGS sequencing, as well as a wide variety of statistical methods to assess the differences in gut microbiota composition between NAFLD patients without significant fibrosis and the control group. The listed methods showed enrichment in Collinsella sp. and Oscillospiraceae for the control samples and enrichment in Lachnospiraceae (and in particular Dorea sp.) and Veillonellaceae in NAFLD. The families, Bifidobacteriaceae, Lactobacillaceae, and Enterococcaceae (particularly Enterococcus faecium and Enterococcus faecalis), were also found to be important taxa for NAFLD microbiome evaluation. Considering individual method observations, an increase in Candida krusei and a decrease in Bacteroides uniformis for NAFLD patients were detected using MALDI-TOF-MS. An increase in Gracilibacteraceae, Chitinophagaceae, Pirellulaceae, Erysipelatoclostridiaceae, Muribaculaceae, and Comamonadaceae, and a decrease in Acidaminococcaceae in NAFLD were observed with 16S NGS, and enrichment in Fusobacterium nucleatum was shown using qPCR analysis. These findings confirm that NAFLD is associated with changes in gut microbiota composition. Further investigations are required to determine the cause-and-effect relationships and the impact of microbiota-derived compounds on the development and progression of NAFLD.
Asunto(s)
Microbioma Gastrointestinal , Microbiota , Enfermedad del Hígado Graso no Alcohólico , Adulto , Humanos , Enfermedad del Hígado Graso no Alcohólico/patología , Microbioma Gastrointestinal/genética , ARN Ribosómico 16S/genética , Fibrosis , Bacteroidetes , Hígado/patologíaRESUMEN
The neurobiological systems of maintenance and control of behavioral responses result from natural selection. We have analyzed the selection signatures for single nucleotide variants (SNV) of the genes of oxytocin (OXT, OXTR) and vasopressin (AVP, AVPR1A, AVPR1B) systems, which are associated with the regulation of social and emotional behavior in distinct populations. The analysis was performed using original WGS (whole genome sequencing) data on Eastern Slavs (SlEast), as well as publicly available data from the 1000 Genomes Project on GBR, FIN, IBR, PUR, BEB, CHB, and ACB populations (the latter were taken as reference). To identify selection signatures, we rated the integrated haplotype scores (iHS), the numbers of segregating sites by length (nSl), and the integrated haplotype homozygosity pooled (iHH12) measures; the fixation index Fst was implemented to assess genetic differentiation between populations. We revealed that the strongest genetic differentiation of populations was found with respect to the AVPR1B gene, with the greatest differentiation observed in GRB (Fst = 0.316) and CHB (Fst = 0.325) in comparison to ACB. Also, high Fst values were found for SNVs of the AVPR1B gene rs28499431, rs33940624, rs28477649, rs3883899, and rs28452187 in most of the populations. Selection signatures have also been identified in the AVP, AVPR1A, OXT, and OXTR genes. Our analysis shows that the OXT, OXTR, AVP, AVPR1A, and AVPR1B genes were subject to positive selection in a population-specific process, which was likely contributing to the diversity of adaptive emotional response types and social function realizations.
Asunto(s)
Oxitocina , Vasopresinas , Humanos , Oxitocina/genética , Genómica , Receptores de Oxitocina/genética , Receptores de Vasopresinas/genéticaRESUMEN
The reproductive ability of sows is the principle of continuous and efficient production, based on such traits as the number of piglets, the total number of parities, and the period of economic use. Currently, SNPs associated with the TNB and NBA are presented in the PigQTLdb. The aim of this work was the assessment of the SNP effects on the litter traits in Large White (LW, n = 502) and Landrace (LN, n = 432) sow breeds in a farm in Russia. 9 SNPs (SNP_1: rs80956812; SNP_2: rs81471381; SNP_3: rs80891106; SNP_4: rs81399474; SNP_5: rs81421148; SNP_6: rs81242222; SNP_7: rs81319839; SNP_8: rs81312912; SNP_9: rs80962240) were selected for the study. Associative analysis was performed using the GLM procedure in R version 3.5.1. The analysis of reproductive traits was carried out according to the results of the first parity, the second and subsequent parities, and totals for lifetime of sows. The significant effect on litter traits in LW was determined for SNP rs80956812, SNP rs81471381, SNP rs81421148, and SNP rs81399474. The significant effect on litter traits in LN was determined for SNP rs81421148 and SNP rs81319839. AKT3 gene was identified as perspective candidate gene, whose biological functions, as well as the results obtained in our work and in other studies, indicate its potential role in the reproductive process regulation in pigs. In general, the data obtained help to explain the genetic mechanisms of reproductive traits.