Reproductive productivity depend on a complex set of characteristics. The number of piglets at birth (Total number born, Litter size, TNB) and the number of alive piglets at birth (Total number born alive, NBA) are the main indicators of the reproductive productivity of sows in pig breeding. Great hopes are pinned on GWAS (Genome-Wide Association Studies) to solve the problems associated with studying the genetic architecture of reproductive traits of pigs. This paper provides an overview of international studies on SNP (Single nucleotide polymorphism) associated with TNB and NBA in pigs presented in PigQTLdb as “Genome map association”. Currently on the base of Genome map association results 306 SNPs associated with TNB (218 SNPs) and NBA (88 SNPs) have been identified and presented in the Pig QTLdb database. The results are based on research of pigs such as Large White, Yorkshire, Landrace, Berkshire, Duroc and Erhualian. The presented review shows that most SNPs found in chromosome areas where candidate genes or QTLs (Quantitative trait locus) have been identified. Further research in the given direction will allow to obtain new data that will become an impulse for creating breakthrough breeding technologies and increase the production efficiency in pig farming.

Intensive selection raises the efficiency of pig farming considerably, but it also promotes the accumulation of homozygosity, which can lead to an increase in inbreeding and the accumulation of deleterious variation. The analysis of segments homozygous-by-descent (HBD) and non-HBD segments in purebred and crossbred pigs is of great interest. Research was carried out on 657 pigs, of which there were Large White (LW, n = 280), Landrace (LR, n = 218) and F1 female (♂LR × ♀LW) (F1, n = 159). Genotyping was performed using the GeneSeek^® GGP Porcine HD Genomic Profiler v1 (Illumina Inc., USA). To identify HBD segments and estimate autozygosity (inbreeding coefficient), we used the multiple HBD classes model. LW pigs exhibited 50,420 HBD segments, an average of 180 per animal; LR pigs exhibited 33,586 HBD segments, an average of 154 per animal; F1 pigs exhibited 21,068 HBD segments, an average of 132 per animal. The longest HBD segments in LW were presented in SSC1, SSC13 and SSC15; in LR, in SSC1; and in F1, in SSC15. In these segments, 3898 SNPs localized in 1252 genes were identified. These areas overlap with 441 QTLs (SSC1—238 QTLs; SSC13—101 QTLs; and SSC15—102 QTLs), including 174 QTLs for meat and carcass traits (84 QTLs—fatness), 127 QTLs for reproduction traits (100 QTLs—litter traits), 101 for production traits (69 QTLs—growth and 30 QTLs—feed intake), 21 QTLs for exterior traits (9 QTLs—conformation) and 18 QTLs for health traits (13 QTLs—blood parameters). Thirty SNPs were missense variants. Whilst estimating the potential for deleterious variation, six SNPs localized in the NEDD4, SEC11C, DCP1A, CCT8, PKP4 and TENM3 genes were identified, which may show deleterious variation. A high frequency of potential deleterious variation was noted for LR in DCP1A, and for LW in TENM3 and PKP4. In all cases, the genotype frequencies in F1 were intermediate between LR and LW. The findings presented in our work show the promise of genome scanning for HBD as a strategy for studying population history, identifying genomic regions and genes associated with important economic traits, as well as deleterious variation.

This paper presents the results on the study of melanocortin-4 receptor (MC4R) gene polymorphisms in sheep of the Karachai breed. AA, AG, and GG genotypes were determined to have allele frequencies of 47%, 37%, and 16%, respectively, indicating that allele A and the homozygous AA genotype occurred the most frequently. Analysis of the meat productivity of sheep, with respect to the MC4R genotype, showed a higher slaughter yield in sheep with the AA genotype compared to those with either the GG or AG genotypes. The variability at these loci provides a basis for controlling the meat productivity of sheep in the Karachai sheep population; therefore, this polymorphism should be monitored and melanocortin-4 receptor (MC4R) gene selection considered in pedigree farms.

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.

One of the most important areas of modern genome research is the search for meaningful relationships between genetic variants and phenotypes. In the livestock field, there has been research demonstrating the influence of copy number variants (CNVs) on phenotypic variation. Despite the wide range in the number and size of detected CNVs, a significant proportion differ between breeds and their functional effects are underestimated in the pig industry. In this work, we focused on the problem of leg defects in pigs (lumps/growths in the area of the hock joint on the hind legs) and focused on searching for molecular genetic predictors associated with this trait for the selection of breeding stock. The study was conducted on Large White pigs using three CNV calling tools (PennCNV, QuantiSNP and R-GADA) and the CNVRanger association analysis tool (CNV-GWAS). As a result, the analysis identified three candidate CNVRs associated with the formation of limb defects. Subsequent functional analysis suggested that all identified CNVs may act as potential predictors of the hock joint phenotype of pigs. It should be noted that the results obtained indicate that all significant regions are localized in genes (CTH, SRSF11, MAN1A1 and LPIN1) responsible for the metabolism of amino acids, fatty acids, glycerolipids and glycerophospholipids, thereby related to the immune response, liver functions, content intramuscular fat and animal fatness. These results are consistent with previously published studies, according to which a predisposition to the formation of leg defects can be realized through genetic variants associated with the functions of the liver, kidneys and hematological characteristics.