Search

This study aims to elucidate the effects of single nucleotide polymorphisms (SNPs) in the 5′-flanking region of porcine heat shock protein 70.2 gene (HSP70.2) on semen quality in boars. Genomic DNA isolated from 55 boars (41 Duroc, nine Landrace, and five Yorkshire) was subjected to PCR amplification of the 5′-flanking region of HSP70.2. The nucleotide sequences were determined by automated sequencing. Five SNPs (sites 44, 232, 250, 345, and 393) were detected in this region. Semen quality was evaluated in terms of sperm motility, percentage of normal sperm, percentage of sperm with proximal plasma droplet, percentage of abnormal sperm, sperm concentration, semen volume per ejaculate and total sperm number per ejaculate. The effect of the SNPs on semen quality was evaluated based on breed-corrected data within a season. During the cool season, the sperm motility of boars with AA genotype at the 232 site was significantly higher than that of boars with CC genotype (P<0.05). Meanwhile, boars with AC genotype at the 232 site had higher total sperm number per ejaculate than did those with CC genotype. In the hot season, heterozygotes at both the 232 and 250 sites had significantly higher total sperm number of per ejaculate than AA homozygotes (P<0.05). Semen volume of boars with TT and TC genotypes at the 345 site was significantly larger than that of those with CC genotype (P<0.05). Meanwhile, semen quality for boars with TT genotype at the 345 site was significantly higher than that of boars with TC or CC genotype (P<0.05), that is the semen contained higher percentages of normal sperm and lower percentages of abnormal sperm or sperm with proximal plasma droplets. Results herein suggest that the SNPs in the 5′-flanking region of porcine HSP70.2 are associated with semen quality traits in the hot season. [Copyright &y& Elsevier]

The 5′-flanking region in heat-shock protein 70.2 gene (HSP70.2) has been found to be associated with meat quality, birthweight, and semen quality in pigs. This study examines the relation between the genotype of five polymorphic sites in the 5′-flanking region of porcine HSP70.2 with backfat thickness and growth performance under different environmental conditions, especially the cool (low temperature 12–19 °C, high temperature 19–25 °C) and hot (low temperature 21–25 °C, high temperature 28–33 °C) seasons. A total of 216 Duroc boars were performance tested in both seasons using segregated early weaning entrance. Haplotypes of the 5′-flanking region of the animals were determined using the single nucleotide polymorphisms of their siblings and/or parents. Additionally, six haplotypes were found in the tested samples and used to construct 15 genotypes. The animals with the most prevalent nine genotypes were further analyzed to determine the interaction between genotype and season. Genotype significantly influenced backfat thickness (P<0.001). Furthermore, the interaction of genotype and season was found to influence both backfat thickness (P<0.01) and feed efficiency (P<0.05). Most of the variation in backfat thickness and feed efficiency was caused by pigs of certain genotypes raised during the cool season. Taken together, we suggest that variation of backfat deposition under different weather conditions may occur in Duroc boars with different genotypes of the 5′-flanking region of HSP70.2. [Copyright &y& Elsevier]

Background A previous study provided evidence for a genetic association between PPP2 CA on 5q31.1 and systemic lupus erythematosus ( SLE) across multi-ancestral cohorts, but failed to find significant evidence for an association in the Han Chinese population. Objectives To explore the association between this locus and SLE using data from our previously published genome-wide association study ( GWAS). Methods Single-nucleotide polymorphisms ( SNPs) rs7726414 and rs244689 (near TCF7 and PPP2 CA in 5q31.1) were selected as candidate independent associations from a large-scale study in a Han Chinese population consisting of 1047 cases and 1205 controls. Subsequently, 3509 cases and 8246 controls were genotyped in two further replication studies. We then investigated the SNPs' associations with SLE subphenotypes and gene expression in peripheral blood mononuclear cells. Results Highly significant associations with SLE in the Han Chinese population were detected for SNPs rs7726414 and rs244689 by combining the genotype data from our previous GWAS and two independent replication cohorts. Further conditional analyses indicated that these two SNPs contribute to disease susceptibility independently. A significant association with SLE, age at diagnosis < 20 years, was found for rs7726414 ( P = 0·001). The expression levels of TCF7 and PPP2 CA messenger RNA in patients with SLE were significantly decreased compared with those in healthy controls. Conclusions This study found evidence for multiple associations with SLE in 5q31.1 at genome-wide levels of significance for the first time in a Han Chinese population, in a combined genotype dataset. These findings suggest that variants in the 5q31.1 locus not only provide novel insights into the genetic architecture of SLE, but also contribute to the complex subphenotypes of SLE. [ABSTRACT FROM AUTHOR]