A genome-wide analysis of the ultimate pH in swine.

Meat pH is an important factor influencing meat quality traits in swine. This study evaluated a large number of genetic variants that covered all of the swine chromosomal regions. Approximately 68,000 single nucleotide polymorphisms (SNPs), found on Illumina Porcine SNP chips, were tested for associations with meat pH values. A genome-wide association study (GWAS) found that 19 SNPs on Sus scrofa chromosome 4 were significantly associated with pH. Two major candidate genomic regions were defined: a 1.08-Mb region (at nucleotide 30118313 to 31207050) contained 10 significant SNPs, based on an effect value of 5.0; and a 2.7-Mb genomic region (at nucleotide 73293076 to 76023681) contained 9 significant SNPs. Three putative genes--PKHD1L1, VCPIP1, and LOC102166532--were identified by GWAS near significant SNPs. These genes may account for variations in pH levels. Three pseudogenes and two non-coding RNAs were also detected by GWAS analysis. Estimations of expected and observed P values for pH revealed significant departures from the null hypothesis. A total of 9 haplotype blocks (HB) were constructed: HBs 1, 3, and 5 showed significant effects on pH24 and pH45, whereas an association was not confirmed between pH24 and HBs 4, 6, and 8. Findings from this study indicate that the three genes identified may influence pH of pig meat.

Novel SNPs in the growth arrest and DNA damage-inducible protein 45 alpha gene (GADD45A) associated with meat quality traits in Berkshire pigs.

This study was conducted to evaluate the porcine gene GADD45A (growth arrest and DNA-damage-inducible protein 45 alpha) as a positional candidate controlling quantitative trait loci (QTL) for meat quality traits on chromosome 6 (SSC6). Four exons of the porcine GADD45A gene were defined from cDNA and BAC clone sequences. A total of 4 single nucleotide polymorphisms (SNPs) were identified in porcine GADD45A. The association of these SNPs (g.196A>G, g.392C>A, g.955T>C and g.3247A>T) with meat quality traits was evaluated in 678 Berkshire pigs. The genotype distribution of only one SNP (g.3247A>T) conformed to Hardy Weinberg equilibrium in the pig population analyzed in this study, and the other SNPs were not in Hardy-Weinberg equilibrium. All four SNPs were significantly associated with meat quality traits. Three SNPS (g.196A>G, g.392C>A, and g.955T>C) showed similar significant association patterns for drip loss, cooking loss, meat color (lightness; MC_L and yellowness; MC_B), shear force and water-holding capacity traits. By contrast, g.3247A>T had a different association pattern with other traits such as intramuscular fat content (IMF) and backfat thickness (BF), drip loss, MC_L, and moisture. These findings will provide useful information for genetic characterization or association studies in other pig populations. Additionally, these markers can potentially be applied in pig breeding programs to improve meat quality traits, including IMF and BF.

Recurrence of Wilms tumor after apparent cure.

The recurrence of Wilms tumor after a 5-year disease-free interval is rare. We present two patients who had recurrent disease after a disease-free interval of greater than 7 years. Three additional patients, registered with the National Wilms Tumor Study who had a recurrence after 5 years, are also described. Of these three patients, two had nephroblastomatosis. Because more patients are achieving long-term survival, careful surveillance after apparent "cure" is recommended, particularly if nephroblastomatosis is identified in the original nephrectomy specimen.

Serial thyroid function measurements in children with Hodgkin disease.

Thyroid function was measured serially in 28 children with Hodgkin disease diagnosed from 1971 to 1978. The patients' ages ranged from 4 to 16 years at diagnosis, and treatment consisted of chemotherapy only (four patients), radiation alone (15), or radiation plus chemotherapy (nine). None of the four children given chemotherapy only developed thyroid hypofunction, in contrast to 21 (88%) of the 24 children given high doses of radiation (P less than 0.001). Thyroid function in three patients with compensated hypothyroidism and in one child with primary hypothyroidism reverted to normal without thyroid replacement. One child given chemotherapy only and one child given radiation only became transiently hyperthyroid. These results indicate that patients given combined modality therapy for Hodgkin disease are at high risk for thyroid abnormalities. The results of long-term follow-up of thyroid function demonstrate, however, that all such thyroid abnormalities may not necessarily be permanent.