98%
921
2 minutes
20
The linkage disequilibrium (LD) between molecular markers affects the accuracy of genome-wide association studies and genomic selection application. High-density genotyping platforms allow identifying the genotype of thousands of single nucleotide polymorphisms (SNPs) distributed throughout the animal genomes, which increases the resolution of LD evaluations. This study evaluated the distribution of minor allele frequencies (MAF) and the level of LD in the Colombian Creole cattle breeds Blanco Orejinegro (BON) and Romosinuano (ROMO) using a medium density SNP panel (BovineSNP50K_v2). The LD decay in these breeds was lower than those reported for other taurine breeds, achieving optimal LD values (r2 ≥ 0.3) up to a distance of 70 kb in BON and 100 kb in ROMO, which is possibly associated with the conservation status of these cattle populations and their effective population size. The average MAF for both breeds was 0.27 ± 0.14 with a higher SNP proportion having high MAF values (≥ 0.3). The LD levels and distribution of allele frequencies found in this study suggest that it is possible to have adequate coverage throughout the genome of these breeds using the BovineSNP50K_v2, capturing the effect of most QTL related with productive traits, and ensuring an adequate prediction capacity in genomic analysis.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082240 | PMC |
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0310 | DOI Listing |
Biomol Biomed
September 2025
Clinical Research Directorate, Ignacio Chávez National Institute of Cardiology, Mexico City, Mexico.
Rheumatoid arthritis (RA) is a chronic autoimmune disease in which dysregulated interferon regulatory factor 5 (IRF5) may amplify pro-inflammatory pathways; prior genetic studies of IRF5 single-nucleotide variants (SNVs) in RA are inconsistent across populations and have not included mestizo Mexicans or evaluated rs59110799 in RA. We aimed to test whether four IRF5 SNVs (rs2004640G/T, rs2070197T/C, rs10954213G/A, rs59110799G/T) confer susceptibility to RA in women from Central Mexico. In a case-control study of 239 women with RA and 231 female controls (all self-identified Mexican-Mestizos, ≥3 generations), genotyping was performed by real-time PCR with TaqMan® probes; 80% of samples were duplicated (100% concordance) and control genotypes conformed to Hardy-Weinberg equilibrium.
View Article and Find Full Text PDFJBMR Plus
October 2025
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.
Genome-wide association studies (GWAS) relevant to osteoporosis have identified hundreds of loci; however, understanding how these variants influence the phenotype is complicated because most reside in non-coding DNA sequence that serves as transcriptional enhancers and repressors. To advance knowledge on these regulatory elements in osteoclasts (OCs), we performed Micro-C analysis, which informs on the genome topology of these cells and integrated the results with transcriptome and GWAS data to further define loci linked to BMD. Using blood cells isolated from 4 healthy participants aged 31-61 yr, we cultured OC in vitro and generated a Micro-C chromatin conformation capture dataset.
View Article and Find Full Text PDFInt J Chron Obstruct Pulmon Dis
September 2025
Department of Respiratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou City, Jiangxi Province, People's Republic of China.
Background: Chronic obstructive pulmonary disease (COPD) frequently co-occurs with autoimmune diseases (ADs), yet their shared genetic basis remains incompletely understood. This study aimed to evaluate genetic correlations between COPD and seven ADs and identify shared genetic risk loci underlying this comorbidity.
Methods: We integrated summary statistics from large-scale genome-wide association studies (GWAS) of COPD and seven ADs in European populations.
Pharmacogenet Genomics
September 2025
Department of Cardiology, Tengzhou Central People's Hospital, Tengzhou, Shandong.
Objectives: Dyslipidemia is a crucial risk factor for atherosclerotic cardiovascular disease. Although rosuvastatin is widely used, treatment response varies significantly due to genetic variation. This study investigated the pharmacogenomic impact of low-density lipoprotein receptor (LDLR) 3' untranslated region (UTR) variants on rosuvastatin efficacy in a Chinese Han adult cohort with dyslipidemia.
View Article and Find Full Text PDFMud crab () is an economically important aquaculture crustacean species in China and Southeast Asia countries. However, the catches of wild mud crabs declined sharply due to overfishing and environmental pollution. Therefore, it is necessary to understand the current genetic resources and population history of mud crab (), which would provide appropriate guidelines for genetic resource management and breeding programs.
View Article and Find Full Text PDF