Linkage disequilibrium (LD) analyses play a fundamental role in gene mapping, both as a tool for fine mapping of complex trait gene and in genome-wide association studies. The use of LD analyses in practice depends crucially on the understanding of the patterns of LD in the genome. In the present study, a total of 36 SNP were selected initially in a region (200 kb) of Contig.060226.1 on GGA1 based on the average physical distance. After verifying their level of polymorphism, 21 SNP were selected finally to genotype one wild and two domestic chicken populations, Red Jungle Fowl (RJF), Taihe Silkie chicken (TS) and White Recessive Rock chicken (WRR). Two distinct measures of linkage disequilibrium, D' and r(2), between marker pairs were used. The D'map of RJF is spurious. Many marker pairs showed complete LD. TS and WRR showed distinct characteristic of decreasing D' value over increasing physical distance. The r(2) showed much less inflation than did D' in RJF population, and also showed a characteristic decreasing value over increasing physical distance. In TS and WRR populations, although the two measures differed in scale, their decay profiles were similar. The data in the present study suggested that the extent of LD in this region is about 150 kb, corresponding to 0.4 cM. Our results imply that a very dense map of SNP markers will be required for LD mapping methods. Thus, association studies based on polymorphisms within all known genes, and candidate QTL mapping, may ultimately prove to be a more effective strategy.
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http://dx.doi.org/10.1111/j.1601-5223.2008.02043.x | DOI Listing |
Nat Commun
January 2025
Laboratory of Molecular Translational Medicine, Center for Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, China.
Pubertal timing is highly variable and is associated with long-term health outcomes. Phenotypes associated with pubertal timing include age at menarche, age at voice break, age at first facial hair and growth spurt, and pubertal timing seems to have a shared genetic architecture between the sexes. However, puberty phenotypes have primarily been assessed separately, failing to account for shared genetics, which limits the reliability of the purported health implications.
View Article and Find Full Text PDFEpilepsy Behav
January 2025
Department of Pharmacy, the Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou 450015, China. Electronic address:
Objective: The study aimed to investigate the causal relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and epilepsy using Mendelian randomization (MR), thereby addressing confounding and reverse causality issues in observational studies.
Methods: We employed a two-sample bidirectional MR design utilizing summary-level data from the IEU OpenGWAS project. Serum 25(OH)D levels were analyzed using the publicly available dataset ebi-a-GCST90000618, which included 496,946 European samples and 68,960,93 SNPs.
Ecotoxicol Environ Saf
January 2025
Gansu Key Laboratory of Biomonitoring and Bioremediation for Environmental Pollution, School of Life Sciences, Lanzhou University, Lanzhou 730000, China. Electronic address:
Habitat fragmentation represents a multifaceted global conservation threat, exerting both direct and indirect effects on individual animals and communities. Reptiles, particularly smaller species with limited migratory abilities, are especially vulnerable to these changes. This study examines how small reptiles adapt their life history strategies in fragmented habitats and determines whether their responses are primarily due to phenotypic plasticity or genetic adaptation.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Laboratory, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, P.R. China.
Background: Systemic lupus erythematosus (SLE) is a complex and incurable autoimmune disease, so several drug remission for SLE symptoms have been developed and used at present. However, treatment varies by patient and disease activity, and existing medications for SLE were far from satisfactory. Novel drug targets to be found for SLE therapy are still needed.
View Article and Find Full Text PDFAlzheimers Dement (N Y)
January 2025
Indiana Alzheimer Disease Research Center and Center for Neuroimaging, Department of Radiology and Imaging Sciences Indiana University School of Medicine Indianapolis Indiana USA.
Introduction: The exponential growth of genomic datasets necessitates advanced analytical tools to effectively identify genetic loci from large-scale high throughput sequencing data. This study presents Deep-Block, a multi-stage deep learning framework that incorporates biological knowledge into its AI architecture to identify genetic regions as significantly associated with Alzheimer's disease (AD). The framework employs a three-stage approach: (1) genome segmentation based on linkage disequilibrium (LD) patterns, (2) selection of relevant LD blocks using sparse attention mechanisms, and (3) application of TabNet and Random Forest algorithms to quantify single nucleotide polymorphism (SNP) feature importance, thereby identifying genetic factors contributing to AD risk.
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