In linkage analysis a single-child family is usually considered to be completely uninformative. This article shows that such a family can provide information on linkage disequilibrium, even if it provides no information on linkage equilibrium. A transition matrix consisting of the recombination fraction and the phase proportion is proposed to study the genetic transmission from a pair of parents to their single child. The information about linkage for a single-child family is shown to be confounded by the phase proportion. This explains why such a family used to be considered uninformative under the assumption of linkage equilibrium. By reparametrizing the recombination fraction and the phase proportion into one parameter, it is demonstrated that extracting information on linkage disequilibrium is feasible. The study of power of the testing method proposed here is carried out by simulation.
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http://dx.doi.org/10.1159/000154019 | DOI Listing |
Ecol Evol
January 2025
State Key Laboratory of Breeding Biotechnology and Sustainable Aquaculture, Institute of Hydrobiology Chinese Academy of Sciences Wuhan China.
The black bream () is an economically important species widely distributed in China, with its geographic populations potentially having undergone differentiations and local adaptations. In this study, we presented a chromosome-level genome assembly of this species and investigated genetic differentiations of its populations that are allopatric (the northern one) and sympatric (the Poyang Lake) to its kin species, the blunt-snout bream (), using whole genome resequencing analysis. The results showed that the genome size of black bream was 1.
View Article and Find Full Text PDFAnim Biosci
January 2025
Key Laboratory of Animal Genetics, Breeding and Reproduction in the Plateau Mountainous Region, Ministry of Education, Guizhou Province/Guiyang City/Huaxi District, China.
Objective: This study aimed to identify polymorphisms in the gene encoding the 3-hydroxy-3-methylglutaryl-CoA synthase 1, HMGCS1, and analyze their association with slaughter characteristics, meat quality, and organ coefficients in Guizhou white goats.
Methods: A total of 153 twelve-month-old Guizhou white goats (78 male and 75 female) were included in the study. Slaughter characteristics, meat quality, and organ coefficients were assessed.
Clin Transl Gastroenterol
January 2025
Key Laboratory of Hepatosplenic Surgery, Ministry of Education, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang province, China.
Background: Cholelithiasis is influenced by various factors, including genetic elements identified in genome-wide association studies (GWAS), but their biological functions are not fully understood.
Methods: Analyzing data from the Finngen database with 37,041 cholelithiasis cases and 330,903 controls, this study combined SNP data from GTEx v8 and linkage disequilibrium data from the 1000 Genomes Project. Using the TWAS FUSION protocol and SMR analysis, it investigated the relationship between gene expression and cholelithiasis, employing colocalization tests and conditional analyses to explore causality.
Brain Behav Immun Health
February 2025
Department of Neurosurgery, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, Henan, 450003, China.
Background: Trigeminal neuralgia (TN) is a severe facial pain disorder with complex etiology. Inflammation has been suggested as a contributing factor to TN pathogenesis. This study investigates the causal relationship between inflammatory biomarkers, including 41 circulating inflammatory cytokines, C-reactive protein (CRP), and procalcitonin (PCT), and TN using Mendelian randomization (MR) analysis.
View Article and Find Full Text PDFJ Headache Pain
January 2025
Clinical Systems Biology Laboratories, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Migraine is a complex neurological disorder characterized by recurrent episodes of severe headaches. Although genetic factors have been implicated, the precise molecular mechanisms, particularly gene expression patterns in migraine-associated brain regions, remain unclear. This study applies machine learning techniques to explore region-specific gene expression profiles and identify critical gene programs and transcription factors linked to migraine pathogenesis.
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