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Inbreeding and Gallbladder Cancer Risk: Homozygosity Associations Adjusted for Indigenous American Ancestry, BMI, and Genetic Risk of Gallstone Disease.
Cancers (Basel)
December 2024
Statistical Genetics Research Group, Institute of Medical Biometry, Heidelberg University, Im Neuenheimer Feld 130.3, 69120 Heidelberg, Germany.
Latin Americans have a rich genetic make-up that translates into heterogeneous fractions of the autosomal genome in runs of homozygosity (F) and heterogeneous types and proportions of indigenous American ancestry. While autozygosity has been linked to several human diseases, very little is known about the relationship between inbreeding, genetic ancestry, and cancer risk in Latin Americans. Chile has one of the highest incidences of gallbladder cancer (GBC) in the world, and we investigated the association between inbreeding, GBC, gallstone disease (GSD), and body mass index (BMI) in 4029 genetically admixed Chileans.
View Article and Find Full Text PDFFederated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Nat Genet
October 2024
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had genetically inferred non-European ancestries.
View Article and Find Full Text PDFMany international, national, state, and local organizations prioritize the ranking of threatened and endangered species to help direct conservation efforts. For example, the International Union for Conservation of Nature (IUCN) assesses the Green Status of species and publishes the influential Red List of threatened species. Unfortunately, such conservation yardsticks do not explicitly consider genetic or genomic diversity (GD), even though GD is positively associated with contemporary evolutionary fitness, individual viability, and with future evolutionary potential.
View Article and Find Full Text PDFCanine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.
Mov Disord
November 2024
Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, Indiana, USA.
Article Synopsis
- Neuroaxonal dystrophy (NAD) is an inherited neurodegenerative disorder characterized by swollen axons in the central nervous system, with a newly identified form affecting Miniature American Shepherds.
- Clinical evaluations and genetic studies revealed that young adult dogs exhibited gait abnormalities, linked to a specific genetic mutation (a 1-bp deletion in the RNF170 gene) that follows an autosomal recessive inheritance pattern.
- The findings suggest that this canine version of NAD shares similarities with human spastic paraplegia-85, making it a potential model for studying similar human conditions and testing therapies.
Genomic Characterization of Local Croatian Sheep Breeds-Effective Population Size, Inbreeding & Signatures of Selection.
Animals (Basel)
June 2024
Faculty of Agriculture, University of Zagreb, 10000 Zagreb, Croatia.
The Istrian (IS) and the Pag sheep (PS) are local Croatian breeds which provide significant income for the regional economy and have a cultural and traditional importance for the inhabitants. The aim of this study was to estimate some important population specific genetic parameters in IS (N = 1293) and PS (N = 2637) based on genome wide SNPs. Estimates of linkage disequilibrium effective population size (N) evidenced more genetic variability in PS (N = 838) compared to IS (N = 197), regardless of historical time (both recent and ancient genetic variability).
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