Heritability of Threshold Characters

Dempster, Everett R.; Lerner, I. Michael

doi:10.1093/genetics/35.2.212

Cited by 687 publications

(117 citation statements)

References 11 publications

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“…Heritabilities from the threshold model on the underlying liability scale were slightly larger than the estimates from the linear models on the observed scale. Such results reflect the theoretical expectations from threshold model applications (Dempster and Lerner, 1950) and results based on real data (e.g., Andersen-Ranberg et al, 2005). Freund und Walpole (1980) argued that estimates of parameters for categorical traits from linear models are unbiased when nπ is greater than 5; with π denoting the incidence of a disease and n denoting the number of observations in the smallest subclass for a fixed effect.…”

Section: Heritabilities For Uterine Disease Traits and Genetic Correlations With 305-d Lactation And Fertility Traitssupporting

confidence: 71%

Genomic loci and genetic parameters for uterine diseases in first-parity Holstein cows and associations with milk production and fertility

May

Sames

Scheper

et al. 2022

Journal of Dairy Science

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Based on the clinical stage (e.g., vaginal discharge) and bacterial species, several forms of uterine diseases (UD) exist and can be classified as different traits [i.e., different stages of endometritis (EM) and metritis (MET)], which may differ in their genetic background and causal physiological mechanisms. Consequently, the present study aimed to study (1) the effect of UD on 305-d lactation and fertility, (2) the estimation of heritabilities for UD traits using pedigree-and SNPbased relationships, and (3) genome-wide associations to detect significant SNP markers and to infer candidate genes for UD traits. The data set contained herd manager and veterinarian recorded UD traits of 14,810 first-lactating genotyped Holstein cows from 63 large-scale contract herds. Binary defined UD traits (healthy or diseased) according to the clinical stage were endometritis catarrhalis (EM I), endometritis mucopurulenta (EM II), endometritis purulenta (EM III), pyometra (EM IV), endometritis (EM_SOD; superordinate diagnosis = no specific clinical stage defined), and MET. The binary defined trait UDall included all EM and MET diagnoses. The prevalence of UDall was 26.7%. The effect of UD on 305-d lactation and fertility was estimated via linear and generalized linear mixed models. We applied linear single-trait animal models and threshold models to estimate pedigree-and SNPbased heritabilities for UD traits, and bivariate linear models for genetic correlation estimations between UDall with 305-d lactation and fertility traits. A diagnosis for UDall had significant unfavorable effects on the female fertility traits calving interval, interval from calving to first service, days open, and nonreturn rate after 90 d, but was unrelated to 305-d lactation records for production traits milk yield, protein yield, and fat yield. Heritabilities for UDall and EM stages were close to zero, displaying maximal values of 0.05 for pedigree and 0.07 for SNP-based relationship matri-ces. For MET, pedigree-and SNP-based heritabilities were <0.001 and 0.07, respectively. Genetic correlations ranged from 0.20 to 0.31 between UDall with 305-d milk, protein, and fat yield, and from 0.17 to 0.40 with fertility traits. The GWAS revealed 5 SNP on bovine chromosomes (BTA) 1, 8, 10, 23 for UDall, 5 SNP on BTA 26 for EM I, 1 SNP on BTA 19 for EM II, 4 SNP on BTA 2, 18, 20, 25 for EM III, and 4 SNP on BTA 4, 16, 20 for EM IV above the significance threshold. For EM_SOD, we identified 15 significantly associated SNP on 4 chromosomes, and 4 significant SNP on BTA 3, 20, 22, 28 for MET. Marker associations for UD traits were annotated to 24 potential candidate genes using the ENSEMBL database. Six of these genes were previously reported to be involved in uterine defense mechanisms or in endometritis. Further detected genes contribute to immune response mechanisms during bacterial infections. Different SNP significantly influenced different UD stages, explaining the inter-individual variations in clinical severity of uterine infections.

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Section: Heritabilities For Uterine Disease Traits and Genetic Correlations With 305-d Lactation And Fertility Traitssupporting

confidence: 71%

Genomic loci and genetic parameters for uterine diseases in first-parity Holstein cows and associations with milk production and fertility

May

Sames

Scheper

et al. 2022

Journal of Dairy Science

View full text Add to dashboard Cite

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“…To compare the heritability estimates from the linear models with the estimates from the Bayesian threshold models, the results of the linear models were converted to the underlying normally distributed liability scale, as described by Dempster and Lerner [ 11 ] (Table 3 ).…”

Section: Resultsmentioning

confidence: 99%

“…The heritabilities from the threshold models are expressed on the underlying scale. For comparison with the results from the linear model, the estimated heritabilities from the linear models were converted to the underlying normally distributed scale by the formula by Dempster and Lerner [ 11 ]: where:…”

Section: Methodsmentioning

confidence: 99%

Heritability of distichiasis in Havanese dogs in Norway

Bellamy

Lingaas

Madsen

2021

Canine Genet Epidemiol

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Background Distichiasis is a presumed inherited eyelid disease, characterized by misplaced eyelashes. The effect on eye health and animal welfare varies between individuals; most mild cases show no clinical signs, but some affected animals develop painful corneal disease. In this study, we investigated the prevalence and heritability of distichiasis in the Norwegian population of Havanese dogs. Results A total of 1156 Havanese were included in the study. Out of these, 168 were affected with distichiasis, making the prevalence in our sample 14.5% (95% CI 12.5–16.6%). There was no sex predisposition. Most affected individuals were graded “mildly affected”. The estimates generally showed high heritabilities, which varied between 0.276 (linear model) and 0.720 (Bayesian threshold model). The linear estimates, after conversion to the underlying scale (h2l = 0.664–0.674), corresponds well to the results of the Bayesian models. Conclusions The estimated heritability of distichiasis in Havanese is high and the prevalence is moderate. The high heritability indicate that a significant selection response could be obtained by simple mass selection. To secure good animal welfare, it’s important to control the number of affected individuals and especially the severely affected.

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“…The effect size of risk loci for OA, as for many common polygenic diseases but not for Mendelian diseases, is quite small and therefore the “liability threshold” model can be applied to OA. This model considers that the higher the number of risk variants an individual harbors beyond a threshold number, the higher the susceptibility to develop the disease 44 . Another interesting aspect is the fact that, as in many other common diseases, most of the GWAS signals have been reported in non-coding regions of the genome 34 .…”

Section: Genome-wide Association Studiesmentioning

confidence: 99%

Genetic biomarkers in osteoarthritis: a quick overview

Rego‐Pérez¹,

Durán-Sotuela²,

Ramos‐Louro³

et al. 2021

Fac Rev

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Osteoarthritis (OA) is a chronic musculoskeletal disease with a polygenic and heterogeneous nature. In addition, when clinical manifestations appear, the evolution of the disease is usually already irreversible. Therefore, the efforts on OA research are focused mainly on the discovery of therapeutic targets and reliable biomarkers that permit the early identification of different OA-related parameters such as diagnosis, prognosis, or phenotype identification. To date, potential candidate protein biomarkers have been associated with different aspects of the disease; however, there is currently no gold standard. In this sense, genomic data could act as complementary biomarkers of diagnosis and prognosis or even help to identify therapeutic targets of the disease. In this review, we will describe the most recent advances in genetic biomarkers in OA over the past three years.

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Heritability of Threshold Characters

Cited by 687 publications

References 11 publications

Genomic loci and genetic parameters for uterine diseases in first-parity Holstein cows and associations with milk production and fertility

Genomic loci and genetic parameters for uterine diseases in first-parity Holstein cows and associations with milk production and fertility

Heritability of distichiasis in Havanese dogs in Norway

Genetic biomarkers in osteoarthritis: a quick overview

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