Dataset Information

Genetic Correlations Among Corneal Biophysical Parameters and Anthropometric Traits.

ABSTRACT:

Purpose

The genetic architecture of corneal dysfunction remains poorly understood. Epidemiological and clinical evidence suggests a relationship between corneal structural features and anthropometric measures. We used global and local genetic similarity analysis to identify genomic features that may underlie structural corneal dysfunction.

Methods

We assembled genome-wide association study summary statistics for corneal features (central corneal thickness, corneal hysteresis [CH], corneal resistance factor [CRF], and the 3 mm index of keratometry) and anthropometric traits (body mass index, weight, and height) in Europeans. We calculated global genetic correlations (rg) between traits using linkage disequilibrium (LD) score regression and local genetic covariance using ρ-HESS, which partitions the genome and performs regression with LD regions. Finally, we identified genes located within regions of significant genetic covariance and analyzed patterns of tissue expression and pathway enrichment.

Results

Global LD score regression revealed significant negative correlations between height and both CH (rg = -0.12; P = 2.0 × 10-7) and CRF (rg = -0.11; P = 6.9 × 10-7). Local analysis revealed 68 genomic regions exhibiting significant local genetic covariance between CRF and height, containing 2874 unique genes. Pathway analysis of genes in regions with significant local rg revealed enrichment among signaling pathways with known keratoconus associations, including cadherin and Wnt signaling, as well as enrichment of genes modulated by copper and zinc ions.

Conclusions

Corneal biophysical parameters and height share a common genomic architecture, which may facilitate identification of disease-associated genes and therapies for corneal ectasias.

Translational relevance

Local genetic covariance analysis enables the identification of associated genes and therapeutic targets for corneal ectatic disease.

SUBMITTER: Cousins HC

PROVIDER: S-EPMC10424803 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature

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Publications

Genetic Correlations Among Corneal Biophysical Parameters and Anthropometric Traits.

Cousins Henry C HC Cousins Clara C CC Valluru Girish G Altman Russ B RB Liu Yutao Y Pasquale Louis R LR Ahmad Sumayya S

Translational vision science & technology 20230801 8

<h4>Purpose</h4>The genetic architecture of corneal dysfunction remains poorly understood. Epidemiological and clinical evidence suggests a relationship between corneal structural features and anthropometric measures. We used global and local genetic similarity analysis to identify genomic features that may underlie structural corneal dysfunction.<h4>Methods</h4>We assembled genome-wide association study summary statistics for corneal features (central corneal thickness, corneal hysteresis [CH], ...[more]

PMID: 37561511

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Project description:IntroductionIn this study, we aimed to estimate the genetic parameters of the reproductive traits in three popular commercial pig breeds: Duroc, Landrace, and Yorkshire. Additionally, we evaluated the factors that influence these traits.MethodWe collected data from a large number of litters, including 1,887 Duroc, 21,787 Landrace, and 74,796 Yorkshire litters. Using the ASReml-R software to analyze 11 traits, which included: total number of pigs born (TNB); number of piglets born alive (NBA); number of piglets born healthy (NBH); number of piglets born weak (NBW); number of new stillborn piglets (NS); number of old stillborn piglets (OS); number of piglets born with malformation (NBM); number of mummified piglets (NM); total litter birthweight (LBW); litter average weight (LAW); duration of gestational period (GP). We investigated the effects of 4 fixed factors on the genetic parameters of these traits.ResultsAmong the 11 reproductive-related traits, the gestational period belonged to the medium heritability traits (0.251-0.430), while remaining traits showed low heritability, ranging from 0.005 to 0.159. TNB, NBA, NBH, LBW had positive genetic correlation (0.737 ~ 0.981) and phenotype correlation (0.711 ~ 0.951). There was a negative genetic correlation between NBW and LAW (-0.452 ~ -0.978) and phenotypic correlation (-0.380 ~ -0.873). LBW was considered one of the most reasonable reproductive traits that could be used for breeding improvement. Repeatability of the three varieties was within the range of 0.000-0.097. In addition, the fixed effect selected in this study had a significant effect on Landrace and Yorkshire (p < 0.05).DiscussionWe found a positive correlation between LBW and TNB, NBA, and NBH, suggesting the potential for multi-trait association breeding. Factors such as farm, farrowing year, breeding season, and parity should be taken into consideration in practical production, as they may impact the reproductive performance of breeding pigs.

Dataset Information

Genetic Correlations Among Corneal Biophysical Parameters and Anthropometric Traits.

Purpose

Methods

Results

Conclusions

Translational relevance

Publications

Genetic Correlations Among Corneal Biophysical Parameters and Anthropometric Traits.

Similar Datasets

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