Genetic analysis of morphological and functional traits in Campolina horses using Bayesian multi-trait model

Relationship between daily distance traveled, voluntary intake, and body condition score in horses kept in individual pens

Background: Radiologically dense area (DA) on a mammogram represents the stromal and epithelial tissue in the breast, while non-dense area (NDA) represents adipose tissue. Quantitative measurements of DA, NDA as well as the proportion of dense area in the breast (percent density, PD) adjusted for age and body mass index (BMI) have all been associated with breast cancer (BC) risk. Previous genome-wide association studies (GWAS) have identified genetic loci that show association with both mammographic density (MD) phenotypes and BC, but little is known about the genome-wide and local genetic correlation between MD phenotypes and BC. Methods: We estimated the genome-wide and local genetic correlation between MD phenotypes adjusted for age and BMI and BC, leveraging GWAS summary statistics for MD phenotypes based on 12,866 women (MODE consortium) and for BC based on 122,977 cases and 105,974 controls (BCAC consortium). We also conducted partitioned heritability analysis to identify specific functional annotations that contribute to MD heritability. Results: We observed a negative genetic correlation between DA and NDA (-0.62, p=0.002). Both DA and PD showed positive genetic correlations with overall BC (DA: rg=0.24, p=0.004; PD: rg=0.27, p=0.0001), estrogen receptor-positive (ER+) BC (DA: rg=0.23, p=0.005; PD: rg=0.23, p=0.001), and ER- BC (DA: rg=0.26, p=0.01; PD: rg=0.32, p=0.0006). In contrast, NDA showed a nonsignificant negative genetic correlation with BC (rg=-0.11, p=0.21). Local genetic correlation analyses between MD phenotypes and BC reflected known findings including positive correlation at 10q21 region between both PD and DA and BC (both p<5x10-7), negative correlation at 22q13.1 between DA and BC (p=4.6x10-6), and positive correlation at 8p11.23 between NDA and BC (p=2.8x10-6). Two known BC regions that have not previously been associated with MD showed suggestive genetic correlations between BC and DA: 1q21.2 (negative genetic correlation, p=1.3x10-4) and 12q21.31 (positive genetic correlation, p=6.7x10-4). In exploratory analyses estimating the genome-wide genetic correlation between MD and hormone-related phenotypes in UK Biobank (n=337,199), we observed nominally significant positive genetic correlations between PD and benign mammary dysplasia (rg=0.45, p=0.01), NDA and endometriosis (rg=0.45, p=0.02), and negative genetic correlation between NDA and menstrual cycle length (rg=-0.30, p=0.05). We identified multiple functional annotations that contribute to MD heritability including histone mark H3K27ac that marks active enhancers (~2,5-fold enrichment in heritability for both DA and NDA) and DNAsel Hypersensitive Sites (DHS, 9.1-fold enrichment in heritability for DA). Conclusion: Our results provide evidence of shared genetic basis between mammographic density and breast cancer. Citation Format: Hongjie Chen, Julie Douglas, William Gordon, Deborah Thompson, Fergus Couch, Peter Fasching, Per Hall, John Hopper, Gertraud Maskarenic, Marina Pollan, Jennifer Stone, Rulla Tamimi, Sara Lindstroem. Evidence for a shared genetic basis between breast cancer and mammographic density phenotypes [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 224.

To estimate adjustment factors and genetic parameters for gestation length (GES), AI and calving date records (n = 40,356) were extracted from the Canadian Charolais Association field database. The average time from AI to calving date was 285.2 d (SD = 4.49 d) and ranged from 274 to 296 d. Fixed effects were sex of calf, age of dam (2, 3, 4, 5 to 10, > or = 11 yr), and gestation contemporary group (year of birth x herd of origin). Variance components were estimated using REML and 4 animal models (n = 84,332) containing from 0 to 3 random maternal effects. Model 1 (M1) contained only direct genetic effects. Model 2 (M2) was G1 plus maternal genetic effects with the direct x maternal genetic covariance constrained to zero, and model 3 (M3) was G2 without the covariance constraint. Model 4 (M4) extended G3 to include a random maternal permanent environmental effect. Direct heritability estimates were high and similar among all models (0.61 to 0.64), and maternal heritability estimates were low, ranging from 0.01 (M2) to 0.09 (M3). Likelihood ratio tests and parameter estimates suggested that M4 was the most appropriate (P < 0.05) model. With M4, phenotypic variance (18.35 d2) was partitioned into direct and maternal genetic, and maternal permanent environmental components (hd2 = 0.64 +/- 0.04, hm2 = 0.07 +/- 0.01, r(d,m) = -0.37 +/- 0.06, and c2 = 0.03 +/- 0.01, respectively). Linear contrasts were used to estimate that bull calves gestated 1.26 d longer (P < 0.02) than heifers, and adjustments to a mature equivalent (5 to 10 yr old) age of dam were 1.49 (P < 0.01), 0.56 (P < 0.01), 0.33 (P < 0.01), and -0.24 (P < 0.14) d for GES records of calves born to 2-, 3-, 4-, and > or = 11-yr-old cows, respectively. Bivariate animal models were used to estimate genetic parameters for GES with birth and adjusted 205-d weaning weights, and postweaning gain. Direct GES was positively correlated with direct birth weight (BWT; 0.34 +/- 0.04) but negatively correlated with maternal BWT (-0.20 +/- 0.07). Maternal GES had a low, negative genetic correlation with direct BWT (-0.15 +/- 0.05) but a high and positive genetic correlation with maternal BWT (0.62 +/- 0.07). Generally, GES had near-zero genetic correlations with direct and maternal weaning weights. Results suggest that important genetic associations exist for GES with BWT, but genetic correlations with weaning weight and postweaning gain were less important.

We studied phenotypic patterns and underlying quantitative genetics of development of sexual size dimorphism in red junglefowl (Gallus gallus). Using a multigenerational pedigree and the 'animal model' technique, we found significant heritability for many of the size and growth-related traits we examined, as well as significant genetic correlations among them. Despite sexual size dimorphism throughout posthatching ontogeny, the genetic correlation between males and females for all size measurements and growth parameters remained high. Significant positive phenotypic and genetic correlations between the fastest rate of growth and mass at week 26 (near asymptote) indicate that faster growth when young promotes larger adult size. However, age at which peak growth is reached does not appear to be phenotypically or genetically correlated with adult size. Positive genetic correlations within traits among ages were common, demonstrating that the genetic variance important to growth is relatively consistent among ages. However, male mass and tarsus length showed no genetic correlation between week 0 values and those from later ages. The body size traits of mass and tarsus length were genetically correlated with each other in females, but this pattern was not significant in males. Thus, despite striking sexual dimorphism in size and growth trajectories, size dimorphic traits in junglefowl show, with some exceptions, genetic integration between the sexes, among ages, and between traits.

The genetic parameters for growth, reproductive and maternal traits in a multibreed meat sheep population were estimated by applying the Average Information Restricted Maximum Likelihood method to an animal model. Data from a flock supported by the Programa de Melhoramento Genético de Caprinos e Ovinos de Corte (GENECOC) were used. The traits studied included birth weight (BW), weaning weight (WW), slaughter weight (SW), yearling weight (YW), weight gain from birth to weaning (GBW), weight gain from weaning to slaughter (GWS), weight gain from weaning to yearling (GWY), age at first lambing (AFL), lambing interval (LI), gestation length (GL), lambing date (LD - number of days between the start of breeding season and lambing), litter weight at birth (LWB) and litter weight at weaning (LWW). The direct heritabilities were 0.35, 0.81, 0.65, 0.49, 0.20, 0.15 and 0.39 for BW, WW, SW, YW, GBW, GWS and GWY, respectively, and 0.04, 0.06, 0.10, 0.05, 0.15 and 0.11 for AFL, LI, GL, LD, LWB and LWW, respectively. Positive genetic correlations were observed among body weights. In contrast, there was a negative genetic correlation between GBW and GWS (-0.49) and GBW and GWY (-0.56). Positive genetic correlations were observed between AFL and LI, LI and GL, and LWB and LWW. These results indicate a strong maternal influence in this herd and the presence of sufficient genetic variation to allow mass selection for growth traits. Additive effects were of little importance for reproductive traits, and other strategies are necessary to improve the performance of these animals.

Using correlation and path analysis, the genetic correlation between weight traits and morphological traits was determined in the marine gastropod Glossaulax reiniana. A total of 100 G. reiniana individuals from a wild population were used. Shell width (X 1), shell height (X 2), umbo-callus height (X 3), body width (X 4), operculum length (X 5), operculum width (X 6), body weight (Y 1) and soft-tissue weight (Y 2) were measured, and the correlation coefficient matrix calculated. Morphological traits were used as independent variables and weight traits as dependent variables for path coefficient analysis. Path coefficients, correlation indices and determination coefficients were also determined. Results indicate that the correlation coefficients associated with each morphological and weight trait were all highly significant (P <0.01). After deleting redundant independent variables, the following optimum multiple regression equations were obtained using stepwise multiple regression analysis: Y 1 = − 29.317+0.362 X 2 +0.349 X 4 + 1.190 X 5 for body weight; and Y 2 = − 17.292+0.166 X 1 +0.171 X 2 +0.703 X 5, for soft-tissue weight. Operculum height had the highest positive direct correlation with both body weight and soft-tissue weight, which was in accordance with the test results obtained from determinate coefficient analysis. The indication of high genetic correlations between weight traits and morphological traits will provide valuable information for G. reiniana breeding programs.

The genetic study was conducted using data generated on 669 and 718 birds of IWN and IWP strains, respectively at the Poultry Complex, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand. The traits measured were age at first egg (AFE), egg weight at 24 (EW24), 28 (EW28), 32 (EW32), 36 (EW36) and 40 weeks of age (EW40), total egg number produced up to 40 weeks of age (TEN40) and total egg mass produced up to 40 weeks of age (TEM40).The heritability estimates obtained for AFE was 0.458±0.13 and 0.179±0.09 in IWN and IWP strains, respectively. The heritability estimates for egg weight at 40 week of age was 0.367±0.12 in IWN strain and 0.100±0.07 in IWP strain, respectively. The heritability estimate for TEN40 was 0.290±0.11 and 0.122±0.07 in IWN and IWP strains, respectively. The heritability estimate for TEM40 was 0.241±0.10 and 0.074±0.07 in IWN and IWP strains, respectively. Genetic and phenotypic correlations of age at first egg with total egg number produced up to 40 weeks of age were found to be negative and high in magnitude. Negative genetic correlations were observed between age at first egg and egg weights at different ages in IWN strain. However, the positive genetic correlations were found in IWP strain in increasing trend with advancement in age.

Recent work suggests that sexual selection can influence the evolution of ageing and lifespan by shaping the optimal timing and relative costliness of reproductive effort in the sexes. We used inbred lines of the decorated cricket, Gryllodes sigillatus, to estimate the genetic (co)variance between age-dependent reproductive effort, lifespan, and ageing within and between the sexes. Sexual selection theory predicts that males should die sooner and age more rapidly than females. However, a reversal of this pattern may be favored if reproductive effort increases with age in males but not in females. We found that male calling effort increased with age, whereas female fecundity decreased, and that males lived longer and aged more slowly than females. These divergent life-history strategies were underpinned by a positive genetic correlation between early-life reproductive effort and ageing rate in both sexes, although this relationship was stronger in females. Despite these sex differences in life-history schedules, age-dependent reproductive effort, lifespan, and ageing exhibited strong positive intersexual genetic correlations. This should, in theory, constrain the independent evolution of these traits in the sexes and may promote intralocus sexual conflict. Our study highlights the importance of sexual selection to the evolution of sex differences in ageing and lifespan in G. sigillatus.

Both extrinsic and intrinsic factors predispose older people to fall. We performed a genome-wide association analysis to investigate how much of an individual’s fall susceptibility can be attributed to genetics in 89,076 cases and 362,103 controls from the UK Biobank Study. The analysis revealed a small, but significant SNP-based heritability (2.7%) and identified three novel fall-associated loci (Pcombined ≤ 5 × 10−8). Polygenic risk scores in two independent settings showed patterns of polygenic inheritance. Risk of falling had positive genetic correlations with fractures, identifying for the first time a pathway independent of bone mineral density. There were also positive genetic correlations with insomnia, neuroticism, depressive symptoms, and different medications. Negative genetic correlations were identified with muscle strength, intelligence and subjective well-being. Brain, and in particular cerebellum tissue, showed the highest gene expression enrichment for fall-associated variants. Overall, despite the highly heterogenic nature underlying fall risk, a proportion of the susceptibility can be attributed to genetics.

In 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. We 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. Among 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). We 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.

The evaluation of dairy cow feed efficiency using residual feed intake accounts for known energy sinks. However, behavioral traits may also contribute to the variation in feed efficiency. Our objective was to estimate the heritability and repeatability of behavioral traits and their genetic correlations with feed efficiency and its components in lactating Holstein cows. The first data set consisted of 36,075 daily rumination and lying time records collected using a SMARTBOW ear tag accelerometer (Zoetis, Parsippany, NJ) and 6,371 weekly feed efficiency records of 728 cows from the University of Wisconsin-Madison. The second data set consisted of 59,155 daily activity records, measured as number of steps, recorded by pedometers (AfiAct; S.A.E. Afikim, Kibbutz Afikim, Israel), and 8,626 weekly feed efficiency records of 635 cows from the University of Florida. Feed efficiency and its components included dry matter intake, change in body weight, metabolic body weight, secreted milk energy, and residual feed intake. The statistical models included the fixed effect of cohort, lactation number, and days in milk, and the random effects of animal and permanent environment. Heritability estimates for behavioral traits using daily records were 0.19 ± 0.06 for rumination and activity, and 0.37 ± 0.07 for lying time. Repeatability estimates for behavioral traits using daily data ranged from 0.56 ± 0.02 for activity to 0.62 ± 0.01 for lying time. Both heritability and repeatability estimates were larger when weekly records instead of daily records were used. Rumination and activity had positive genetic correlations with residual feed intake (0.40 ± 0.19 and 0.31 ± 0.22, respectively) while lying time had a negative genetic correlation with this residual feed intake (-0.27 ± 0.11). These results indicate that more efficient cows tend to spend more time lying and less time active. Additionally, less efficient cows tend to eat more and therefore also tend to ruminate longer. Overall, sensor-based behavioral traits are heritable and genetically correlated with feed efficiency and its components and, therefore, they could be used as indicators to identify feed efficient cows within the herd.

Genetic analysis of female reproductive efficiency, scrotal circumference and growth traits in Nelore cattle

Direct and maternal genetic effects for preinflection point growth traits and humoral immunity in quail

Morphological traits, as core components of functional traits, are fundamental in determining environmental adaptability. However, under climate warming, the adaptive morphological changes and associated ecological risks of locust populations migrating to higher altitudes remain poorly understood. Here, we investigated Calliptamus italicus, the dominant locust species in the desert steppes of the Ili River Basin, to explore the response patterns of its morphological functional traits along an altitudinal gradient and their relationships with environmental factors. Morphological measurements revealed that forewing area, width, and length, as well as hindwing width, exhibited highly significant positive correlations with altitude (p &lt; 0.01); in contrast, body length, head width, head height, pronotum length, pronotum width, hind femur length, and hind tibia length displayed significant negative correlations with altitude (p &lt; 0.05). All morphological indicators presented highly significant sexual dimorphism (p &lt; 0.001). Ratio analysis showed that the pronotum width-to-head width ratio (M/C), pronotum height-to-head width ratio (H/C), and forewing length-to-hind tibia length ratio (E/F) were significantly positively correlated with the altitudinal gradient (p &lt; 0.05), with all ratios exhibiting significant sexual differences (p &lt; 0.05). Random Forest analysis showed that PC1 (75.5% of variation) reflected traits for feeding, jumping, and reproduction, whereas PC2 (5.6%) represented flight-related traits, with significant sexual dimorphism. This study demonstrates that trait variation in C. italicus along an altitudinal gradient is closely linked to environmental factors. Our findings provide critical data for predicting habitat adaptation responses in locust populations, thereby enhancing the precision and efficacy of locust plague management and contributing to the conservation and restoration of desert steppe ecosystems.

Calving interval (CI) is a fertility trait that can be used in selection programmes to minimize the negative effects that selection for production have on fertility. CI can be derived from milk recording data, therefore this fertility trait can easily be implemented in the National Dairy Genetic Evaluations of South Africa. The aim of this study was to estimate genetic parameters for CI for estimation of breeding values and genetic trends to enable South African dairy breeders to assess and select for improved fertility. Breeds included in the study were Ayrshire, Guernsey, Holstein and Jersey. Genetic parameters and trends were based on the first three CIs for all breeds. The genetic software package, VCE4, was used to estimate genetic parameters for CI. Heritabilities ranged from 0.011 for CI1 to 0.069 for CI2, both for the Guernsey breed. Genetic correlations ranged from 0.606 between CI2 and CI3 for the Guernsey breed, to 0.810 between CI1 and CI2 for the Ayrshire breed. Breeding value estimation was done using the genetic software package, PEST. The estimated breeding values were combined into an index value, using weighting factors based on the amount of information available for each trait. Genetic trends were calculated by averaging the CIindices of measured cows per year of birth. These genetic trends indicated that CI increased genetically for all breeds. The genetic parameters will now be implemented for the estimation of CI breeding values, which can be included in selection programmes for improvement of fertility of dairy breeds in South Africa.Keywords: Ayrshire, genetic correlations, fertility, Guernsey, heritability, Holstein, Jersey