Association between coat colour and the behaviour of Australian Labrador retrievers

Abstract Background Making assumptions regarding temperament and intelligence based on the physical appearance of dogs can be a conscious or unconscious human act. Labrador retrievers with chocolate-coloured coats are anecdotally considered to be less trainable and more hyperactive and aggressive than their black or yellow peers. To test these assertions, we analysed the owner-reported behavioural traits of Labradors in relation to both their observable coat colour, and their TYRP1 and MC1R genotypes. Results We used the results of an owner-based questionnaire to determine scores for 21 behavioural traits and test whether these scores varied with coat colour (n = 225). Familiar dog aggression was the only trait that was found to vary significantly with coat colour (P = 0.013). Yellow Labradors had a higher score than chocolate Labradors, even when corrected for multiple testing (P = 0.021). We repeated the analyses for a subset of 63 Labradors with available genotyping data for the genes (MC1R and TYRP1) that are known to determine the primary coat colours in Labradors. Familiar dog aggression scores varied with both the observed coat colour and MC1R genotype. Dogs homozygous for MC1R recessive allele (with yellow coat colour) scored higher for familiar dog aggression than either black or chocolate Labradors. However, no association maintained significance when incorporating Bonferroni correction. Dog trainability scores decreased additively as the number of recessive brown alleles for TYRP1 increased. This allelic association was independent of the observable coat colour. Dogs homozygous for the brown allele were considered less trainable than dogs with no brown alleles (P = 0.030). Conclusions Our results do not support that chocolate-coloured Labradors are more hyperactive or aggressive than either black or yellow Labradors. Trainability scores varied with TYRP1 genotype but not the observable coat colour. Further validation is required.

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Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach

PLoS Genetics ◽

10.1371/journal.pgen.1009413 ◽

2021 ◽

Vol 17 (3) ◽

pp. e1009413

Author(s):

Jenil Patel ◽

Emine Bircan ◽

Xinyu Tang ◽

Mohammed Orloff ◽

Charlotte A. Hobbs ◽

...

Keyword(s):

Genetic Variants ◽

Multiple Testing ◽

Linear Models ◽

Heart Defects ◽

Environmental Exposures ◽

Potential Interaction ◽

Bonferroni Correction ◽

Relative Risks ◽

Transsulfuration Pathway ◽

Parent Of Origin

Previous research on risk factors for obstructive heart defects (OHDs) focused on maternal and infant genetic variants, prenatal environmental exposures, and their potential interaction effects. Less is known about the role of paternal genetic variants or environmental exposures and risk of OHDs. We examined parent-of-origin effects in transmission of alleles in the folate, homocysteine, or transsulfuration pathway genes on OHD occurrence in offspring. We used data on 569 families of liveborn infants with OHDs born between October 1997 and August 2008 from the National Birth Defects Prevention Study to conduct a family-based case-only study. Maternal, paternal, and infant DNA were genotyped using an Illumina Golden Gate custom single nucleotide polymorphism (SNP) panel. Relative risks (RR), 95% confidence interval (CI), and likelihood ratio tests from log-linear models were used to estimate the parent-of-origin effect of 877 SNPs in 60 candidate genes in the folate, homocysteine, and transsulfuration pathways on the risk of OHDs. Bonferroni correction was applied for multiple testing. We identified 3 SNPs in the transsulfuration pathway and 1 SNP in the folate pathway that were statistically significant after Bonferroni correction. Among infants who inherited paternally-derived copies of the G allele for rs6812588 in the RFC1 gene, the G allele for rs1762430 in the MGMT gene, and the A allele for rs9296695 and rs4712023 in the GSTA3 gene, RRs for OHD were 0.11 (95% CI: 0.04, 0.29, P = 9.16x10-7), 0.30 (95% CI: 0.17, 0.53, P = 9.80x10-6), 0.34 (95% CI: 0.20, 0.57, P = 2.28x10-5), and 0.34 (95% CI: 0.20, 0.58, P = 3.77x10-5), respectively, compared to infants who inherited maternally-derived copies of the same alleles. We observed statistically significant decreased risk of OHDs among infants who inherited paternal gene variants involved in folate and transsulfuration pathways.

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Comparative Efficacy of Neuraxial and General anesthesia for hip fracture surgery: A meta-analysis of randomized clinical trials

10.21203/rs.2.17433/v4 ◽

2020 ◽

Author(s):

Xinxun Zheng ◽

Yuming Tang ◽

Yuan Gao ◽

Zhiheng Liu

Keyword(s):

Hip Fracture ◽

Blood Loss ◽

General Anesthesia ◽

Multiple Testing ◽

Meta Analysis ◽

Perioperative Outcomes ◽

Bonferroni Correction ◽

Hip Fracture Surgery ◽

Evidence Quality ◽

Fracture Surgery

Abstract Background: The choice of anesthesia technique remains debatable in patients undergoing surgical repair of hip fracture. This meta-analysis was performed to compare the effect of neuraxial (epidural/spinal) versus general anesthesia on perioperative outcomes in patients undergoing hip fracture surgery.Methods: Medline, Cochrane Library, Science-Direct, and EMBASE databases were searched to identify eligible studies focused on the comparison between neuraxial and general anesthesia in hip fracture patients between January 2000 and May 2019. Perioperative outcomes were extracted for systemic analysis. The sensitivity analyses were conducted using a Bonferroni correction and the leave-one-out method. The evidence quality for each outcome was evaluated by the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system.Results: Nine randomized controlled trials (RCTs) including 1084 patients fulfilled our selection criteria. The outcomes for the meta-analysis showed that there were no significant differences in the 30-day mortality (OR = 1.34, 95% CI 0.56, 3.21; P = 0.51), length of stay (MD = -0.65, 95% CI -0.32, 0.02; P =0.06), and the prevalence of delirium (OR = 1.05, 95% CI 0.27, 4.00; P = 0.95), acute myocardial infarction (OR = 0.88, 95% CI 0.17, 4.65; P = 0.88), deep venous thrombosis (OR = 0.48, 95% CI 0.09, 2.72; P = 0.41), and pneumonia (OR = 1.04, 95% CI 0.23, 4.61; P = 0.96) for neuraxial anesthesia compared to general anesthesia, and there was a significant difference in blood loss between the two groups (MD = -137.8, 95% CI -241.49, -34.12; p = 0.009). However, after applying the Bonferroni correction for multiple testing, all the adjusted p-values were above the significant threshold of 0.05. The evidence quality for each outcome evaluated by the GRADE system was low.Conclusions: In summary, our present study demonstrated that there might be a difference in blood loss between patients receiving neuraxial and general anaesthesia, however, this analysis was not robust to adjustment for multiple testing and therefore at high risk for a type I error. Due to small sample size and enormous inconsistency in the choice of outcome measures, more high-quality studies with large sample size are needed to clarify this issue.

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Characterizing allelic association in the genome era

Genetics Research ◽

10.1017/s0016672310000637 ◽

2010 ◽

Vol 92 (5-6) ◽

pp. 461-470 ◽

Cited By ~ 3

Author(s):

B. S. WEIR ◽

C. C. LAURIE

Keyword(s):

Population Genetic ◽

Multiple Testing ◽

Genetic Parameters ◽

Allelic Association ◽

Whole Genome ◽

Genome Data ◽

Coefficients Of Variation ◽

Population Genetic Parameters

SummaryWhole genome data are allowing the estimation of population genetic parameters with an accuracy not imagined 50 years ago. Variation in these parameters along the genome is being found empirically where once only approximate theoretical values were available. Along with increased information, however, has come the issue of multiple testing and the realization that high values of the coefficients of variation of quantities such as relatedness measures may make it difficult to draw inferences. This review concentrates on measures of allelic association within and between individuals and within and between populations.

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Associations of Plasma Amino Acid and Acylcarnitine Profiles with Incident Reduced Glomerular Filtration Rate

Clinical Journal of the American Society of Nephrology ◽

10.2215/cjn.07650717 ◽

2018 ◽

Vol 13 (4) ◽

pp. 560-568 ◽

Cited By ~ 9

Author(s):

Feijie Wang ◽

Liang Sun ◽

Qi Sun ◽

Liming Liang ◽

Xianfu Gao ◽

...

Keyword(s):

Amino Acid ◽

Multiple Testing ◽

Principal Component ◽

Rate Of Change ◽

Bonferroni Correction ◽

Chinese Adults ◽

Asian Populations ◽

Relative Risks ◽

Chinese Cohort ◽

Long Chain

Background and objectivesMetabolomics is instrumental in identifying novel biomarkers of kidney function to aid in the prevention and management of CKD. However, data linking the metabolome to incident eGFR are sparse, particularly in Asian populations with different genetic backgrounds and environmental exposures. Therefore, we aimed to investigate the associations of amino acid and acylcarnitine profiles with change in eGFR in a Chinese cohort.Design, setting, participants, & measurementsThis study included 1765 community-living Chinese adults aged 50–70 years with baseline eGFR≥60 ml/min per 1.73 m2. At baseline, 22 amino acids and 34 acylcarnitines in plasma were quantified by gas or liquid chromatography coupled with mass spectrometry. Annual rate of change in eGFR was calculated, and incident eGFR decline was defined as eGFR<60 ml/min per 1.73 m2 by the end of 6 years of follow-up.ResultsThe mean (SD) unadjusted annual change in eGFR was 2.2±2.0 ml/min per 1.73 m2 and the incidence of reduced eGFR was 16%. After Bonferroni correction, 13 of 56 metabolites were significantly associated with annual eGFR change. After multivariable adjustment of baseline covariates, including baseline eGFR, seven of the 13 metabolites, including cysteine, long-chain acylcarnitines (C14:1OH, C18, C18:2, and C20:4), and other acylcarnitines (C3DC and C10), were significantly associated with incident reduced eGFR (relative risks ranged from 1.16 to 1.25 per SD increment of metabolites; P<3.8E-03 after Bonferroni correction of multiple testing of the 13 metabolites). Moreover, principal component analysis identified two factors, consisting of cysteine and long-chain acylcarnitines, respectively, that were associated with incident reduced eGFR.ConclusionsElevated plasma levels of cysteine and a panel of acylcarnitines were associated with a higher incidence of reduced eGFR in Chinese adults, independent of baseline eGFR and other conventional risk factors.

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WNT gene polymorphisms and predisposition to apical periodontitis

Scientific Reports ◽

10.1038/s41598-019-55293-6 ◽

2019 ◽

Vol 9 (1) ◽

Author(s):

Letícia Chaves de Souza ◽

Franco Cavalla ◽

Lorena Maili ◽

Gustavo P. Garlet ◽

Alexandre R. Vieira ◽

...

Keyword(s):

Protein Function ◽

Threshold Value ◽

Apical Periodontitis ◽

Luciferase Reporter ◽

Allelic Association ◽

Nucleotide Polymorphisms ◽

Bonferroni Correction ◽

Single Nucleotide ◽

Snp Association ◽

Reporter Assays

AbstractSingle nucleotide polymorphisms (SNPs) in WNT genes may impact gene/protein function and contribute to individual predisposition to apical periodontitis (AP). Here, we investigated the association of SNPs in/nearby WNT3, WNT3A, WNT5A, WNT8A, WNT9B and WNT11 genes with AP using a case-control dataset. Cases were defined as individuals with deep caries and AP (n = 188); controls had deep caries and no AP (n = 230). Genotyping was performed using Taqman chemistry in real time PCR. Data analyses was performed using Fisher Exact tests assuming a Bonferroni correction threshold value of 0.005. Single-SNP association analysis revealed a trend for association with WNT3 rs9890413 genotypes (P = 0.009) under a dominant model and allelic association for WNT3A rs1745420 (P = 0.009). Haplotypes involving WNT3-WNT9B-WNT3A alleles were also significantly associated with AP (P ≤ 0.003). Luciferase reporter assays showed higher transcriptional activity (1.4-fold) with the alternate G allele in rs1745420. Expression of WNT3, WNT3A and WNT5A in AP tissues was significantly higher than in control tissues, and inversely correlated with the expression of SERPINB1, COL1A1 and TIMP1 (P < 0.05). Our results suggest that WNT genes have a role in modulating AP and polymorphisms in these genes may increase susceptibility to AP.

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Γονοτυπικός έλεγχος ACE, APO-E, angiotensinogen, β3-adrenergic receptor σε ασθενείς με στεφανιαία νόσο

10.12681/eadd/38701 ◽

2013 ◽

Author(s):

Θεόφιλος Αθανασιάδης

Keyword(s):

Adrenergic Receptor ◽

Multiple Testing ◽

Bonferroni Correction ◽

Apo E

Η στεφανιαία νόσος αποτελεί τη συχνότερη πάθηση του καρδιαγγειακού συστήματος. Κύρια αιτία της νόσου είναι η αθηρωμάτωση, που σήμερα θεωρείται μια χρόνια φλεγμονώδης αντίδραση του αγγειακού τοιχώματος με στοιχεία αυτοανοσίας. Τη νόσο χαρακτηρίζει σημαντική ετερογένεια ως προς την αιτία και τη φύση των βλαβών και η έρευνα κατευθύνεται στο να αποκωδικοποιήσει την περιπλοκότητα της αθηρωματικής διαδικασίας. Έτσι, ένα σύμπλεγμα γενετικών παραγόντων σε αλληλοεπίδραση με παράγοντες του περιβάλλοντος, φαίνεται ότι προσδιορίζουν και καθορίζουν τη γενετική επιδεκτικότητα στη νόσο, καθώς επίσης την πορεία, την εξέλιξη, αλλά και την βαρύτητά της. Γενετικός έλεγχος ασθενών με στεφανιαία νόσο αποσκοπεί στην εντόπιση ατόμων με προδιάθεση στην εμφάνιση της Σ.Ν, με ενδεχόμενο την πρόληψη ή / και την κατάλληλη θεραπευτική παρέμβαση.Στην παρούσα μελέτη προσδιορίσθηκαν γενετικοί πολυμορφισμοί του συστήματος Ρενίνης-Αγγειοτενσίνης-Αλδοστερόνης (RAAS) : ACE, AGT, b3-AR, γενετικοί πολυμορφισμοί της APO-E, καθώς επίσης γενετικοί πολυμορφισμοί του MHC και πιο συγκεκριμένα οι γενετικοί τόποι HLA-A, -B, -Cw, -DR, -DQ. Τα ευρήματά μας έχουν ως εξής :Πολυμορφισμοί του ACE: Δεν παρατηρήθηκαν στατιστικώς σημαντικές διαφορές στους ασθενείς με Σ.Ν σε σχέση με τους μάρτυρες. Εξαιρετικό ενδιαφέρον παρουσιάζει το εύρημα ότι ο γονότυπος ΙΙ , ο οποίος σύμφωνα με την υπάρχουσα βιβλιογραφία θεωρείται ότι λειτουργεί προστατευτικά στην εμφάνιση Σ.Ν, εμφανίσθηκε με την ίδια συχνότητα στους ασθενείς και τους μάρτυρες. Πολυμορφισμοί της APO-E: Από τη βιβλιογραφία τα αλλήλια Ε2 , Ε3 , Ε4 αποτελούν ανεξάρτητους προδιαθεσικούς παράγοντες για την εκδήλωση εμφράγματος του μυοκαρδίου. Στη μελέτη μας παρατηρήθηκε ότι οι γονότυποι Ε2Ε4 και Ε3Ε3 συσχετίζονται στατιστικώς σημαντικά με την εμφάνιση της Σ.Ν. Ενδιαφέρον παρουσιάζει το εύρημα της συσχέτισης της Σ.Ν με τον γονότυπο Ε3Ε3 το οποίο δεν αναφέρεται στην προσιτή μας βιβλιογραφία. Με αυξημένη συχνότητα εμφανίστηκαν οι γονότυποι Ε2Ε3 και Ε3Ε4 χωρίς όμως οι διαφορές αυτές να ελέγχονται στατιστικώς σημαντικές.Πολυμορφισμοί του b3-AR: Δεν παρατηρήθηκαν στατιστικώς σημαντικές διαφορές στην ομάδα των ασθενών με Σ.Ν σε σχέση με τους μάρτυρες. Ειδικότερα ο γονότυπος ΑΑ, ο οποίος σε περιορισμένο αριθμό μελετών έχει συσχετισθεί με Σ.Ν, βρέθηκε μόνο σε ένα ασθενή και σε κανένα μάρτυρα. Πολυμορφισμοί του AGT: Δεν αναδείχθηκαν θετικές ή αρνητικές συσχετίσεις των γονοτύπων του AGT με τη Σ.Ν. Ο γονότυπος ΤΤ ο οποίος συσχετίσθηκε με τη νόσο σε νεαρούς ασθενείς αλλά και με το μέγεθος των λιποκυττάρων, εντοπίσθηκε σε δύο μόνο ασθενείς και σε ένα μάρτυρα.Πολυμορφισμοί των HLA αντιγόνων: Προέκυψε σημαντική αύξηση της συχνότητας των HLA-Α23, -Cw3, -DR4, -DR16, -DQ6, -DQ8 αντιγόνων και σημαντική μείωση της συχνότητας των HLA-Α3, -Cw12, -DR11 αντιγόνων στους ασθενείς με στεφανιαία νόσο. Στα ανωτέρω HLA αντιγόνα έγινε διόρθωση της τιμής του p για πολλαπλές δοκιμασίες (Bonferroni correction for multiple testing) και τελικώς για τα HLA-Cw3, -DR11, -DR16 αντιγόνα η συσχέτισή τους με τη στεφανιαία νόσο παρέμεινε στατιστικώς σημαντική. Έτσι θα μπορούσε να διατυπωθεί η άποψη ότι τα HLA-Cw3 και HLA-DR16 προδιαθέτουν σε εμφάνιση Σ.Ν, ενώ το HLA-DR11 προσφέρει προστασία από τη Σ.Ν.

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Tyrosine supplementation and hair coat pigmentation in puppies with black coats – A pilot study

Journal of Applied Animal Nutrition ◽

10.1017/jan.2015.8 ◽

2015 ◽

Vol 3 ◽

Cited By ~ 3

Author(s):

Adrian Watson ◽

Eric Servet ◽

Marta Hervera ◽

Vincent C. Biourge

Keyword(s):

Coat Colour ◽

Plasma Amino Acids ◽

Hair Colour ◽

Hair Coat ◽

Red Hair ◽

Hair Samples ◽

Cie Lab ◽

Labrador Retrievers ◽

Negative Linear Relationship ◽

Made In

SummaryThe appearance of a red hue to the hair in black coated cats and dogs has previously been reported as a “red hair syndrome”. Such changes in hair colour are related to an alteration in the proportions of two types of pigments produced by melanocytes; black eumelanin and brown pheomelanin. In black cats, it has been demonstrated that higher levels of phenylalanine + tyrosine (Phe+Tyr) than those recommended for growth are required to support eumelanin synthesis. The purpose of this study was to evaluate if a similar observation could be made in dogs. Twelve black coated puppies (Black Labrador retrievers and Newfoundlands) were divided into 3 groups of 4 and fed 3 diets with increasing concentrations of Phe+Tyr (A: 4 g/Mcal; B: 5.8 g/Mcal; C: 7 g/Mcal) for a period of 6 months. Quantification of plasma amino acids (Phe, Tyr, Cys) and spectrocolourimetry of hair samples from the Labrador retrievers (as the a* dimension of CIE Lab system) were performed at the beginning, during and at the end of the study. There was a significant negative linear relationship between plasma Tyr levels and a* values of hair in Labrador dogs on diets A and B, suggesting that a diet with total Phe+Tyr content of 6 g/Mcal (higher than the growth recommended allowance) was necessary to ensure an optimal black coat colour in these puppies and that levels up to 7 g/Mcal can lead to a more intense black coat colour. Moreover, similar to what was found in kittens, plasma levels of Tyr up to 54 μmol/l did not guarantee an optimal black colour coat and led to the “reddish hair” appearance in black coated puppies.

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