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Hughes, A. M.

Publications and source records attributed to Hughes, A. M..

2 recordsLinked to original sources

True Colors: commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential

Direct-to-consumer canine genetic testing is becoming increasingly popular among dog owners. The data collected therein provides intriguing insight into the current status of morphological variation present within purebred populations. Mars WISDOM PANELTM data from 11,790 anonymized dogs, representing 212 breeds and 4 wild canine species, were evaluated at genes associated with 7 coat color traits and 5 physical characteristics. Frequencies for all tested alleles at these 12 genes were determined by breed and by phylogenetic grouping. A sub-set of the data, consisting of 30 breeds, was divided into separate same-breed populations based on country of collection, body size, coat variation, or lineages selected for working or conformation traits. Significantly different (p [≤] 0.00167) allele frequencies were observed between populations for at least one of the tested genes in 26 of the 30 breeds. Next, standard breed descriptions from major American and international registries were used to determine colors and tail lengths (e.g. genetic bobtail) accepted within each breed. Alleles capable of producing traits incongruous with breed descriptions were observed in 143 breeds, such that random mating within breeds has probabilities of between 4.9e-7 and 0.25 of creating undesirable phenotypes. Finally, the presence of rare alleles within breeds, such as those for the recessive black coloration and natural bobtail, was combined with previously published identity-by-decent haplotype sharing levels to propose pathways by which the alleles may have spread throughout dog breeds. Taken together, this work demonstrates that: 1) the occurrence of low frequency alleles within breeds can reveal the influence of regional or functional selection practices; 2) it is possible to trace the mode by which characteristics have spread across breeds during historical breed formation; and 3) the necessity of addressing conflicting ideals in breed descriptions relative to actual genetic potential is crucial.\n\nAuthor SummaryFrom the sleek Doberman Pinscher to the coifed Poodle, the sunny Golden Retriever to the aristocratic Pekingese, the world of purebred dogs offers options that appeal to nearly all aesthetics. Pure dog breeds, of which there are over 400 worldwide, are created through selective breeding over multiple generations, toward an ideal goal of temperament, behavior, and physical appearance. Written descriptions of these breed-specific ideals are produced and maintained by dedicated breed enthusiasts, and provide guidelines that direct breeders in their selection choices. However, the genetic mechanisms that produce the spectrum of canine colors and patterns, sculpt the small triangular ears of a Siberian Husky or the long soft ears of a Basset Hound, are complicated and intertwined. This means that some breeds can carry rare, hidden traits for many generations, hampering selection efforts toward uniformity. We have determined the genotypes of >11,000 dogs, representing >200 breeds, at 12 genes that impact coat color and physical characteristics. In doing so, we can now present realistic trait frequencies within each breed, report occurrences of gene variants that can produce undesirable traits, and draw conclusions about the historic spread of characteristics across modern related breeds and those with distant shared ancestry.

genetics

Body mass index, earnings and partnership: genetic instrumental variable analysis in two nationally representative UK samples

In high-income countries there is an established link between high body mass index (BMI) and low income, but the direction of this association is unclear. Recent analyses in a large UK population using genetically-instrumented BMI supported a causal influence of BMI on household income, educational attainment and job class. Since analyses were based on an age-restricted and relatively wealthy population, it is unclear whether results are generalizable, and limited income data precluded decomposition of household income effects into own-income and partnership effects. Investigation is therefore warranted in more representative UK populations where associations may differ, and where individual and partner-based mechanisms can be studied separately.\n\nData came from two nationally-representative samples, the UK Household Longitudinal Survey (UKHLS) and the English Longitudinal Study of Ageing (ELSA). Analysis was conducted in each sample, with results then pooled by meta-analysis. We used externally-weighted polygenic scores based on the latest genome-wide association study for BMI to examine the influence of genetically-instrumented BMI on earnings, probability of employment, job class conditional on working, likelihood of partnership, and partners earnings.\n\nA one-unit (kg/m2) increase in genetically-instrumented BMI was associated with a roughly 9% decrease in own monthly earnings (pooled coefficient: 0.91, CI:0.86, 0.97) and lower probability of employment (OR: 0.89, CI:0.83, 0.96) or having a university degree (OR: 0.95, CI:0.90, 0.99). Employed individuals with higher genetically-instrumented BMI were less likely to have professional or managerial occupations (OR: 0.91, CI:0.86, 0.96). No associations were seen with partnership. A one-unit increase in BMI was associated with a 5% decrease in partners earnings, but estimates were imprecise (pooled coefficient: 0.95, CI:0.88,1.01).\n\nResults are consistent with a negative influence of body mass index on a range of labour market and educational outcomes for both men and women.\n\nKey MessagesO_LIHigher genetically-instrumented BMI was associated with lower earnings and odds of working\nC_LIO_LIAlso with lower odds of holding a managerial/professional occupation or a degree\nC_LIO_LINo associations were seen with probability of cohabiting partnership\nC_LI

epidemiology