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Face shape differs in phylogenetically related populations.

ABSTRACT: 3D analysis of facial morphology has delineated facial phenotypes in many medical conditions and detected fine grained differences between typical and atypical patients to inform genotype-phenotype studies. Next-generation sequencing techniques have enabled extremely detailed genotype-phenotype correlative analysis. Such comparisons typically employ control groups matched for age, sex and ethnicity and the distinction between ethnic categories in genotype-phenotype studies has been widely debated. The phylogenetic tree based on genetic polymorphism studies divides the world population into nine subpopulations. Here we show statistically significant face shape differences between two European Caucasian populations of close phylogenetic and geographic proximity from the UK and The Netherlands. The average face shape differences between the Dutch and UK cohorts were visualised in dynamic morphs and signature heat maps, and quantified for their statistical significance using both conventional anthropometry and state of the art dense surface modelling techniques. Our results demonstrate significant differences between Dutch and UK face shape. Other studies have shown that genetic variants influence normal facial variation. Thus, face shape difference between populations could reflect underlying genetic difference. This should be taken into account in genotype-phenotype studies and we recommend that in those studies reference groups be established in the same population as the individuals who form the subject of the study.

SUBMITTER: Hopman SM

PROVIDER: S-EPMC4200424 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

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Face shape differs in phylogenetically related populations.

Hopman Saskia M J SM Merks Johannes H M JH Suttie Michael M Hennekam Raoul C M RC Hammond Peter P

European journal of human genetics : EJHG 20140108 11

3D analysis of facial morphology has delineated facial phenotypes in many medical conditions and detected fine grained differences between typical and atypical patients to inform genotype-phenotype studies. Next-generation sequencing techniques have enabled extremely detailed genotype-phenotype correlative analysis. Such comparisons typically employ control groups matched for age, sex and ethnicity and the distinction between ethnic categories in genotype-phenotype studies has been widely debate ...[more]

PMID: 24398794

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Project description:PurposeTo determine the extent of variability in meniscus size and anthropometric data between donors (supply) and patients (demand), to evaluate potential factors that may contribute to size discrepancies, and to determine whether the discrepancies lead to longer patient wait times.MethodsLateral and medial meniscal measurements, anthropometric data, and time to match a donor graft were extracted from a tissue supplier database. The frequency and distribution of meniscus size were analyzed. Body mass index (BMI), relative meniscus area, body mass to meniscus area index, and height to meniscus area index were compared between patient and donor pools via χ2 tests and independent samples t-test. The effect of size on time to match was analyzed using analysis of variance and post-hoc Tukey test.ResultsThe lateral meniscus patient population showed a greater frequency of larger size requirements compared to the donor population (P < .001) and the medial meniscus patient population showed a higher frequency of smaller meniscus size requirements (P < .001). The medial meniscus analysis showed significantly smaller meniscus areas (P < .001) in the patient population contributing to the observed trend of an increased body mass to meniscus area index and height to meniscus area index. The time to match a donor meniscus was affected by the patient meniscus size.ConclusionsThis analysis demonstrates variations in frequency of meniscus sizes between donor and patient populations. This variation is attributed to differences in anthropometric data between patient and donor populations. This work identifies a mismatch between demand and supply for certain patient sizes contributing to longer times to match.Clinical relevanceThis work associated donor and patient mismatches with longer wait times. This can be useful for patient counseling as well as provide a framework to determine whether there are solutions within the current meniscus donor pool that can be used to meet this clinical need.

Project description:BackgroundStaphylococcus aureus can infect and adapt to multiple host species. However, our understanding of the genetic and evolutionary drivers of its generalist lifestyle remains inadequate. This is particularly important when considering local populations of S. aureus, where close physical proximity between bacterial lineages and between host species may facilitate frequent and repeated interactions between them. Here, we aim to elucidate the genomic differences between human- and animal-derived S. aureus from 437 isolates sampled from disease cases in the northeast region of the United States.ResultsMulti-locus sequence typing revealed the existence of 75 previously recognized sequence types (ST). Our population genomic analyses revealed heterogeneity in the accessory genome content of three dominant S. aureus lineages (ST5, ST8, ST30). Genes related to antimicrobial resistance, virulence, and plasmid types were differentially distributed among isolates according to host (human versus non-human) and among the three major STs. Across the entire population, we identified a total of 1,912 recombination events that occurred in 765 genes. The frequency and impact of homologous recombination were comparable between human- and animal-derived isolates. Low-frequency STs were major donors of recombined DNA, regardless of the identity of their host. The most frequently recombined genes (clfB, aroA, sraP) function in host infection and virulence, which were also frequently shared between the rare lineages.ConclusionsTaken together, these results show that frequent but variable patterns of recombination among co-circulating S. aureus lineages, including the low-frequency lineages, that traverse host barriers shape the structure of local gene pool and the reservoir of host-associated genetic variants. Our study provides important insights to the genetic and evolutionary factors that contribute to the ability of S. aureus to colonize and cause disease in multiple host species. Our study highlights the importance of continuous surveillance of S. aureus circulating in different ecological host niches and the need to systematically sample from them. These findings will inform development of effective measures to control S. aureus colonization, infection, and transmission across the One Health continuum.

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Face shape differs in phylogenetically related populations.

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Face shape differs in phylogenetically related populations.

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