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Using Multivariate Statistics

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Nothing in biology makes sense except in the light of evolution, quipped Theodosius Dobzhansky. The theory of evolution argues that each biological species was not suddenly and independently created but that all life forms are interrelated by virtue of having descended from common ancestors through the accumulation of modifications. Indeed, nothing we know about living organisms would make any sense if they were not so interrelated. And the theory that biological species are descended from common ancestors provides an indispensable heuristic to understand why living organisms are what they are and do what they do.

Nothing in Biology Makes Sense Except in the Light of Evolution

Annual age-grouping is a common organizational strategy in sport. However, such a strategy appears to promote relative age effects (RAEs). RAEs refer both to the immediate participation and long-term attainment constraints in sport, occurring as a result of chronological age and associated physical (e.g. height) differences as well as selection practices in annual age-grouped cohorts. This article represents the first meta-analytical review of RAEs, aimed to collectively determine (i) the overall prevalence and strength of RAEs across and within sports, and (ii) identify moderator variables. A total of 38 studies, spanning 1984-2007, containing 253 independent samples across 14 sports and 16 countries were re-examined and included in a single analysis using odds ratios and random effects procedures for combining study estimates. Overall results identified consistent prevalence of RAEs, but with small effect sizes. Effect size increased linearly with relative age differences. Follow-up analyses identified age category, skill level and sport context as moderators of RAE magnitude. Sports context involving adolescent (aged 15-18 years) males, at the representative (i.e. regional and national) level in highly popular sports appear most at risk to RAE inequalities. Researchers need to understand the mechanisms by which RAEs magnify and subside, as well as confirm whether RAEs exist in female and more culturally diverse contexts. To reduce and eliminate this social inequality from influencing athletes' experiences, especially within developmental periods, direct policy, organizational and practitioner intervention is required.

Annual age-grouping and athlete development: a meta-analytical review of relative age effects in sport.

The health, fitness and other advantages of youth sports participation are well recognised. However, there are considerable challenges for all stakeholders involved— especially youth athletes—in trying to maintain inclusive, sustainable and enjoyable participation and success for all levels of individual athletic achievement. In an effort to advance a more unified, evidence-informed approach to youth athlete development, the IOC critically evaluated the current state of science and practice of youth athlete development and presented recommendations for developing healthy, resilient and capable youth athletes, while providing opportunities for all levels of sport participation and success. The IOC further challenges all youth and other sport governing bodies to embrace and implement these recommended guiding principles.

https://bjsm.bmj.com/content/bjsports/49/13/843.full.pdf

International Olympic Committee consensus statement on youth athletic development

Talent identification (TID) programs are an integral part of the selection process for elite-level athletes. While many sport organizations utilize TID programs, there does not seem to be a clear set of variables that consistently predict future success. This review aims to synthesize longitudinal and retrospective studies examining differences between performance variables in highly skilled and less-skilled athletes in elite-level sport. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to identify relevant studies (N = 20). There was a clear overrepresentation of studies that (1) examined physical profiles of athletes (60%); (2) focused on male samples (65%); (3) examined athletes between the ages of 10 and 20 years (60%); and (4) were published between the years 2010 and 2015 (65%). On closer examination, there was a high degree of variability in the factors that were found to discriminate between skilled and less-skilled individuals. Findings from this review highlight how little is known about TID in elite sport and emphasize the need for greater diversity in TID research.

Talent Identification in Sport: A Systematic Review

The policies that dictate the participation structure of many youth sport systems involve the use of a set selection date (e.g. 31 December), which invariably produces relative age differences between those within the selection year (e.g. 1 January to 31 December). Those born early in the selection year (e.g. January) are relatively older—by as much as 12 months minus 1 day—than those born later in the selection year (e.g. December). Research in the area of sport has identified a number of significant developmental effects associated with such relative age differences. However, a theoretical framework that describes the breadth and complexity of relative age effects (RAEs) in sport does not exist in the literature. This paper reviews and summarizes the existing literature on relative age in sport, and proposes a constraints-based developmental systems model for RAEs in sport.

The Relative Age Effect in Sport: A Developmental Systems Model

When athletes are placed into annual age groups to organize and coordinate sport participation, certain (dis)advantages occur as a result of the subtle age differences within these groups. These differences, termed “relative age effects”, have been consistently related to youth and adult sport attainment. However, there has been a lack of consistency in the terminology used in this area of research. In this paper, we consider the operational terms used in relative age research, discuss appropriate applications of terminology, and suggest directions for future research. Importantly, we argue for a unified understanding of what “relative age” means, stressing the need for clarity in directing future advances in the field.

Towards a unified understanding of relative age effects

Relative age effects (RAEs), reflecting observed inequalities in participation and attainment as a result of annual age-grouping policies in youth sport, are common in most team sports. The aims of this study were to determine if and when RAEs become apparent in Rugby League, determine how influential variables (e.g., gender) lead and clarify whether player retention at junior representative levels can explain persistent RAEs. Player data were collected for the male and female community games ranging from Under 7s to Senior (N=15,060) levels, junior representative selections (i.e., Regional) and professional players (N=298). Chi-square analyses found significant (P<0.05) uneven birth date distributions beginning at the earliest stages of the game and throughout into senior professionals. In junior representative selections, 47.0% of Regional and 55.7% of National representative players were born in Quartile 1, with RAE risk increasing with performance level. Gender and nationality were also found to moderate RAE risk. When tracking representative juniors, over 50% were retained for similar competition the following season. Findings clearly demonstrate that RAEs exist throughout Rugby League with early selection, performance level and retention processes, appearing to be key contributing factors responsible for RAE persistence.

/pdf/the-prevalence-influential-factors-and-mechanisms-of-2nsmcz0gzp.pdf

Nick Wattie

Papers

Annual age-grouping and athlete development: a meta-analytical review of relative age effects in sport.

Talent Identification in Sport: A Systematic Review

The Relative Age Effect in Sport: A Developmental Systems Model

Towards a unified understanding of relative age effects

The prevalence, influential factors and mechanisms of relative age effects in UK Rugby League.