Körperproportionen der Leistungsstärkstenjuniorenruderer im bezug auf Wettkampfniveau,den Stil des Ruderns und die Bootsgattung

The performance of elite rowers is, beside others, determined by their physical characteristics. Anthropometric data for adult rowers emphasise the importance of body mass and body size for rowing performance. Little is known concerning the importance of proportional length development. At the 1997 World Junior Rowing Championships anthropometric measurements (body mass and 6 length dimensions) were performed on 383 elite male junior rowers. Based on these measurements several proportional length dimensions were calculated. Data on boat type were obtained by questionnaire and data on competition level were based on the results obtained during the championship. The results indicate that these rowers were heavier (Mean = 82.2±7.4 kg) and taller (Mean = 187.4±5.8 cm) and had a larger sitting height (Mean=96.8±3.2 cm) and longer legs (Mean= 90.7±3.8 cm) than a reference population. Finalists had significantly larger length dimensions than non-finalists and sweep rowers had in general larger length dimensions than scullers. No differences existed when the length dimensions were expressed proportional to the stature of the rowers. It can be concluded that elite junior rowers have larger length dimensions compared to less successful rowers, but these top athletes do not differentiate from the sub-elite athletes regarding proportional length development. Differences could be observed between sweep rowers and scullers with larger length dimensions in favour of sweep rowers.Uvod Natjecateljska uspješnost vrhunskih veslača određena je, između ostaloga, i njihovim tjelesnim karakteristikama. S biološkog stajališta možemo kod sportaša olimpijske i svjetske razine kvalitete očekivati optimalnu ekspresiju utjecaja nasljeđa, sportske pripreme, prehrane i socio-kulturnih faktora. Ispitivanje obilježja tih sportaša može pomoći kineziolozima, znanstvenicima i trenerima, u razumijevanju vrhunskog sportskog uspjeha time što im pruža informacije korisne za oblikovanje strategija za objašnjenje i predviđanje sportskih rezultata. U prošlosti su se antropometrijske studije bavile uglavnom veslačima seniorima, a manje juniorima. Te antropometrijske studije naglašavaju važnost tjelesne mase i veličine tijela za uspješnost u veslanju. Smatra se da osobitu prednost veslačima donose duži udovi zbog toga što su to duže poluge i što omogućuju veću radnu snagu. Duge noge pojačavaju potisnu fazu (provlak) veslačkog zaveslaja. Štoviše, veći veslači imaju veći presjek mišića i veći apsolutni energetski kapacitet. Proučavanje longitudinalnih dimenzija do sada je bilo uglavnom ograničeno na varijablu “visina tijela ili stas”. Samo je nekoliko studija o proporcijama longitudinalnih dimenzija vrhunskih veslača, pa se malo zna o važnosti longitudinalnih proporcija tijela veslača. Cilj je ove studije bio trostruk: (1) opisati razvojne proporcijske longitudinalne dimenzije juniora veslača u usporedbi s flamanskim mladićima, (2) usporediti tjelesne proporcije veslača prema različitim kvalitetnim natjecateljskim razinama, načinu veslanja i kategorijama čamca i (3) ustanoviti model antropometrijskog profila za veslače juniore. Metode Uzorak ispitanika činila su 383 veslača juniora, u dobi od 17,8 ± 0,7 godina, raspon godina od 15,1 do 18,6. Ispitanici su nastupili na FISA svjetskom ju-niorskom veslačkom prvenstvu 1997 godine. Istraživanjem je obuhvaćeno 90% sudionika (bez kormilara), od toga 83% pobjednika i osvajača meda-lja te 89% finalista. Svi su trenirali 7-10 puta tjedno (10-15 sati). Potpuni opis uzorka i mjerenja može se naći u članku Bourgois i suradnici (1998). Za ovaj članak upotrijebljene su sljedeće tjelesne dimenzije: tjelesna visina, sjedeća visina, duljina nadlaktice, duljina podlaktice, duljina šake i duljina potkoljenice. Mjerenja su provedena u standardnim uvjetima prema postupcima koje su opisali Claessens i suradnici (1998). Na temelju tih mjera izračunate su proporcijske longitudinalne dimenzije. Pregled varijabli prikazan je u tablici 1. Podaci o vrsti čamca prikupljeni su upitnikom, a podaci o kvalitetnoj razini temeljili su se na rezultatima postignutima na prvenstvu. Međunarodna juniorska veslačka natjecanja standardizirana su na stazi od 2 000 m i podijeljena su u discipline veslanja jednim veslom (rimen) i veslanja na pariće (skul). Te se veslačke tehnike međusobno dosta razlikuju – veslač u čamcu rimen, dakle, vesla samo jednim veslom, dok skuleri koriste dva kraća vesla koja povlače istodobno. Izračunati su parametri deskriptivne statistike (aritmetička sredina, standardna devijacija i raspon) za sve varijable i za ukupni uzorak veslača. Za usporedbu proporcijskih odnosa između rimen veslača i skul veslača te finalista i onih koji se nisu plasirali u finale upotrijebljen je Studentov t-test za nezavisne uzorke. Analiza varijance (ANOVA) i post-hoc Tukeyjev test primijenjeni su da bi se otkrile razlike u proporcionalnosti među veslačima u raznim vrstama čamaca. Za statističke analize korišten je računalni program Statistical Analysis System. Svi su testovi bili dvostruki, a značajnom se smatrala razlika na razini od p<0.05. Rezultati Deskriptivna statistika prikazana je u tablici 3. U tablici su uspoređene proporcije veslača u rimenu i skulu. Rimen veslači bili su značajno viši i teži od skulera. Kada su se longitudinalne dimenzije dovele u proporcijski odnos prema tjelesnoj visini, nisu primijećene značajne razlike između te dvije vrste veslača. Slični su se rezultati dobili i u usporedbi finalista i ne-finalista (tablica 5). Prema rezultatima analize varijance (tablica 6) razlike između dva stila veslanja (rimen nasuprot skul) nađene su između dvojca sa (2+) i četverca sa (4+), s jedne strane, te samca (1x), četverca na pariće (4x) i dvojca bez (2-), s druge strane. Sportaši koji veslaju u dvojcu sa (2+) i četvercu sa (4+) bili su, u prosjeku, teži i viši od veslača u samcu (1x), četvercu na pariće (4x) i dvojcu bez (2-). Nisu dobivene razlike u proporcijskim odnosima longitudinalnih dimenzija prema vrsti čamaca. U tablici 7 predstavljen je model profila proporcijskih odnosa longitudinalnih dimenzija za veslače juniore koji su nastupili na FISA svjetskom juniorskom veslačkom prvenstvu. Rasprava i zaključak Rezultati pokazuju da su promatrani veslači teži i viši te da imaju veću sjedeću visinu i duže noge od opće populacije. Finalisti su imali značajno veće longitudinalne dimenzije od ne-finalista, a rimen veslači su općenito imali veće longitudinalne dimenzije od skulera. Nisu, međutim, dobivene razlike kada su longitudinalne dimenzije postavljene u proporcijski odnos prema tjelesnoj visini. Veslanje je sport izdržljivosti i longitudinalne dimenzije su nedvojbeno povezane s uspješnošću. Duge noge pojačavaju potisak u fazi provlaka tijekom veslačkog zaveslaja, što znači da su veslači s dugim nogama u biomehaničkoj prednosti. Usporedba tjelesnih proporcija izmjerenih veslača juniora s vrijednostima o kojima su izvijestili drugi autori (Carter i dr., 1982; Rodriguez, 1986) otkriva da veslači juniori imaju manju sjedeću visinu u odnosu na ukupnu tjelesnu visinu ili stas (Valoisov indeks) (51,6%) i veću duljinu nogu u odnosu na stas (48,4%) od normativne usporedne skupine (Ostyn i dr., 1980) (52,1% i 47,9%) i od teških olimpijskih veslača (Carter i dr, 1982) (52,1% i 47,.9%). Nisu dobivene razlike između veslača juniora i vrhunskih lakih veslača (51,5% i 48,5%). Može se zaključiti da su kvalitetniji veslači uglavnom viši i, povezano s tom razlikom, imaju veće longitudinalne dimenzije od manje uspješnih veslača, ali se oni ne razlikuju međusobno kada se te vrijednosti izraze proporcionalno u odnosu na njihovu tjelesnu visinu. Uočene su razlike između rimen veslača i skul veslača – rimen veslači su višega stasa i imaju veće apsolutne vrijednosti longitudinalnih dimenzija. Uz to što je izrađen profil veslača juniora, rezultati ove studije mogu pomoći trenerima i kineziolozima da steknu bolji uvid u to koje su morfološke karakteristike povezane s uspješnošću u veslanju. Rezultati se također mogu primijeniti za određenje antropometrijskog profila veslača i kao instrument za selekciju dječaka talentiranih za veslanje.Die Leistung der leistungsstärksten Ruderer ist unter anderem von ihren körperlichen Eigenschaften bestimmt. Körperbaudaten für erwachsene Ruderer stellen den Nachdruck auf die Wichtigkeit des Körpergewichts und der Körperhöhe für das Rudern. Es bleibt noch unklar, wie wichtig die proportionale Längenzunahme ist. Während der Junioren Weltmeisterschaften im 1997 wurden die Körperbau-Messungen (Körpergewicht und 6 Extremitätenlängen) auf 383 leistungsstärksten Junioren-Ruderer vorgenommen. Auf Grund dieser Messungen einige proportionale Extremitätenlängen wurden berechnet. Die Angaben über die Bootsgat-tung wurden einem Fragebogen entnommen, während die Angaben über dem Wettkampf-Niveau auf den während der Meisterschaft gewonnenen Ergebnissen basierten. Den Ergebnissen nach wogen diese Ruderer mehr (Mittelwert = 82,2±7,4 kg), sie waren größer (Mittelwert = 187,4±5,8 cm) und hatten eine größere Sitzhöhe (Mittelwert = 96,8±3,2 cm) und längere Beine (Mittelwert = 90,7±3,8 cm) als die Referenz-Grundgesamtheit. Die Finalisten hatten bedeutend größere Extremitätenlängenwerte als die Nicht-Finalisten, während die Riemenruderer im allgemeinen größere Extremitätenlängenwerte hatten als die Skuller. Keine Unterschiede waren zu merken, wenn die Extremitätenlängenwerte proportional der Körperhöhe der Ruderer dargestellt wurden. Daraus lässt sich schließen, dass die leistungsstärksten Junioren größere Extremitätenlängenwerte haben im Vergleich zu den weniger erfolgreichen Ruderern, aber diese Spitzensportler unterscheiden sich keineswegs von weniger erfolgreichen Sportlern im Bezug auf die proportionale Längenzunahme. Die Unterschiede sind bei den Riemenruderern und den Skullern zu merken, wobei die Skuller größere Extremitätenlängenwerte aufzeigen

Genetic variants for head size share genes and pathways with cancer

The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants investigation of clinical implications of the link between head size and cancer.</p

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores

Objective: More than 90% of people who attempt suicide have a psychiatric diagnosis;however, twin and family studies suggest that the genetic etiology of suicide attempt is partially distinct from that of the psychiatric disorders themselves. The authors present the largest genome-wide association study (GWAS) on suicide attempt, using cohorts of individuals with major depressive disorder, bipolar disorder, and schizophrenia from the Psychiatric Genomics Consortium. Methods: The samples comprised 1,622 suicide attempters and 8,786 nonattempters with major depressive disorder;3,264 attempters and 5,500 nonattempters with bipolar disorder;and 1,683 attempters and 2,946 nonattempters with schizophrenia. A GWAS on suicide attempt was performed by comparing attempters to nonattempters with each disorder, followed by a meta-analysis across disorders. Polygenic risk scoring was used to investigate the genetic relationship between suicide attempt and the psychiatric disorders. Results: Three genome-wide significant loci for suicide attempt were found: one associated with suicide attempt in major depressive disorder, one associated with suicide attempt in bipolar disorder, and one in the meta-analysis of suicide attempt in mood disorders. These associations were not replicated in independent mood disorder cohorts from the UK Biobank and iPSYCH. No significant associations were found in the meta-analysis of all three disorders. Polygenic risk scores for major depression were significantly associated with suicide attempt in major depressive disorder (R-2=0.25%), bipolar disorder (R-2=0.24%), and schizophrenia (R-2=0.40%). Conclusions: This study provides new information on genetic associations and demonstrates that genetic liability for major depression increases risk for suicide attempt across psychiatric disorders. Further collaborative efforts to increase sample size may help to robustly identify genetic associations and provide biological insights into the etiology of suicide attempt

GWAS of Suicide Attempt in Psychiatric Disorders Identifies Association With Major Depression Polygenic Risk Scores

Objective: Over 90% of suicide attempters have a psychiatric diagnosis, however twin and family studies suggest that the genetic etiology of suicide attempt (SA) is partially distinct from that of the psychiatric disorders themselves. Here, we present the largest genome-wide association study (GWAS) on suicide attempt using major depressive disorder (MDD), bipolar disorder (BIP) and schizophrenia (SCZ) cohorts from the Psychiatric Genomics Consortium. Method: Samples comprise 1622 suicide attempters and 8786 non-attempters with MDD, 3264 attempters and 5500 non-attempters with BIP and 1683 attempters and 2946 non-attempters with SCZ. SA GWAS were performed by comparing attempters to non-attempters in each disorder followed by meta-analyses across disorders. Polygenic risk scoring was used to investigate the genetic relationship between SA and the psychiatric disorders. Results: Three genome-wide significant loci for SA were found: one associated with SA in MDD, one in BIP, and one in the meta-analysis of SA in mood disorders. These associations were not replicated in independent mood disorder cohorts from the UK Biobank and iPSYCH. No significant associations were found in the meta-analysis of all three disorders. Polygenic risk scores for major depression were significantly associated with SA in MDD (R2=0.25%, P=0.0006), BIP (R2=0.24%, P=0.0002) and SCZ (R2=0.40%, P=0.0006). Conclusions: This study provides new information on genetic associations and demonstrates that genetic liability for major depression increases risk for suicide attempt across psychiatric disorders. Further collaborative efforts to increase sample size hold potential to robustly identify genetic associations and gain biological insights into the etiology of suicide attempt

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors

Objective: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and crossvalidated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS metaanalysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures. Methods: This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses. Results: Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values &lt;5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors. Conclusions: This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.</p

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors

OBJECTIVE: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures. METHODS: This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses. RESULTS: Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values \u3c5×10 CONCLUSIONS: This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.Peer reviewe

The genetics of the mood disorder spectrum:genome-wide association analyses of over 185,000 cases and 439,000 controls

Background Mood disorders (including major depressive disorder and bipolar disorder) affect 10-20% of the population. They range from brief, mild episodes to severe, incapacitating conditions that markedly impact lives. Despite their diagnostic distinction, multiple approaches have shown considerable sharing of risk factors across the mood disorders. Methods To clarify their shared molecular genetic basis, and to highlight disorder-specific associations, we meta-analysed data from the latest Psychiatric Genomics Consortium (PGC) genome-wide association studies of major depression (including data from 23andMe) and bipolar disorder, and an additional major depressive disorder cohort from UK Biobank (total: 185,285 cases, 439,741 controls; non-overlapping N = 609,424). Results Seventy-three loci reached genome-wide significance in the meta-analysis, including 15 that are novel for mood disorders. More genome-wide significant loci from the PGC analysis of major depression than bipolar disorder reached genome-wide significance. Genetic correlations revealed that type 2 bipolar disorder correlates strongly with recurrent and single episode major depressive disorder. Systems biology analyses highlight both similarities and differences between the mood disorders, particularly in the mouse brain cell-types implicated by the expression patterns of associated genes. The mood disorders also differ in their genetic correlation with educational attainment – positive in bipolar disorder but negative in major depressive disorder. Conclusions The mood disorders share several genetic associations, and can be combined effectively to increase variant discovery. However, we demonstrate several differences between these disorders. Analysing subtypes of major depressive disorder and bipolar disorder provides evidence for a genetic mood disorders spectrum

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development