scholarly journals Major gene effects on exercise ventilatory threshold: the HERITAGE Family Study

2002 ◽  
Vol 93 (3) ◽  
pp. 1000-1006 ◽  
Author(s):  
Mary F. Feitosa ◽  
Steven E. Gaskill ◽  
Treva Rice ◽  
Tuomo Rankinen ◽  
Claude Bouchard ◽  
...  
Keyword(s):  
Oxygen Uptake ◽  
Ventilatory Threshold ◽  
Major Gene ◽  
Fat Free Mass ◽  
Gene Effects ◽  
Covariate Effects ◽  
Genome Wide ◽  
A Genome ◽  
Training Response ◽  
Using Data

This study investigates whether there are major gene effects on oxygen uptake at the ventilatory threshold (V˙o 2 VT) and theV˙o 2 VT maximal oxygen uptake (VT%V˙o 2 max), at baseline and in response to 20 wk of exercise training by using data on 336 whites and 160 blacks. Segregation analysis was performed on the residuals ofV˙o 2 VT and VT%V˙o 2 max. In whites, there was strong evidence of a major gene, with 3 and 2% of the sample in the upper distribution, that accounted for 52 and 43% of the variance in baseline V˙o 2 VT and VT%V˙o 2 max, respectively. There were no genotype-specific covariate effects (sex, age, weight, fat mass, and fat-free mass). The segregation results were inconclusive for the training response in whites, and for the baseline and training response in blacks, probably due to insufficient power because of reduced sample sizes or smaller gene effect or both. The strength of the genetic evidence for V˙o 2 VT and VT%V˙o 2 max suggests that these traits should be further investigated for potential relations with specific candidate genes, if they can be identified, and explored through a genome-wide scan.

scholarly journals Fine Mapping Using Whole-Genome Sequencing Confirms Anti-Müllerian Hormone as a Major Gene for Sex Determination in Farmed Nile Tilapia (Oreochromis niloticus L.)

2019 ◽  
Vol 9 (10) ◽  
pp. 3213-3223 ◽  
Author(s):  
Giovanna Cáceres ◽  
María E. López ◽  
María I. Cádiz ◽  
Grazyella M. Yoshida ◽  
Ana Jedlicki ◽  
...  
Keyword(s):  
Sex Determination ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Oreochromis Niloticus ◽  
Nile Tilapia ◽  
Major Gene ◽  
Whole Genome ◽  
Important Species ◽  
Genome Wide ◽  
A Genome

Nile tilapia (Oreochromis niloticus) is one of the most cultivated and economically important species in world aquaculture. Intensive production promotes the use of monosex animals, due to an important dimorphism that favors male growth. Currently, the main mechanism to obtain all-male populations is the use of hormones in feeding during larval and fry phases. Identifying genomic regions associated with sex determination in Nile tilapia is a research topic of great interest. The objective of this study was to identify genomic variants associated with sex determination in three commercial populations of Nile tilapia. Whole-genome sequencing of 326 individuals was performed, and a total of 2.4 million high-quality bi-allelic single nucleotide polymorphisms (SNPs) were identified after quality control. A genome-wide association study (GWAS) was conducted to identify markers associated with the binary sex trait (males = 1; females = 0). A mixed logistic regression GWAS model was fitted and a genome-wide significant signal comprising 36 SNPs, spanning a genomic region of 536 kb in chromosome 23 was identified. Ten out of these 36 genetic variants intercept the anti-Müllerian (Amh) hormone gene. Other significant SNPs were located in the neighboring Amh gene region. This gene has been strongly associated with sex determination in several vertebrate species, playing an essential role in the differentiation of male and female reproductive tissue in early stages of development. This finding provides useful information to better understand the genetic mechanisms underlying sex determination in Nile tilapia.

Two Genetic Loci associated with Medial Collateral Ligament Injury

2017 ◽  
Vol 38 (07) ◽  
pp. 501-507 ◽  
Author(s):  
Andrew Roos ◽  
Andy Avins ◽  
Marwa Ahmed ◽  
John Kleimeyer ◽  
Thomas Roos ◽  
...  
Keyword(s):  
Medial Collateral Ligament ◽  
Ligament Injury ◽  
Genetic Loci ◽  
Collateral Ligament ◽  
Environment And Health ◽  
Medial Collateral Ligament Injury ◽  
Genome Wide ◽  
A Genome ◽  
Competitive Athletes ◽  
Using Data

AbstractMedial collateral ligament (MCL) injuries are a common knee injury, especially in competitive athletes. Identifying genetic loci associated with MCL injury could shed light on its etiology. A genome-wide association screen was performed using data from the Research Program in Genes, Environment and Health (RPGEH) including 1 572 cases of MCL injury and 100 931 controls. 2 SNPs (rs80351309 and rs6083471) showed an association with MCL injury at genome-wide significance (p<5×10−8) with moderate effects (odds ratios=2.12 and 1.57, respectively). For rs80351309, the genotypes were imputed with only moderate accuracy, so this SNP should be viewed with caution until its association with MCL injury can be validated. The SNPs rs80351309 and rs6083471 show a statistically significant association with MCL injury. It will be important to replicate this finding in future studies.

scholarly journals The Use of Genetic Markers to Measure Genomic Response to Selection in Livestock

Genetics ◽  
2002 ◽  
Vol 162 (3) ◽  
pp. 1381-1388
Author(s):  
Luis Gomez-Raya ◽  
Hanne Gro Olsen ◽  
Frode Lingaas ◽  
Helge Klungland ◽  
Dag Inge Våge ◽  
...  
Keyword(s):  
Growth Performance ◽  
Genetic Markers ◽  
Artificial Selection ◽  
Statistical Power ◽  
Gene Effects ◽  
Significance Level ◽  
Genome Wide ◽  
A Genome ◽  
Sperm Typing ◽  
Genomic Response

Abstract A method to measure genomic response to natural and artificial selection by means of genetic markers in livestock is proposed. Genomic response through several levels of selection was measured using sequential testing for distorted segregation of alleles among selected and nonselected sons, single-sperm typing, and a test with records for growth performance. Statistical power at a significance level of 0.05 was &gt;0.5 for a marker linked to a QTL with recombination fractions 0, 0.10, and 0.20 for detecting genomic responses for gene effects of 0.6, 0.7, and 1.0 phenotypic standard deviations, respectively. Genomic response to artificial selection in six commercial bull sire families comprising 285 half-sib sons selected for growth performance was measured using 282 genetic markers evenly distributed over the cattle genome. A genome-wide test using selected sons was significant (P &lt; 0.001), indicating that selection induces changes in the genetic makeup of commercial cattle populations. Markers located in chromosomes 6, 10, and 16 identified regions in those chromosomes that are changing due to artificial selection as revealed by the association of records of performance with alleles at specific markers. Either natural selection or genetic drift may cause the observed genomic response for markers in chromosomes 1, 7, and 17.

Oxygen Uptake Efficiency Slope in Healthy Children

2010 ◽  
Vol 22 (3) ◽  
pp. 431-441 ◽  
Author(s):  
Moniek Akkerman ◽  
Marco van Brussel ◽  
Bart C. Bongers ◽  
Erik H.J. Hulzebos ◽  
Paul J.M Helders ◽  
...  
Keyword(s):  
Oxygen Uptake ◽  
Ventilatory Threshold ◽  
Pediatric Population ◽  
Fat Free Mass ◽  
Healthy Children ◽  
Bicycle Ergometry ◽  
Exercise Tests ◽  
Uptake Efficiency ◽  
Cardiorespiratory Function ◽  
Oxygen Uptake Efficiency Slope

The objective of this study was to investigate the characteristics of the submaximal Oxygen Uptake Efficiency Slope (OUES) in a healthy pediatric population. Bicycle ergometry exercise tests with gas-analyses were performed in 46 healthy children aged 7–17 years. Maximal OUES, submaximal OUES, V̇O2peak, VEpeak, and ventilatory threshold (VT) were determined. The submaximal OUES correlated highly with V̇O2peak, VEpeak, and VT. Strong correlations were found with basic anthropometric variables. The submaximal OUES could provide an objective, independent measure of cardiorespiratory function in children, reflecting efficiency of ventilation. We recommend expressing OUES values relative to Body Surface Area (BSA) or Fat Free Mass (FFM).

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals

2011 ◽  
Vol 132 (6-7) ◽  
pp. 324-330 ◽  
Author(s):  
Almut Nebel ◽  
Rabea Kleindorp ◽  
Amke Caliebe ◽  
Michael Nothnagel ◽  
Hélène Blanché ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Major Gene ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome

scholarly journals Fine mapping using whole-genome sequencing confirms anti-Müllerian hormone as a major gene for sex determination in farmed Nile tilapia (Oreochromis niloticus L.)

2019 ◽  
Author(s):  
Giovanna Cáceres ◽  
María E. López ◽  
María I. Cadiz ◽  
Grazyella M. Yoshida ◽  
Ana Jedlicki ◽  
...  
Keyword(s):  
Sex Determination ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Oreochromis Niloticus ◽  
Nile Tilapia ◽  
Major Gene ◽  
Whole Genome ◽  
Important Species ◽  
Genome Wide ◽  
A Genome

ABSTRACTNile tilapia (Oreochromis niloticus) is one of the most cultivated and economically important species in world aquaculture. Faster male development during grow-out phase is considered a major problem that generate heterogeneous sizes of fish at harvest. Identifying genomic regions associated with sex determination in Nile tilapia is a research topic of great interest. The objective of this study was to identify genomic variants associated with sex determination in three commercial populations of Nile tilapia. Whole-genome sequencing of 326 individuals was performed, and a total of 2.4 million high-quality bi-allelic single nucleotide polymorphisms (SNPs) were identified. A genome-wide association study (GWAS) was conducted to identify markers associated with the binary sexual trait (males = 0; females = 1). A mixed logistic regression GWAS model was fitted and a genome-wide significant signal comprising 36 SNPs, located on chromosome 23 spanning a genomic region of 536 kb, was identified. Ten out of these 36 genetic variants, intercept the anti-Müllerian hormone gene. Other significant SNPs were located in the neighboring Amh gene region. This gene has been strongly associated with sex determination in several vertebrate species, playing an essential role in the differentiation of male and female reproductive tissue in early stages of development. This finding provides useful information to better understand the genetic mechanisms underlying sex determination in Nile tilapia.

Using the Oxygen Uptake Efficiency Slope as an Indicator of Cardiorespiratory Fitness in the Obese Pediatric Population

2012 ◽  
Vol 24 (3) ◽  
pp. 357-368 ◽  
Author(s):  
Peter G. Breithaupt ◽  
Rachel C. Colley ◽  
Kristi B. Adamo
Keyword(s):  
Oxygen Uptake ◽  
Body Mass ◽  
Ventilatory Threshold ◽  
Pediatric Population ◽  
Fat Free Mass ◽  
Healthy Weight ◽  
Obese Children ◽  
Uptake Efficiency ◽  
Cardiorespiratory Function ◽  
Oxygen Uptake Efficiency Slope

The aim of the current study was to investigate the relationship between the Oxygen Uptake Efficiency Slope (OUES) and traditional measures of cardiorespiratory function in an overweight/obese pediatric sample. Maximal treadmill exercise testing with indirect calorimetry was completed on 56 obese children aged 7–18 years. Maximal OUES, submaximal OUES, VO2peak, VEpeak, and ventilatory threshold (VT) were determined. In line with comparable research in healthy-weight samples, maximal and submaximal OUES were both correlated with VO2peak, VEpeak, and VT (r2= 0.44−0.91) in the obese pediatric sample. Correlations were also found with anthropometric variables, including height (cm), body surface area (m2), body mass (kg), and fat free mass (kg). In comparing our data to a published sample of healthy weight children, maximal and submaximal exercise OUES were both higher in our obese sample. However, when we adjusted for any of body mass (kg), BSA (m2), or FFM (kg) the obese children were found to be less efficient. The results of this study suggest the use of OUES to be an appropriate measure of efficiency of ventilation and cardiorespiratory function in obese children, while also showing that our sample of obese children were less efficient on a per kilogram basis when compared with their healthy weight peers.

scholarly journals Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs

2012 ◽  
Vol 112 (5) ◽  
pp. 892-897 ◽  
Author(s):  
Tuomo Rankinen ◽  
Yun Ju Sung ◽  
Mark A. Sarzynski ◽  
Treva K. Rice ◽  
D. C. Rao ◽  
...  
Keyword(s):  
Heart Rate ◽  
Association Study ◽  
Endurance Training ◽  
Genome Wide Association Study ◽  
Submaximal Exercise ◽  
Genome Wide Association ◽  
Exercise Heart Rate ◽  
Genome Wide ◽  
A Genome ◽  
Training Response

Endurance training-induced changes in hemodynamic traits are heritable. However, few genes associated with heart rate training responses have been identified. The purpose of our study was to perform a genome-wide association study to uncover DNA sequence variants associated with submaximal exercise heart rate training responses in the HERITAGE Family Study. Heart rate was measured during steady-state exercise at 50 W (HR50) on 2 separate days before and after a 20-wk endurance training program in 483 white subjects from 99 families. Illumina HumanCNV370-Quad v3.0 BeadChips were genotyped using the Illumina BeadStation 500GX platform. After quality control procedures, 320,000 single-nucleotide polymorphisms (SNPs) were available for the genome-wide association study analyses, which were performed using the MERLIN software package (single-SNP analyses and conditional heritability tests) and standard regression models (multivariate analyses). The strongest associations for HR50 training response adjusted for age, sex, body mass index, and baseline HR50 were detected with SNPs at the YWHAQ locus on chromosome 2p25 ( P = 8.1 × 10−7), the RBPMS locus on chromosome 8p12 ( P = 3.8 × 10−6), and the CREB1 locus on chromosome 2q34 ( P = 1.6 × 10−5). In addition, 37 other SNPs showed P values <9.9 × 10−5. After removal of redundant SNPs, the 10 most significant SNPs explained 35.9% of the ΔHR50 variance in a multivariate regression model. Conditional heritability tests showed that nine of these SNPs (all intragenic) accounted for 100% of the ΔHR50 heritability. Our results indicate that SNPs in nine genes related to cardiomyocyte and neuronal functions, as well as cardiac memory formation, fully account for the heritability of the submaximal heart rate training response.

scholarly journals Tamoxifen blocks retrograde trafficking of Shiga toxin 1 and 2 and protects against lethal toxicosis

2019 ◽  
Vol 2 (3) ◽  
pp. e201900439 ◽  
Author(s):  
Andrey S Selyunin ◽  
Steven Hutchens ◽  
Stanton F McHardy ◽  
Somshuvra Mukhopadhyay
Keyword(s):  
Shiga Toxin ◽  
Lethal Dose ◽  
Early Endosome ◽  
Base Property ◽  
Retrograde Trafficking ◽  
Golgi Transport ◽  
Late Endosomes ◽  
Genome Wide ◽  
A Genome ◽  
Using Data

Shiga toxin 1 (STx1) and 2 (STx2), produced by Shiga toxin–producingEscherichia coli, cause lethal untreatable disease. The toxins invade cells via retrograde trafficking. Direct early endosome-to-Golgi transport allows the toxins to evade degradative late endosomes. Blocking toxin trafficking, particularly at the early endosome-to-Golgi step, is appealing, but transport mechanisms of the more disease-relevant STx2 are unclear. Using data from a genome-wide siRNA screen, we discovered that disruption of the fusion of late endosomes, but not autophagosomes, with lysosomes blocked the early endosome-to-Golgi transport of STx2. A subsequent screen of clinically approved lysosome-targeting drugs identified tamoxifen (TAM) to be a potent inhibitor of the trafficking and toxicity of STx1 and STx2 in cells. The protective effect was independent of estrogen receptors but dependent on the weak base property of TAM, which allowed TAM to increase endolysosomal pH and alter endosomal dynamics. Importantly, TAM treatment enhanced survival of mice injected with a lethal dose of STx1 or STx2. Thus, it may be possible to repurpose TAM for treating Shiga toxin–producingE. coliinfections.

scholarly journals An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults

2006 ◽  
Vol 203 (7) ◽  
pp. 1679-1684 ◽  
Author(s):  
Jamila El Baghdadi ◽  
Marianna Orlova ◽  
Andrea Alter ◽  
Brigitte Ranque ◽  
Mohamed Chentoufi ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Major Gene ◽  
Susceptibility Gene ◽  
Total Sample ◽  
Dominant Mode ◽  
Molecular Evidence ◽  
Lod Score ◽  
Genome Wide ◽  
A Genome ◽  
Tuberculosis Susceptibility

The molecular basis of genetic predisposition to pulmonary tuberculosis in adults remains largely elusive. Few candidate genes have consistently been implicated in tuberculosis susceptibility, and no conclusive linkage was found in two previous genome-wide screens. We report here a genome-wide linkage study in a total sample of 96 Moroccan multiplex families, including 227 siblings with microbiologically and radiologically proven pulmonary tuberculosis. A genome-wide scan conducted in half the sample (48 families) identified five regions providing suggestive evidence (logarithm of the odds [LOD] score &gt;1.17; P &lt; 0.01) for linkage. These regions were then fine-mapped in the total sample of 96 families. A single region of chromosome 8q12-q13 was significantly linked to tuberculosis (LOD score = 3.49; P = 3 × 10−5), indicating the presence of a major tuberculosis susceptibility gene. Linkage was stronger (LOD score = 3.94; P = 10−5) in the subsample of 39 families in which one parent was also affected by tuberculosis, whereas it was much lower (LOD score = 0.79) in the 57 remaining families without affected parents, supporting a dominant mode of inheritance of the major susceptibility locus. These results provide direct molecular evidence that human pulmonary tuberculosis has a strong genetic basis, and indicate that the genetic component involves at least one major locus with a dominant susceptibility allele.

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