scholarly journals A phenome-wide association study of four syndromic genes reveals pleiotropic effects of common and rare variants in the general population

2019 ◽  
Author(s):  
Catherine Tcheandjieu ◽  
Matthew Aguirre ◽  
Stefan Gustafsson ◽  
Priyanka Saha ◽  
Praneetha Potiny ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Genetic Testing ◽  
General Population ◽  
Body Fat ◽  
Rare Variants ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Reduced Body ◽  
Multiple Phenotype ◽  
Rare Alleles

AbstractThe clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a few phenotypes of a complex syndrome may not meet criteria for clinical diagnosis or genetic testing. Here, we present a phenome-wide association study (PheWAS) approach to systematically explore pleiotropy of common and rare alleles in genes associated with four well-described syndromic diseases (Alagille (AS), Marfan (MS), DiGeorge (DS), and Noonan (NS) syndromes) in the general population.Using human phenotype ontology (HPO) terms, we systematically mapped 60 phenotypes related to AS, MS, DS and NS in 337,198 unrelated white British from the UK Biobank (UKBB) based on their hospital admission records, self-administrated questionnaires, and physiological measurements. We performed logistic regression adjusting for age, sex, and the first 5 genetic principal components, for each phenotype and each variant in the target genes (JAG1, TBX1, FBN1, PTPN11, NOTCH2, and MAP2K1) and performed a gene burden testing.Overall, we observed multiple phenotype-genotype correlations, such as the association between variation in JAG1, FBN1, PTPN11 and SOS2 with diastolic and systolic blood pressure; and pleiotropy among multiple variants in syndromic genes. For example, rs11066309 in PTPN11 was significantly associated with a lower body mass index, an increased risk of hypothyroidism and a smaller size for gestational age, all in concordance with NS-related phenotypes. Similarly, rs589668 in FBN1 was associated with an increase in body height and blood pressure, and a reduced body fat percentage as observed in Marfan syndrome.Our findings suggest that the spectrum of associations of common and rare variants in genes involved in syndromic diseases can be extended to individual phenotypes within the general population.Author SummaryStandard medical evaluation of genetic syndromes relies upon recognizing a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. This may lead to missing diagnoses in patients with silent or a low expressed form of the syndrome. Here we take advantage of a rich electronic health record, various phenotypic measurements, and genetic information in 337,198 unrelated white British from the UKBB, to study the relation between single syndromic disease phenotypes and genes related to syndromic disease. We show multiple phenotype-genotypes associations in concordance with phenotypes variations found in syndromic diseases. For example, we show that mutation in FBN1 was associated with high standing/sitting height ratio and reduced body fat percentage as observed in individuals with Marfan syndrome. Our findings suggest that common and rare alleles in SD genes are causative of individual component phenotypes present in a general population; further research is needed to characterize the pleiotropic effect of alleles in syndromic genes in persons without the syndromic disease.

scholarly journals Gender difference in cardiovagal baroreflex gain in humans

2001 ◽  
Vol 91 (5) ◽  
pp. 2088-2092 ◽  
Author(s):  
Stacy D. Beske ◽  
Guy E. Alvarez ◽  
Tasha P. Ballard ◽  
Kevin P. Davy
Keyword(s):  
Blood Pressure ◽  
Body Mass Index ◽  
Gender Differences ◽  
Systolic Blood Pressure ◽  
Body Fat ◽  
Aerobic Fitness ◽  
Operating Point ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Lower Systolic Blood Pressure

We tested the hypothesis that women would demonstrate lower cardiovagal baroreflex gain compared with men. If so, we further hypothesized that the lower cardiovagal baroreflex gain in women would be associated with their lower aerobic fitness and higher body fat percentage compared with men. To accomplish this, we measured cardiovagal baroreflex gain (modified Oxford technique) in sedentary, nonobese (body mass index < 25 kg/m2) men (age = 26.0 ± 2.1 yr, n = 11) and women (age = 26.9 ± 1.6 yr, n = 14). Resting R-R interval and diastolic blood pressure were similar in the two groups, but systolic blood pressure was lower ( P < 0.05) in the women. Cardiovagal baroreflex gain was significantly lower in the women compared with the men (13.3 ± 1.5 vs. 20.0 ± 2.8 ms/mmHg, P< 0.05). The lower cardiovagal baroreflex gain in the women was not related ( P > 0.05) to their lower aerobic fitness and was only marginally related to their higher body fat percentage ( r = −0.34, P < 0.05). There were no gender differences in the threshold and saturation, operating range, or operating point (all P > 0.05), although the operating point fell significantly to left (i.e., at a lower systolic blood pressure) compared with men. Therefore, the findings of this study suggest that the gain of the cardiovagal baroreflex is reduced whereas other parameters were similar in women compared with men. The mechanisms responsible for the reduced cardiovagal baroreflex gain remain unclear.

scholarly journals Effect of Eight Weeks of Aerobic Exercise and Garlic Extract Use on the Blood Pressure, Fat Percentage, and Lipid Profile of Patients with Hypertension

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Farhad Towhidi ◽  
Khalid Mohammadzadeh Salamat ◽  
Ali Soroush ◽  
Ali Pourmotabbed
Keyword(s):  
Blood Pressure ◽  
Body Weight ◽  
Aerobic Exercise ◽  
Lipid Profile ◽  
Body Fat ◽  
Garlic Extract ◽  
Exercise Session ◽  
Control Group ◽  
Body Fat Percentage ◽  
Fat Percentage

Background: Obesity is known as one of the most important cardiovascular risk factors. Objectives: This quasi-experimental study was conducted to investigate the effect of an eight-week aerobic exercise and garlic extract use on the blood pressure, fat percentage, and lipid profile of patients with hypertension. Methods: A total of 50 men with a mean age of 53 ± 7.6 years were recruited from among obese patients with blood pressure. They were randomly divided into five groups of aerobic exercise, garlic extract, aerobic exercise plus garlic extract, placebo, and control. The experimental groups underwent aerobic exercise (3 sessions per week, each session for 35 - 60 min with a maximum heart rate of 50 - 75) or garlic extract supplementation (daily use of 6 g) for eight weeks. Blood samples were collected before interventions and 48 h after the last exercise session. Statistical analysis was done by the dependent t-test and ANCOVA. Results: Body weight, body fat percentage, systolic and diastolic blood pressures, and serum LDL significantly reduced in the aerobic exercise, garlic extract, and aerobic exercise plus garlic extract groups compared to the control group (P ≤ 0.05). Aerobic exercise and aerobic exercise plus garlic extract groups showed a significant decrease in total cholesterol level and serum triglyceride and an increase in serum HDL compared to the control group (P ≤ 0.05). Aerobic exercise plus garlic extract group indicated a higher increase in serum HDL and a higher decrease in the body weight, body fat percentage, and serum LDL compared with the control group (P ≤ 0.05). Aerobic exercise plus garlic extract group indicated a higher serum LDL decrease compared to the aerobic exercise group (P ≤ 0.01). Conclusions: Both aerobic exercise and garlic extract seem to be able to improve obesity, lipid profile, and hypertension. However, their concurrent use has no additional effects on the blood pressure control although it mostly influences lipid profile and body composition.

scholarly journals Effects of Fresh Mango Consumption on Blood Glucose, Insulin, and Other Cardiovascular Disease Risk Factors in Overweight and Obese Adults

2021 ◽  
Vol 5 (Supplement_2) ◽  
pp. 366-366
Author(s):  
Martin Jr Rosas ◽  
Sherry Pinneo ◽  
Celeste O'Mealy ◽  
Changqi Liu ◽  
Mark Kern ◽  
...  
Keyword(s):  
Risk Factors ◽  
Blood Pressure ◽  
Body Weight ◽  
Liver Function ◽  
Body Fat ◽  
Disease Risk ◽  
Lipid Profiles ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Obese Adults

Abstract Objectives Mangos contain many beneficial dietary compounds including vitamins, minerals, fiber, and are a unique source of certain polyphenols such as mangiferin. Accumulating evidence from in vitro and animal studies have demonstrated that mangos may have antidiabetic, anti-inflammatory, and cardioprotective properties. However, the effects of fresh mango consumption in humans are less clear. The objective of this study was to examine the effects of fresh mango consumption compared to an isocaloric snack (low-fat cookies) on body weight, body fat, blood pressure, glucose, insulin, lipid profiles, liver function enzymes, inflammation, and antioxidant activity in overweight and obese adults. Methods In a randomized crossover design, 27 overweight and obese adults (11 females, 16 males, age 26 ± 8.1 years) consumed 100 Kcal of fresh mangos (166g) or isocaloric low-fat cookies (24g) daily for 12 weeks. Following an overnight fast, a venous blood draw was taken at baseline, week 4, and week 12. Blood samples were analyzed for glucose, insulin, lipid profiles, liver function enzymes, C-reactive protein (CRP), and total antioxidant capacity (TAC). At each visit, body weight, body fat percentage, and blood pressure were measured. Results Twelve weeks of daily mango consumption significantly decreased blood glucose, CRP, and aspartate transaminase (AST) activity while TAC significantly increased (P &lt; 0.05). There were no significant changes in body weight, body fat percentage, blood pressure, insulin, lipid profile, or other liver function enzymes following mango consumption. Cookie consumption significantly increased insulin, CRP, and triglycerides (P &lt; 0.05). Conclusions Mango consumption improved certain chronic disease risk factors including reductions in fasting glucose and inflammation while lipid profiles and anthropometric measurements were not affected. These results suggest that relative to the control snack, daily mango consumption may improve certain risk factors associated with overweight and obesity and should be considered for future research as they contain unique bioactive compounds. Funding Sources This study was funded by the National Mango Board.

Expanded normal weight obesity and blood pressure in Chinese adults: a community-based cross-sectional study

2019 ◽  
Vol 25 (3) ◽  
pp. 256 ◽  
Author(s):  
Huijing He ◽  
Li Pan ◽  
Feng Liu ◽  
Jingang Ma ◽  
Zhiping Hu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Body Fat ◽  
Normal Weight ◽  
Shaanxi Province ◽  
High Risk Population ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Cross Sectional ◽  
Increased Risk ◽  
Normal Weight Obesity

The study aimed to explore the independent association between expanded normal weight obesity categories and blood pressure among adults aged 20–80 years in China. By cross-sectional design, a total of 4279 adults living in Shaanxi Province, China, were selected from communities via multi-stage stratified cluster sampling in 2014. Information on anthropometric, body composition and blood pressure was collected and analysed. Expanded normal weight obesity (ENWO) categories were used to identify the level of bodyweight based on the combination of body mass index (BMI) and body fat percentage (BFP) categories. The age- and sex-standardised prevalence of hypertension increased within ENWO groups, from 10.12% in the underweight-low body fat group to 45.92% in the obesity-high body fat group. In under or normal weight participants, body fat percentage was found independently associated with hypertension in men, with an adjusted odds ratio of 3.69 in the fourth quartile of BFP compared with the first one. However, this effect was not observed in women. BFP was independently associated with increased risk of hypertension, especially in men. People with normal BMI should be re-identified as a high-risk population based on BFP level when it comes to hypertension prevention in primary healthcare settings.

Comparison of structured and unstructured physical activity training on predicted VO2max and heart rate variability in adolescents – a randomized control trial

2017 ◽  
Vol 28 (3) ◽  
Author(s):  
Vivek Kumar Sharma ◽  
Senthil Kumar Subramanian ◽  
Krishnakumar Radhakrishnan ◽  
Rajathi Rajendran ◽  
Balasubramanian Sulur Ravindran ◽  
...  
Keyword(s):  
Physical Activity ◽  
Blood Pressure ◽  
Heart Rate ◽  
Heart Rate Variability ◽  
Body Fat ◽  
Aerobic Capacity ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Maximal Aerobic Capacity ◽  
And Gender

AbstractBackground:Physical inactivity contributes to many health issues. The WHO-recommended physical activity for adolescents encompasses aerobic, resistance, and bone strengthening exercises aimed at achieving health-related physical fitness. Heart rate variability (HRV) and maximal aerobic capacity (VO2max) are considered as noninvasive measures of cardiovascular health. The objective of this study is to compare the effect of structured and unstructured physical training on maximal aerobic capacity and HRV among adolescents.Methods:We designed a single blinded, parallel, randomized active-controlled trial (Registration No. CTRI/2013/08/003897) to compare the physiological effects of 6 months of globally recommended structured physical activity (SPA), with that of unstructured physical activity (USPA) in healthy school-going adolescents. We recruited 439 healthy student volunteers (boys: 250, girls: 189) in the age group of 12–17 years. Randomization across the groups was done using age and gender stratified randomization method, and the participants were divided into two groups: SPA (n=219, boys: 117, girls: 102) and USPA (n=220, boys: 119, girls: 101). Depending on their training status and gender the participants in both SPA and USPA groups were further subdivided into the following four sub-groups: SPA athlete boys (n=22) and girls (n=17), SPA nonathlete boys (n=95) and girls (n=85), USPA athlete boys (n=23) and girls (n=17), and USPA nonathlete boys (n=96) and girls (n=84).Results:We recorded HRV, body fat%, and VO2 max using Rockport Walk Fitness test before and after the intervention. Maximum aerobic capacity and heart rate variability increased significantly while heart rate, systolic blood pressure, diastolic blood pressure, and body fat percentage decreased significantly after both SPA and USPA intervention. However, the improvement was more in SPA as compared to USPA.Conclusions:SPA is more beneficial for improving cardiorespiratory fitness, HRV, and reducing body fat percentage in terms of magnitude than USPA in adolescent individuals irrespective of their gender and sports activities.

scholarly journals Physical fitness is inversely related with body mass index and body fat percentage in soccer players aged 16-18 years

2012 ◽  
Vol 65 (11-12) ◽  
pp. 470-475 ◽  
Author(s):  
Pantelis Nikolaïdis
Keyword(s):  
Body Mass Index ◽  
General Population ◽  
Physical Fitness ◽  
Body Mass ◽  
Body Fat ◽  
Sport Participation ◽  
Soccer Players ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Increased Risk

Introduction: Adolescents are at increased risk for the development of obesity, while sport has been suggested as an effective means against adolescent obesity. The objectives of this study were to examine (a) the prevalence of overweight/obesity, (b) the relationship between body mass index and body fat percentage, and (c) the association between body mass index, body fat and physical fitness in soccer players aged 16-18 yr. Material and Methods: Members (n=109, aged 17.0?0.5 yr) of competitive soccer clubs were examined for physical and physiological characteristics. Results: Based on international body mass index cut-off points, 18.3% (n=20) of participants were classified as overweight. Body mass index was highly correlated with body fat percentage (r=0.70, p<0.001). Body fat percentage was in inverse relationship with aerobic power (r=-0.21, p=0.029), maximal anaerobic power (r=-0.20, p=0.044) and local muscular endurance (r=-0.39, p<0.001), while corresponding values of body mass index were non-significant (r=-0.05, p=0.614; r=0.03, p=0.771; r=-0.12, p=0.220, respectively). However, both body fat percentage and body mass index were inversely related with fatigue index of Wingate anaerobic test (r=-0.26, p=0.009; r=-0.29, p=0.003, respectively). Conclusions: The strong relationship between body mass index and body fat percentage suggest the further use of body mass index in adolescent soccer players. The findings confirmed previous observations on general population about the negative effect of overweight and fatness on physical fitness. The prevalence of overweight among participants was similar with what is observed in general population. Therefore, sport participation cannot guarantee physiological body mass and body composition, and it is necessary to prescribe exercise targeting body mass and fat control.

scholarly journals Serum ferritin levels among schoolchildren and its correlation with lipid profile and adiposity

2021 ◽  
Vol 70 (3) ◽  
pp. 155-163
Author(s):  
Mariana Orta-Duarte ◽  
Rosa del Carmen Vázquez-Zapien ◽  
Hugo Ventura-Cisneros ◽  
Mario del Toro-Equihua ◽  
Benjamin Trujillo-Hernández ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Waist Circumference ◽  
Lipid Profile ◽  
Body Fat ◽  
Serum Ferritin ◽  
Overweight And Obesity ◽  
School Age Children ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Grasa Corporal

To determine the association between serum ferritin levels, lipid profile and adiposity in school-age children. Methods: A cross-sectional study was conducted on obese and non-obese children. Weight, height, waist circumference and blood pressure were measured for all participants. Lipid profile, serum ferritin and glucose were determined and analysed through absorbance. The Spearman correlation was performed for the quantitative variables and a regression analysis was used to determine the interaction between variables. Eighty-nine children were included, with a median age of 9.0 years. Results: When comparing serum ferritin levels in normal weight group, vs. the overweight and obesity group, values were significantly higher in the latter. Serum ferritin correlated positively with BMI (Rho .282, p <0.01), waist circumference (Rho .372, p < 0.01), diastolic blood pressure (Rho .244, p < 0.05), body fat percentage (Rho .375, p < 0.001), insulin (Rho .254, p <.05) and sex (Rho .224, p <.05); and negatively with high-density lipoprotein cholesterol (Rho. -221, p< 0.05). When analysing the significant variables in a multivariate regression model, sex, body mass index, waist circumference, and body fat percentage remained statistically significant (p <0.01). Conclusion: We observed associations between serum ferritin and obesity in Mexican school aged children. Determinar la asociación entre los niveles de ferritina sérica, el perfil de lípidos y la adiposidad en niños en edad escolar. Metodología: Se realizó un estudio transversal en niños obesos y no obesos. Se midieron el peso, la altura, la circunferencia de cintura y la presión arterial en todos los participantes. El perfil lipídico, la ferritina sérica y la glucosa se determinaron y analizaron mediante absorbancia. Se realizó correlación de Spearman para las variables cuantitativas y se utilizó un análisis de regresión para determinar la interacción entre las variables. Se incluyeron ochenta y nueve niños, con una edad media de 9,0 años. Resultados: Al comparar los niveles de ferritina sérica en el grupo de peso normal, frente al grupo de sobrepeso y obesidad, los valores fueron significativamente más altos en este último. La ferritina sérica se correlacionó positivamente con el IMC (Rho 0,282, p <0,01), la circunferencia de cintura (Rho 0,372, p <0,01), la presión arterial diastólica (Rho 0,244, p <0,05), el porcentaje de grasa corporal (Rho 0,375, p < 0,001), insulina (Rho 0,254, p <0,05) y sexo (Rho 0,224, p < 0,05); y negativamente con colesterol de lipoproteínas de alta densidad (Rho -0,221, p <0,05). Al analizar las variables significativas en un modelo de regresión multivariante, el sexo, el índice de masa corporal, la circunferencia de cintura y el porcentaje de grasa corporal se mantuvieron estadísticamente significativos (p <0,01). Conclusión: Observamos asociaciones entre la ferritina sérica y la obesidad en niños mexicanos en edad escolar.

scholarly journals The combined effect of green tea and α-glucosyl hesperidin in preventing obesity: a randomized placebo-controlled clinical trial

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ren Yoshitomi ◽  
Mao Yamamoto ◽  
Motofumi Kumazoe ◽  
Yoshinori Fujimura ◽  
Madoka Yonekura ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Weight Gain ◽  
Green Tea ◽  
Body Fat ◽  
Controlled Clinical Trial ◽  
Body Fat Percentage ◽  
Fat Percentage ◽  
Reduced Body ◽  
Blood Biochemical ◽  
Double Blinded

AbstractGreen tea, a widely consumed beverage in Asia, contains green tea catechins effective against obesity, especially epigallocatechin-3-O-gallate (EGCG), but must be consumed in an impractically huge amount daily to elicit its biological effect. Meanwhile, citrus polyphenols have various physiological effects that could enhance EGCG functionality. Here we investigated the antiobesity effect of a combination of EGCG and α-glucosyl hesperidin, a citrus polyphenol, at doses that have not been previously reported to exert antiobesity effects by themselves in any clinical trial. In a randomized, placebo-controlled, double-blinded, and parallel-group-designed clinical trial, 60 healthy Japanese males and females aged 30–75 years consumed green tea combined with α-glucosyl hesperidin (GT-gH), which contained 178 mg α-glucosyl hesperidin and 146 mg EGCG, for 12 weeks. Physical, hematological, blood biochemical, and urine examinations showed that GT-gH is safe to use. At week 12, GT-gH prevented weight gain and reduced body mass index (BMI) compared with the placebo. Especially in those aged < 50 years, triglyceride and body fat percentage decreased at week 6, visceral fat level and body fat percentage decreased at week 12; body weight, BMI, and blood LDL/HDL ratio also decreased. In conclusion, taking GT-gH prevents weight gain, and the antiobesity effect of GT-gH was more pronounced in people aged < 50 years.

scholarly journals A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

PLoS Genetics ◽  
2020 ◽  
Vol 16 (11) ◽  
pp. e1008802
Author(s):  
Catherine Tcheandjieu ◽  
Matthew Aguirre ◽  
Stefan Gustafsson ◽  
Priyanka Saha ◽  
Praneetha Potiny ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Genetic Testing ◽  
General Population ◽  
Association Study ◽  
Target Genes ◽  
Rare Variants ◽  
Body Height ◽  
Genetic Syndrome ◽  
Human Phenotype ◽  
Increased Risk

The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a single phenotype of a complex syndrome may not meet criteria for clinical diagnosis or genetic testing. Here, we present a phenome-wide association study (PheWAS) approach to systematically explore the phenotypic expressivity of common and rare alleles in genes associated with four well-described syndromic diseases (Alagille (AS), Marfan (MS), DiGeorge (DS), and Noonan (NS) syndromes) in the general population. Using human phenotype ontology (HPO) terms, we systematically mapped 60 phenotypes related to AS, MS, DS and NS in 337,198 unrelated white British from the UK Biobank (UKBB) based on their hospital admission records, self-administrated questionnaires, and physiological measurements. We performed logistic regression adjusting for age, sex, and the first 5 genetic principal components, for each phenotype and each variant in the target genes (JAG1, NOTCH2 FBN1, PTPN1 and RAS-opathy genes, and genes in the 22q11.2 locus) and performed a gene burden test. Overall, we observed multiple phenotype-genotype correlations, such as the association between variation in JAG1, FBN1, PTPN11 and SOS2 with diastolic and systolic blood pressure; and pleiotropy among multiple variants in syndromic genes. For example, rs11066309 in PTPN11 was significantly associated with a lower body mass index, an increased risk of hypothyroidism and a smaller size for gestational age, all in concordance with NS-related phenotypes. Similarly, rs589668 in FBN1 was associated with an increase in body height and blood pressure, and a reduced body fat percentage as observed in Marfan syndrome. Our findings suggest that the spectrum of associations of common and rare variants in genes involved in syndromic diseases can be extended to individual phenotypes within the general population.

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