scholarly journals Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

2017 ◽  
Vol 2017 ◽  
pp. 1-10 ◽  
Author(s):  
Diana Lizzete Antúnez-Ortiz ◽  
Eugenia Flores-Alfaro ◽  
Ana Isabel Burguete-García ◽  
Amélie Bonnefond ◽  
Jesús Peralta-Romero ◽  
...  

Introduction. Increase in body weight is a gradual process that usually begins in childhood and in adolescence as a result of multiple interactions among environmental and genetic factors. This study aimed to analyze the relationship between copy number variants (CNVs) in five genes and four intergenic regions with obesity in Mexican children.Methods. We studied 1423 children aged 6–12 years. Anthropometric measurements and blood levels of biochemical parameters were obtained. Identification of CNVs was performed by real-time PCR. The effect of CNVs on obesity or body composition was assessed using regression models adjusted for age, gender, and family history of obesity.Results. Gains in copy numbers ofLEPRandNEGR1were associated with decreased body mass index (BMI), waist circumference (WC), and risk of abdominal obesity, whereas gain inARHGEF4andCPXCR1and the intergenic regions 12q15c, 15q21.1a, and 22q11.21d and losses inINSwere associated with increased BMI and WC.Conclusion. Our results indicate a possible contribution of CNVs inLEPR,NEGR1,ARHGEF4, andCPXCR1and the intergenic regions 12q15c, 15q21.1a, and 22q11.21d to the development of obesity, particularly abdominal obesity in Mexican children.

Gene ◽  
2013 ◽  
Vol 516 (2) ◽  
pp. 198-203 ◽  
Author(s):  
Chen Sun ◽  
Min Cao ◽  
Juan Shi ◽  
Lijuan Li ◽  
Lin Miao ◽  
...  

2011 ◽  
Vol 9 (4) ◽  
pp. 152-160 ◽  
Author(s):  
Sang-Hoon Moon ◽  
Young-Jin Kim ◽  
Yun-Kyoung Kim ◽  
Dong-Joon Kim ◽  
Ji-Young Lee ◽  
...  

2012 ◽  
Vol 18 (2) ◽  
pp. 60-62
Author(s):  
MC Gonsales ◽  
P Preto ◽  
MA Montenegro ◽  
MM Guerreiro ◽  
I Lopes-Cendes

OBJECTIVES: The purpose of this study was to advance the knowledge on the clinical use of SCN1A testing for severe epilepsies within the spectrum of generalized epilepsy with febrile seizures plus by performing genetic screening in patients with Dravet and Doose syndromes and establishing genotype-phenotype correlations. METHODS: Mutation screening in SCN1A was performed in 15 patients with Dravet syndrome and 13 with Doose syndrome. Eight prediction algorithms were used to analyze the impact of the mutations in putative protein function. Furthermore, all SCN1A mutations previously published were compiled and analyzed. In addition, Multiplex Ligation-Dependent Probe Amplification (MLPA) technique was used to detect possible copy number variations within SCN1A. RESULTS: Twelve mutations were identified in patients with Dravet syndrome, while patients with Doose syndrome showed no mutations. Our results show that the most common type of mutation found is missense, and that they are mostly located in the pore region and the N- and C-terminal of the protein. No copy number variants in SCN1A were identified in our cohort. CONCLUSIONS: SCN1A testing is clinically useful for patients with Dravet syndrome, but not for those with Doose syndrome, since both syndromes do not seem to share the same genetic basis. Our results indicate that indeed missense mutations can cause severe phenotypes depending on its location and the type of amino-acid substitution. Moreover, our strategy for predicting deleterious effect of mutations using multiple computation algorithms was efficient for most of the mutations identified.


2017 ◽  
Vol 27 (1) ◽  
pp. 56 ◽  
Author(s):  
Willian R. Tebar ◽  
Luiz Carlos M. Vanderlei ◽  
Catarina C. Scarabotollo ◽  
Edner F. Zanuto ◽  
Bruna T. C. Saraiva ◽  
...  

Objectives: The aim of this study was to determine the prevalence of abdominal obesity and its associated factors among adolescents, independent of confounders. Method: A sample of 14–17-year-old individuals (n=1.231), who were students from Londrina/PR-Brazil public schools, was studied. A questionnaire about physical activity, sedentary behaviour and socioeconomic conditions was applied. Anthropometry was composed of body weight (kg), height (m), body mass index (BMI=kg/m²) and waist circumference (cm). The association of abdominal obesity and independent variables was assessed using the chi-square test and the magnitude of associations was verified using Binary Logistic Regression in an unadjusted model and adjusted for confounders (gender, age, socioeconomic status, physical activity and sedentary behaviour). The confidence interval and statistical significance were set at 95% and 5%, respectively, using SPSS v15.0. Results: The abdominal obesity prevalence was 17.5% (CI = 15.4%–19.6%), and was higher in boys than in girls. Adolescents with abdominal obesity had higher values of body weight, height, body mass index and sedentary behaviour compared to eutrophic individuals. Being male increased the risk of abdominal obesity by 36% in adolescents. This risk was two times higher in those with high levels of sedentary behaviour. Conclusion: Abdominal obesity was significantly associated with gender and high levels of sedentary behaviour, regardless of confounding factors. Lifestyle habits are important modifiable risk factors that can effectively contribute to the reduction of obesity from an early age.


PLoS ONE ◽  
2018 ◽  
Vol 13 (4) ◽  
pp. e0194668 ◽  
Author(s):  
Kateryna Shebanits ◽  
Johanna C. Andersson-Assarsson ◽  
Ingrid Larsson ◽  
Lena M. S. Carlsson ◽  
Lars Feuk ◽  
...  

2003 ◽  
Vol 73 (3) ◽  
pp. 221-225 ◽  
Author(s):  
Trichopoulou ◽  
Benetou ◽  
Lagiou ◽  
Gnardellis ◽  
Stacewicz-Sapunzakis ◽  
...  

In the context of the Greek segment of the European Prospective Investigation into Cancer and Nutrition (EPIC), we conducted a cross-sectional study to examine the effects of the intake of plant foods central in the traditional Mediterranean diet on plasma levels of alpha-carotene, beta-carotene, lycopene, beta-cryptoxanthin, and lutein-zeaxanthin. Study subjects were a random sample of 45 men and 68 women, aged 30–82 years, from the Greek EPIC cohort of 27953 volunteers. Linear regression models were fitted, with the carotenoid blood levels as dependent variables. Independent variables were selected food items, as well as body mass index, controlling for energy intake and a set of demographic factors. Body mass index was inversely associated with plasma levels of the studied carotenoids. The association was highly significant for alpha-carotene and beta-carotene, significant for lutein-zeaxanthin, and borderline significant (p ~ 0.07) for lycopene. Tomato intake was significantly positively associated with plasma lycopene, and beta-carotene. Other fruity vegetables and non-fruity vegetables were significantly positively associated, the former with a-carotene and the latter with both alpha- and beta-carotene plasma levels. Fruits showed a highly significant positive association with plasma beta-cryptoxanthin, as well as with beta-carotene. No association was found between the intake of olive oil or other added lipids and plasma carotenoids. We conclude that among the studied components of the Mediterranean diet, fruits and vegetables tend to increase levels of some carotenoids, but olive oil has no apparent effect.


2019 ◽  
Vol 37 (11) ◽  
pp. 2393-2400 ◽  
Author(s):  
Jin Bong Choi ◽  
Jung Ho Kim ◽  
Sung-Hoo Hong ◽  
Kyung-Do Han ◽  
U-Syn Ha

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
David Drozek ◽  
Alexandria DeFabio ◽  
Randi Amstadt ◽  
Godwin Y. Dogbey

The initial benefits of lifestyle modification programs such as reduction in chronic and cardiovascular diseases (CVD) risk factors have been well documented. However, such positive effects may deteriorate over time following relapse into inactivity. Timely detection of weight regain leading to the deterioration of the accrued benefits could trigger early resumption of intensive lifestyle intervention. To date, no known cost-effective, noninvasive approach for monitoring long-term outcomes has yet been established. The purpose of this study was to determine if body mass index (BMI) change predicted changes in other CVD biometric markers during an intensive lifestyle modification program. This study was an observational, retrospective review of records of participants from the Complete Health Improvement Program (CHIP). Biomarker changes of participants in this community-based Intensive Therapeutic Lifestyle Modification Program (ITLMP) offered in Athens, Ohio, a rural Appalachian college town, between April 2011 and June 2017 were reviewed retrospectively. BMI, heart rate (Pulse), systolic blood pressure (SBP), diastolic blood pressure (DBP), and fasting blood levels of total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglycerides (TG), and glucose (FBS) were monitored before and after program completion. Data were analyzed using a multivariate general linear model. The sample analyzed consisted of 620 participants (mean age of 52.3±13.0 years, 74.5% female). Controlling for age and gender, BMI change significantly predicted 5 out of the 8 biomarker changes measured [Wilk’s λ = 0.939, F(8,526) = 4.29, p <.0001]. Specifically, a 1-point BMI decrease was associated with 4.4 units decrease in TC, 3.2 units in LDL, 5.3 units in TG, 2 units in SBP, and 1 unit in DBP (all p values < .05). These results suggest that change in BMI may be a useful predictor of change in other CVD biomarkers’ outcomes during and after an ITLMP participation. Tracking BMI, therefore, could serve as a proxy measure for identifying regressing biomarker changes following participation in an ITLMP leading to a timelier reassessment and intervention. Future studies evaluating the value of BMI as a surrogate for highlighting overall cardiovascular health are warranted.


2017 ◽  
Vol 12 (2) ◽  
pp. 341-348 ◽  
Author(s):  
Barbara Enderle ◽  
Isabella Moser ◽  
Cecil Kannan ◽  
Karl Otfried Schwab ◽  
Gerald Urban

Background: Continuously measured glucose and lactate levels in interstitial fluid (ISF) may markedly differ from their respective blood levels. Methods: Combining microdialysis with a bioanalytical microsystem, the interstitial glucose and lactate concentrations of eight male volunteers with different body mass index (BMI) were monitored during a 2-fold glucose tolerance test over the period of three hours. Results: Significant correlations were found between abdominally measured sensor results and reference measurements ( R2 = .967 for glucose and R2 = .936 for lactate, P < .05). The physiological delay of the abdominally observed glucose appearance in the ISF correlated positively with the BMI ( R2 = .787, P < .05). The relative in vivo recovery of glucose and lactate was inversely proportional to the BMI of the volunteers ( R2 = .540 for glucose, R2 = .609 for lactate, P < .05). One subject with a BMI of > 34 kg/m2 showed abdominally as well as the antebrachially significantly reduced tissue glucose values compared to blood glucose values ( P < .001). Conclusions: A very good correlation between abdominally measured sensor results and the results of the reference method verified the reliability of the BioMEMS. The abdominally measured glucose level in ISF decreased significantly with increasing BMI. Therefore, an in vivo calibration of glucose levels in ISF with blood levels seems to be necessary especially in markedly obese subjects.


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