Heritability and Sex-Specific Genetic Effects of Self-Reported Physical Activity in a Brazilian Highly Admixed Population

Leite, Jean Michel Rocha Sampaio; Soler, Júlia Maria Pavan; Horimoto, Andréa Roseli Vançan Russo; Alvim, Rafael de Oliveira; Pereira, Alexandre da Costa

doi:10.1159/000506007

Cited by 8 publications

(5 citation statements)

References 28 publications

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“…The 14 studies followed a cross-sectional design. Most of them were from Brazil (10) 16 – 18 , 20 – 24 , 26 , 28 while the rest were from Argentina 25 , Chile 29 , Colombia 27 and Venezuela 19 . The age of the study population was ≥18 years old, except in one study which was ≥15 years 29 .…”

Section: Resultsmentioning

confidence: 99%

Neck circumference in Latin America and the Caribbean: A systematic review and meta-analysis

López¹,

Landeo²,

Mercado³

et al. 2021

Wellcome Open Res

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Background: High neck circumference (NC) is associated with high burden diseases in Latin American and the Caribbean (LAC). NC complements established anthropometric measurements for early identification of cardio-metabolic and other illnesses. However, evidence about NC has not been systematically studied in LAC. We aimed to estimate the mean NC and the prevalence of high NC in LAC. Methods: We conducted a systematic review in MEDLINE, Embase, Global Health and LILACS. Search results were screened and studied by two reviewers independently. To assess risk of bias of individual studies, we used the Hoy et al. scale and the Newcastle-Ottawa scale. We conducted a random-effects meta-analysis. Results: In total, 182 abstracts were screened, 96 manuscripts were reviewed and 85 studies (n= 51,978) were summarized. From all the summarized studies, 14 were conducted in a sample of the general population, 23 were conducted with captive populations and 49 studies were conducted with patients. The pooled mean NC in the general population was 35.69 cm (95% IC: 34.85cm-36.53cm; I²: 99.6%). In our patient populations, the pooled mean NC in the obesity group was 42.56cm (95% CI 41.70cm-43.42cm; I²: 92.40%). Across all studied populations, there were several definitions of high NC; thus, prevalence estimates were not comparable. The prevalence of high NC ranged between 37.00% and 57.69% in the general population. The methodology to measure NC was not consistently reported. Conclusions: Mean NC in LAC appears to be in the range of estimates from other world regions. Inconsistent methods and definitions hamper cross-country comparisons and time trend analyses. There is a need for consistent and comparable definitions of NC so that it can be incorporated as a standard anthropometric indicator in surveys and epidemiological studies.

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Section: Resultsmentioning

confidence: 99%

Neck circumference in Latin America and the Caribbean: A systematic review and meta-analysis

López¹,

Landeo²,

Mercado³

et al. 2021

Wellcome Open Res

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“…30 Other partly inheritable factors include BMI and body fat distribution, 31 and level of physical activity and sedentary behaviour. 23 Genetic heritability has also been shown for anxiety and panic, including increased anxiety response to hypercapnia in a twin study. 32 Mood including anxiety and depression is strongly related to breathlessness perception, and clustering of breathlessness across generations might be influenced by inheritable personality traits.…”

Section: Discussionmentioning

confidence: 94%

“… 30 Other partly inheritable factors include BMI and body fat distribution, 31 and level of physical activity and sedentary behaviour. 23 …”

Section: Discussionmentioning

confidence: 99%

“…No study has evaluated whether parents with breathlessness are more likely to have offspring with breathlessness or the potential factors underpinning any such association. Clustering of breathlessness across the generations is conceivable, as several determinants of breathlessness are known to be at least partly hereditary, including level of lung function, 20 21 physical activity, 23 obesity and body fat composition, and asthma. [17][18][19] The primary aim of this study was to evaluate whether parents' breathlessness was a risk factor for offspring breathlessness, when accounting known risk factors for breathlessness in both generations.…”

Section: Introductionmentioning

confidence: 99%

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Breathlessness across generations: results from the RHINESSA generation study

Ekström

Johannessen

Abramson

et al. 2021

Thorax

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BackgroundBreathlessness is a major cause of suffering and disability globally. The symptom relates to multiple factors including asthma and lung function, which are influenced by hereditary factors. No study has evaluated potential inheritance of breathlessness itself across generations.MethodsWe analysed the association between breathlessness in parents and their offspring in the Respiratory Health in Northern Europe, Spain and Australia generation study. Data on parents and offspring aged ≥18 years across 10 study centres in seven countries included demographics, self-reported breathlessness, asthma, depression, smoking, physical activity level, measured Body Mass Index and spirometry. Data were analysed using multivariable logistic regression accounting for clustering within centres and between siblings.ResultsA total of 1720 parents (mean age at assessment 36 years, 55% mothers) and 2476 offspring (mean 30 years, 55% daughters) were included. Breathlessness was reported by 809 (32.7%) parents and 363 (14.7%) offspring. Factors independently associated with breathlessness in parents and offspring included obesity, current smoking, asthma, depression, lower lung function and female sex. After adjusting for potential confounders, parents with breathlessness were more likely to have offspring with breathlessness, adjusted OR 1.8 (95% CI 1.1 to 2.9). The association was not modified by sex of the parent or offspring.ConclusionParents with breathlessness were more likely to have children who developed breathlessness, after adjusting for asthma, lung function, obesity, smoking, depression and female sex in both generations. The hereditary components of breathlessness need to be further explored.

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“…It is well-known that the effects of a genetic variant on a trait can be different for individuals with different environments, such as age [1], sex [2][3][4][5], lifestyle [6] and other exposures [7]. The genetic effects can also depend on other variants, either from the same genome [8,9] or the genome of another species (such as pathogen and host [10], mother and offspring [11]).…”

Section: Introductionmentioning

confidence: 99%

Overcoming the “feast or famine” effect: improved interaction testing in genome-wide association studies

Zhou,

McPeek

2024

Preprint

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In genetic association analysis of complex traits, detection of interaction (either GxG or GxE) can help to elucidate the genetic architecture and biological mechanisms underlying the trait. Detection of interaction in a genome-wide association study (GWAS) can be methodologically challenging for various reasons, including a high burden of multiple comparisons when testing for epistasis between all possible pairs of a set of genomewide variants, as well as heteroscedasticity effects occurring in the presence of GxG or GxE interaction. In this paper, we address the problem of an even more striking phenomenon that we call the "feast or famine" effect that occurs when testing interaction in a genomewide context. As we verify, even in a simplified setting in which there is no interaction at all (and so no heteroscedasticity), in a GWAS to detect GxG or GxE interaction with a fixed genetic variant or environmental factor, the distribution of the genome-wide p-values under the null hypothesis is not the i.i.d. uniform one that is commonly assumed. Using standard methods, even if all SNPs are independent, some GWASs will have systematically underinflated p-values ("feast"), and others will have systematically overinflated p-values ("famine"), which can lead to false detection of interaction, reduced power, inconsistent results across studies, and failure to replicate true signal. This startling phenomenon is specific to detection of interaction in a GWAS, and it may partly explain why such detection has so far proved challenging and difficult to replicate. We show theoretically that the key cause of this phenomenon is which variables are conditioned on in the analysis, and this suggests an approach to correct the problem by changing the way the conditioning is done. Using this insight, we have developed the TINGA method to adjust the interaction test statistics to make their p-values closer to uniform under the null hypothesis. In simulations we show that TINGA both controls type 1 error and improves power. TINGA allows for covariates and population structure through use of a linear mixed model and accounts for heterscedasticity. We apply TINGA to detection of epistasis in a study of flowering time in Arabidopsis thaliana.

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Heritability and Sex-Specific Genetic Effects of Self-Reported Physical Activity in a Brazilian Highly Admixed Population

Cited by 8 publications

References 28 publications

Neck circumference in Latin America and the Caribbean: A systematic review and meta-analysis

Neck circumference in Latin America and the Caribbean: A systematic review and meta-analysis

Breathlessness across generations: results from the RHINESSA generation study

Overcoming the “feast or famine” effect: improved interaction testing in genome-wide association studies

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