Effects of genetics and altitude on lung function

Talaminos-Barroso, Alejandro; Roa-Romero, Laura M.; Ortega-Ruiz, Francisco; Márquez-Martín, Eduardo; Reina‐Tosina, Javier

doi:10.1111/crj.13300

Cited by 6 publications

(3 citation statements)

References 110 publications

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“…This such a exposure might triggered several mechanisms that have been associated with greater lung capacities. For instance, having greater FVC is probably linked to anatomical changes that have evolve from centuries of adaptation [ 6 , 33 – 35 ]. Some of these evolutionary anatomical adaptations (wider and deeper chest) confer these populations with larger lungs, which result in a greater capacity to accommodate more air.…”

Section: Discussionmentioning

confidence: 99%

A comparative analysis of lung function and spirometry parameters in genotype-controlled natives living at low and high altitude

et al. 2022

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Background The reference values for lung function are associated to anatomical and lung morphology parameters, but anthropometry it is not the only influencing factor: altitude and genetics are two important agents affecting respiratory physiology. Altitude and its influence on respiratory function has been studied independently of genetics, considering early and long-term acclimatization. Objective The objective of this study is to evaluate lung function through a spirometry study in autochthonous Kichwas permanently living at low and high-altitude. Methodology A cross-sectional study of spirometry differences between genetically matched lowland Kichwas from Limoncocha (230 m) at Amazonian basin and high-altitude Kichwas from Oyacachi (3180 m) in Andean highlands. The sample size estimates permitted to recruited 118 patients (40 men and 78 women) from Limoncocha and 95 (39 men and 56 women) from Oyacachi. Chi-square method was used to analyze association or independence of categorical variables, while Student’s t test was applied to comparison of means within quantitative variables. ANOVA, or in the case that the variables didn’t meet the criteria of normality, Kruskal Wallis test were used to compare more than two groups. Results The FVC and the FEV1 were significantly greater among highlanders than lowlanders (p value < 0.001), with a proportion difference of 15.2% for men and 8.5% for women. The FEV1/FVC was significantly higher among lowlanders than highlanders for men and women. A restrictive pattern was found in 12.9% of the participants. Conclusion Residents of Oyacachi had greater FVC and FEV1 than their peers from Limoncocha, a finding physiologically plausible according to published literature. Lung size and greater ventilatory capacities could be an adaptive mechanism developed by the highlander in response to hypoxia. Our results support the fact that this difference in FVC and FEV1 is a compensatory mechanism towards lower barometric and alveolar partial pressure of oxygen pressure.

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Section: Discussionmentioning

confidence: 99%

A comparative analysis of lung function and spirometry parameters in genotype-controlled natives living at low and high altitude

et al. 2022

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“…Such conjectures were verified to some extent in our LDSC results. Several observational studies pointed out that COPD was diagnosed when lung function parameters began to decrease, was characterized by airway limitation and was related to a higher risk of VTE events [ 12 , 50 , 51 ]. Additionally, a prospective population-based study indicated that airway obstruction can increase the risk of VTE events (provoked or unprovoked), and decreased FEV1 and FEV1/FVC, indices of obstructive ventilation dysfunction, were related to a higher risk of VTE events, especially PE [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Genetic association and causal inference between lung function and venous thromboembolism

Zhang

et al. 2023

Respir Res

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Background Previous studies have indicated that lower lung function is related to a higher risk of venous thromboembolism (VTE). However, causal inferences may be affected by confounders, coheritability or reverse causality. We aimed to explore the causal association between lung function and VTE. Methods Summary data from public genome-wide association studies (GWAS) for lung function and VTE were obtained from published meta-analysis studies and the FinnGen consortium, respectively. Independent genetic variables significantly related to exposure were filtered as proxy instruments. We adopted linkage disequilibrium score regression (LDSC) and two-sample Mendelian randomization (MR) analyses to infer the genetic backgrounds and causal associations between different lung functions and VTE events. Results LDSC showed a genetic correlation between forced expiratory volume in one second (FEV1) and deep vein thrombosis (DVT) (rg = − 0.189, P = 0.005). In univariate MR (UVMR), there was suggestive evidence for causal associations of genetically predicted force vital capacity (FVC) with DVT (odds ratio (OR) 0.774; 95% confidence interval (CI) 0.641–0.934) via forwards analysis and genetically predicted pulmonary embolism (PE) with FVC (OR 0.989; 95% CI 0.979–0.999) via reverse analysis. Multivariate MR (MVMR) analyses of lung function-specific SNPs suggested no significant direct effects of lung function on VTE, and vice versa. Of note is the borderline causal effect of PE on FEV1 (OR 0.921; 95% CI 0.848–1.000). Conclusions Our findings identified a coheritability of FEV1 (significant) and FVC (suggestive) with DVT. There was no convincing causal relationship between lung function and the risk of VTE events. The borderline causal effect of PE on FEV1 and the significant genetic correlation of FEV1 with DVT may have clinical implications for improving the quality of existing prevention and intervention strategies.

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“…A literatura é carente de artigos que descrevem as modificações de função pulmonar em populações semelhantes à analisada neste estudo. Existem relatos anteriores em populações que residem em ambientes de altitude elevada, considerando os efeitos temporários ou ainda a aclimatação a longo prazo (TALAMINOS-BARROSO et al, 2020). A adaptação vai ao encontro das mudanças nos mecanismos de controle respiratório (WEITZ; GARRUTO; CHIN, 2016), adaptações genéticas que são transferidas por gerações, como, desenvolvimento de maiores volumes pulmonares; alterações nos gradientes arterio-alveolares de oxigênio; e aumento do fluxo sanguíneo da artéria uterina durante a gravidez, sugerindo, portanto, uma melhor eficiência no transporte e consumo de oxigênio (TALAMINOS-BARROSO et al, 2020).…”

Section: Discussionunclassified

Função pulmonar em pilotos de combate

Soares¹,

Melo²,

Sá³

2023

cmm

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The effects related to work at high altitudes and acceleration force overload can generate physiological compensation mechanisms and eventual short-, medium- and long-term changes in lung function. Therefore, this study aimed to describe the chronic changes in lung function in combat pilots of the Brazilian Air Force. The sample consisted of 19 combat pilots and 20 controls. For pulmonary function measurements, we observed an increase in the mean values of Forced Vital Capacity (FVC) and Forced Expiratory Volume in the First Second (FEV1), a decrease in lung volume, an increase in resistance and work of breathing, in the exposed group compared to the control, with significant modifications to Residual Volume (RV) by Total Lung Capacity (TLC) in liters (L) and percentage (%). Similar behavior when evaluated according to flight hours, with an increase proportional to the increase in exposure time. Discrete changes, such as those observed in this research, may reflect adaptations of the respiratory system, bringing a complementary view to changes in chronic conditions.

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Effects of genetics and altitude on lung function

Cited by 6 publications

References 110 publications

A comparative analysis of lung function and spirometry parameters in genotype-controlled natives living at low and high altitude

A comparative analysis of lung function and spirometry parameters in genotype-controlled natives living at low and high altitude

Genetic association and causal inference between lung function and venous thromboembolism

Função pulmonar em pilotos de combate

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