scholarly journals Genetic and Environmental Influences on Pulmonary Function and Muscle Strength: The Chinese Twin Study of Aging

2017 ◽  
Vol 20 (1) ◽  
pp. 53-59 ◽  
Author(s):  
Xiaocao Tian ◽  
Chunsheng Xu ◽  
Yili Wu ◽  
Jianping Sun ◽  
Haiping Duan ◽  
...  

Genetic and environmental influences on predictors of decline in daily functioning, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), handgrip, and five-times-sit-to-stand test (FTSST), have not been addressed in the aging Chinese population. We performed classical twin modeling on FEV1, FVC, handgrip, and FTSST in 379 twin pairs (240 MZ and 139 DZ) with median age of 50 years (40–80 years). Data were analyzed by fitting univariate and bivariate twin models to estimate the genetic and environmental influences on these measures of physical function. Heritability was moderate for FEV1, handgrip, and FTSST (55–60%) but insignificant for FVC. Only FVC showed moderate control, with shared environmental factors accounting for about 50% of the total variance. In contrast, all measures of pulmonary function and muscle strength showed modest influences from the unique environment (40–50%). Bivariate analysis showed highly positive genetic correlations between FEV1 and FVC (rG = 1.00), and moderately negative genetic correlations between FTSST and FEV1 (rG = −0.33) and FVC (rG = −0.42). FEV1 and FVC, as well as FEV1 and handgrip, displayed high common environmental correlations (rC = 1.00), and there were moderate correlations between FVC and handgrip (rC = 0.44). FEV1 and FVC showed high unique environmental correlations (rE = 0.76) and low correlations between handgrip and FEV1 (rE = 0.17), FVC (rE = 0.14), and FTSST (rE = −0.13) with positive or negative direction. We conclude that genetic factors contribute significantly to the individual differences in common indicators of daily functioning (FEV1, handgrip, and FTSST). FEV1 and FVC were genetically and environmentally correlated. Pulmonary function and FTSST may share similar sets of genes but in the negative direction. Pulmonary function and muscle strength may have a shared environmental background.

1987 ◽  
Vol 36 (2) ◽  
pp. 171-180 ◽  
Author(s):  
S. Fischbein ◽  
N.L. Pedersen

AbstractA multivariate analysis of genetic and environmental influences on longitudinal height and weight data from a Swedish twin sample is presented. For height in boys, genetic correlations of all ages with the first time point decrease during puberty and increase afterwards. A more linear pattern is evident for the girls. For weight in boys, genetic and environmental correlations are similar to the ones for height. Genetic correlations for girls are stable with age, while environmental correlations peak at 13.5 years and decrease drastically thereafter. The patterns for height and weight in boys suggest that a new set of genes may be turned on during puberty and turned off again afterwards. The pattern found for weight in girls indicates that a simple additive genetic model is not appropriate. It is necessary, however, to apply the model to actual data from several time points to recognize the inadequacy of the model.


2018 ◽  
Vol 4 (1) ◽  
pp. 00055-2017 ◽  
Author(s):  
Barbara Cristina Brocki ◽  
Elisabeth Westerdahl ◽  
Daniel Langer ◽  
Domingos S.R. Souza ◽  
Jan Jesper Andreasen

Respiratory deficits are common following curative intent lung cancer surgery and may reduce the patient's ability to be physically active. We evaluated the influence of surgery on pulmonary function, respiratory muscle strength and physical performance after lung resection.Pulmonary function, respiratory muscle strength (maximal inspiratory/expiratory pressure) and 6-min walk test (6MWT) were assessed pre-operatively, 2 weeks post-operatively and 6 months post-operatively in 80 patients (age 68±9 years).Video-assisted thoracoscopic surgery was performed in 58% of cases. Two weeks post-operatively, we found a significant decline in pulmonary function (forced vital capacity −0.6±0.6 L and forced expiratory volume in 1 s −0.43±0.4 L; both p<0.0001), 6MWT (−37.6±74.8 m; p<0.0001) and oxygenation (−2.9±4.7 units; p<0.001), while maximal inspiratory and maximal expiratory pressure were unaffected. At 6 months post-operatively, pulmonary function and oxygenation remained significantly decreased (p<0.001), whereas 6MWT was recovered.We conclude that lung resection has a significant short- and long-term impact on pulmonary function and oxygenation, but not on respiratory muscle strength. Future research should focus on mechanisms negatively influencing post-operative pulmonary function other than impaired respiratory muscle strength.


1989 ◽  
Vol 66 (2) ◽  
pp. 943-948 ◽  
Author(s):  
H. I. Chen ◽  
C. S. Kuo

To investigate the effects of gender and age on respiratory muscle function, 160 healthy volunteers (80 males, 80 females) were divided into four age groups. Twenty-eight of the male subjects were smokers. After the subjects were familiarized with the experimental procedure, respiratory muscle strength, inspiratory muscle endurance, and spirometric function, including forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), FEV1/FVC, tidal volume, breathing rate, and duty cycle, were measured. The respiratory muscle strength was indicated by the maximal static inspiratory and expiratory pressures (PImmax and PEmmax). Inspiratory muscle endurance was determined by the time the subject was able to sustain breathing against an inspiratory pressure load on a modified Nickerson-Keens device. The results showed that 1) except for inspiratory muscle endurance and FEV1/FVC, men had greater respiratory muscle and pulmonary functions than women, 2) respiratory muscle function and pulmonary function decreased with age, 3) smoking tended to lower duty cycle and FEV1/FVC and to enhance PE,mmax, and 4) inspiratory muscle endurance was greater in men who were physically active than in those who were sedentary. Therefore we conclude that there are sexual and age differences in respiratory muscle strength and pulmonary function and that smoking or physical activity may affect respiratory muscle function.


2021 ◽  
pp. 00375-2021
Author(s):  
Xavier Farré ◽  
Roderic Espín ◽  
Alexandra Baiges ◽  
Eline Blommaert ◽  
Wonji Kim ◽  
...  

IntroductionLymphangioleiomyomatosis (LAM) is a rare low-grade metastasising disease characterised by cystic lung destruction. The genetic basis of LAM remains incompletely determined, and the disease cell-of-origin is uncertain. We analysed the possibility of a shared genetic basis between LAM and cancer, and LAM and pulmonary function.MethodsThe results of genome-wide association studies (GWASs) of LAM, 17 cancer types, and spirometry measures (forced expiratory volume in 1-second (FEV1), forced vital capacity (FVC), FEV1/FVC ratio, and peak expiratory flow (PEF)) were analysed for genetic correlations, shared genetic variants, and causality. Genomic and transcriptomic data were examined, and immunodetection assays were performed to evaluate pleiotropic genes.ResultsThere were no significant overall genetic correlations between LAM and cancer, but LAM correlated negatively with FVC and PEF, and a trend in the same direction was observed for FEV1. Twenty-two shared genetic variants were uncovered between LAM and pulmonary function, while seven shared variants were identified between LAM and cancer. The LAM-pulmonary function shared genetics identified four pleiotropic genes previously recognised in LAM single-cell transcriptomes: ADAM12, BNC2, NR2F2, and SP5. We had previously associated NR2F2 variants with LAM, and we identified its functional partner NR3C1 as another pleotropic factor. NR3C1 expression was confirmed in LAM lung lesions. Another candidate pleiotropic factor, CNTN2, was found more abundant in plasma of LAM patients than that of healthy women.ConclusionsThis study suggests the existence of a common genetic aetiology between LAM and pulmonary function.


2015 ◽  
Vol 18 (6) ◽  
pp. 746-754 ◽  
Author(s):  
Michel G. Nivard ◽  
Christel M. Middeldorp ◽  
Conor V. Dolan ◽  
Dorret I. Boomsma

Longitudinal studies of neuroticism have shown that, on average, neuroticism scores decrease from adolescence to adulthood. The heritability of neuroticism is estimated between 0.30 and 0.60 and does not seem to vary greatly as a function of age. Shared environmental effects are rarely reported. Less is known about the role of genetic and environmental influences on the rank order stability of neuroticism in the period from adolescence to adulthood. We studied the stability of neuroticism in a cohort sequential (classical) twin design, from adolescence (age 14 years) to young adulthood (age 32 years). A genetic simplex model that was fitted to the longitudinal neuroticism data showed that the genetic stability of neuroticism was relatively high (genetic correlations between adjacent age bins >0.9), and increased from adolescence to adulthood. Environmental stability was appreciably lower (environmental correlations between adjacent age bins were between 0.3 and 0.6). This low stability was largely due to age-specific environmental variance, which was dominated by measurement error. This attenuated the age-to-age environmental correlations. We constructed an environmental covariance matrix corrected for this error, under the strong assumption that all age-specific environmental variance is error variance. The environmental (co)variance matrix corrected for attenuation revealed highly stable environmental influences on neuroticism (correlations between adjacent age bins were between 0.7 and 0.9). Our results indicate that both genetic and environmental influences have enduring effects on individual differences in neuroticism.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. 139-139
Author(s):  
Mary Feitosa ◽  
Mary Wojczynski ◽  
Jason Anema ◽  
E Warwick Daw ◽  
Lihua Wang ◽  
...  

Abstract Pulmonary function progressively declines with aging. Forced expiratory volume 1-second (FEV1) and forced vital capacity (FVC) are predictors of morbidity of cardiovascular diseases and all-cause mortality. Reduced pulmonary function has shown association with elevated chronic low-grade systemic inflammation and low muscle strength, and glycosylated hemoglobin (HbA1c). We evaluated whether FEV1 and FVC share common genetic factors with interleukin-6 (IL-6), high-sensitivity C-reactive protein (hsCRP), body mass index (BMI), handgrip strength, plasma glucose, and HbA1c employing correlated meta-analysis (CMA) in up to 3888 individuals (age range: 26-106). CMA tests whether combining genome-wide association (GWA) P-values from two or more traits enhances the ability to detect variants concomitantly influencing such traits. We considered a variant pleiotropic if the univariate GWA P≤1.0x10-02 and CMA P≤5.0x10-08. We identified pleiotropic loci for FEV1 (or FVC), IL-6 and hsCRP within CYCS, CALN1, TRIM9, AXIN2, MICAL3, and CMIP; FEV1 (or FVC) and BMI within CYP2U1, LINC00871-RPL10L-MDGA2, and LOC105372472; FEV1 (or FVC) and grip strength within XXYLT1 and MAL2; FEV1 and FPG within MAF; and FVC and HbA1c within HDHD3. Some loci were reported as GWAS suggestive (P&lt;10-6) for pulmonary function. Additionally, the identified loci harbor genes with roles in pro-inflammatory cytokine production, immune and inflammatory pathway, T-helper signaling pathway, transforming growth factor-beta, and T-cell receptor-alpha enhancer. Our findings suggest that inflammation is a feature of reduced pulmonary function with IL-6, hsCRP, BMI, low muscle strength, glucose, and HbA1c. Pleiotropic genetic associations across these traits may explain part of the correlated genetic architecture between pulmonary function and aging-related traits.


2009 ◽  
Vol 40 (9) ◽  
pp. 1475-1484 ◽  
Author(s):  
T. Reichborn-Kjennerud ◽  
N. Czajkowski ◽  
E. Røysamb ◽  
R. E. Ørstavik ◽  
M. C. Neale ◽  
...  

BackgroundMajor depressive disorder (MDD) co-occurs frequently with personality disorders (PDs). The extent to which this results from shared genetic or environmental risk factors remains uncertain.MethodYoung adult twins (n=2801) from the population-based Norwegian Institute of Public Health Twin Panel were assessed at personal interview for DSM-IV lifetime MDD and the 10 Axis II PDs. The relationship between MDD and dimensional representations of all PDs was explored by stepwise logistic regression. Multivariate Cholesky twin models were fitted using the Mx program, and genetic and environmental correlations were estimated.ResultsDimensional representations of borderline (BPD), avoidant (AVPD) and paranoid personality disorder (PPD) were independently and significantly associated with increased risk for MDD. Multivariate twin modeling indicated that one latent factor accounted for the genetic covariance between MDD and the three PDs. The genetic correlations between MDD and dimensional representations of BPD, AVPD and PPD were +0.56, +0.22 and +0.40 respectively. No sex differences or shared environmental effects were found. The structure of the individual-specific environmental factors influencing MDD and the three PDs were similar to the genetic factors but the environmental correlations were lower: +0.39, +0.23 and +0.27 respectively.ConclusionsThere is substantial overlap between liability factors for MDD and BPD from cluster B, PPD from cluster A and AVPD from cluster C. The vulnerability to general PD pathology and MDD seem to be closely related. The patterns of co-morbidity observed between diverse psychiatric disorders might result from just a few liability factors.


2020 ◽  
Author(s):  
Samantha M Freis ◽  
Claire Morrison ◽  
Jeffrey M. Lessem ◽  
John K. Hewitt ◽  
Naomi P. Friedman

Executive functions (EFs) and intelligence (IQ) are phenotypically correlated and heritable; however, they show variable genetic correlations in twin studies spanning childhood to middle age. We analyzed data from over 11,000 children (9-10-year-olds, including 749 twin pairs) in the Adolescent Brain Cognitive Development (ABCD) Study to examine the phenotypic and genetic relations between EFs and IQ in childhood. We identified two EF factors – Common EF and Updating-Specific, which were both related to IQ (rs = .64-.81). Common EF and IQ were heritable (53-67%), and their genetic correlation (rG = .86) was not significantly different than 1. These results suggest that EFs and IQ are phenotypically but not genetically separable in middle childhood.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yusuke Takahashi ◽  
Anqing Zheng ◽  
Shinji Yamagata ◽  
Juko Ando

AbstractUsing a genetically informative design (about 2000 twin pairs), we investigated the phenotypic and genetic and environmental architecture of a broad construct of conscientiousness (including conscientiousness per se, effortful control, self-control, and grit). These four different measures were substantially correlated; the coefficients ranged from 0.74 (0.72–0.76) to 0.79 (0.76–0.80). Univariate genetic analyses revealed that individual differences in conscientiousness measures were moderately attributable to additive genetic factors, to an extent ranging from 62 (58–65) to 64% (61–67%); we obtained no evidence that shared environmental influences were observed. Multivariate genetic analyses showed that for the four measures used to assess conscientiousness, genetic correlations were stronger than the corresponding non-shared environmental correlations, and that a latent common factor accounted for over 84% of the genetic variance. Our findings suggest that individual differences in the four measures of conscientiousness are not distinguishable at both the phenotypic and behavioural genetic levels, and that the overlap was substantially attributable to genetic factors.


2021 ◽  
pp. 021849232110100
Author(s):  
Neetika Katiyar ◽  
Sandeep Negi ◽  
Sunder Lal Negi ◽  
Goverdhan Dutt Puri ◽  
Shyam Kumar Singh Thingnam

Background Pulmonary complications after cardiac surgery are very common and lead to an increased incidence of post-operative morbidity and mortality. Several factors, either modifiable or non-modifiable, may contribute to the associated unfavorable consequences related to pulmonary function. This study was aimed to investigate the degree of alteration and factors influencing pulmonary function (forced expiratory volume in one second (FEV1) and forced vital capacity), on third, fifth, and seventh post-operative days following cardiac surgery. Methods This study was executed in 71 patients who underwent on-pump cardiac surgery. Pulmonary function was assessed before surgery and on the third, fifth, and seventh post-operative days. Data including surgical details, information about risk factors, and assessment of pulmonary function were obtained. Results The FEV1 and forced vital capacity were significantly impaired on post-operative days 3, 5, and 7 compared to pre-operative values. The reduction in FEV1 was 41%, 29%, and 16% and in forced vital capacity was 42%, 29%, and 19% consecutively on post-operative days 3, 5, and 7. Multivariate analysis was done to detect the factors influencing post-operative FEV1 and forced vital capacity. Discussion This study observed a significant impairment in FEV1 and forced vital capacity, which did not completely recover by the seventh post-operative day. Different factors affecting post-operative FEV1 and forced vital capacity were pre-operative FEV1, age ≥60, less body surface area, lower pre-operative chest expansion at the axillary level, and having more duration of cardiopulmonary bypass during surgery. Presence of these factors enhances the chance of developing post-operative pulmonary complications.


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