Segregation analysis of two lung function indices in a random sample of young families: The humboldt family study

Chen, Yue; Horne, Sandra L.; Rennie, Donna; Dosman, James A.

doi:10.1002/(sici)1098-2272(1996)13:1<35::aid-gepi4>3.0.co;2-5

Cited by 47 publications

(28 citation statements)

References 26 publications

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“…Several studies have shown a lack of major genetic effects on forced expiratory volume in 1 s (FEV1) in general populations [7][8][9], whereas others suggest important genetic effects [10][11][12]. Moreover, CHEN et al [7] illustrated that different pulmonary function indices may have different mechanisms underlying the familial aggregation, e.g. the familial aggregation for FEV1 is most probably controlled by multiple loci with no major gene effect and caused by shared environmental factors, whereas for forced vital capacity (FVC), major genetic mechanisms are suggested [7,13].…”

supporting

confidence: 93%

“…Investigations in diverse populations have demonstrated familial aggregation of lung function at older ages [4][5][6], but whether the similarities of various pulmonary function testing variables are related to common familial environmental exposures or shared genes remains unclear. Several studies have shown a lack of major genetic effects on forced expiratory volume in 1 s (FEV1) in general populations [7][8][9], whereas others suggest important genetic effects [10][11][12]. Moreover, CHEN et al [7] illustrated that different pulmonary function indices may have different mechanisms underlying the familial aggregation, e.g.…”

mentioning

confidence: 99%

“…Moreover, CHEN et al [7] illustrated that different pulmonary function indices may have different mechanisms underlying the familial aggregation, e.g. the familial aggregation for FEV1 is most probably controlled by multiple loci with no major gene effect and caused by shared environmental factors, whereas for forced vital capacity (FVC), major genetic mechanisms are suggested [7,13].…”

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confidence: 99%

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Relationship between parental lung function and their children's lung function early in life

Putte‐Katier

Uiterwaal

Jong³

et al. 2011

European Respiratory Journal

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on behalf of the WHISTLER study group ABSTRACT: This study investigated the relationship between parental lung function and their children's lung function measured early in life.Infants were participants in the Wheezing Illnesses Study Leidsche Rijn (WHISTLER). Lung function was measured before the age of 2 months using the single occlusion technique. Parental data on lung function (spirometry), medical history and environmental factors were obtained from the linked database of the Utrecht Health Project.Parental data on pulmonary function and covariates were available in 546 infants. Univariate linear regression analysis demonstrated a significant positive relationship between the infant's respiratory compliance and parental forced expiratory flow at 25-75% of forced vital capacity (FEF25-75%) , forced expiratory volume in 1 s (FEV1) and forced vital capacity. A significant negative relationship was found between the infant's respiratory resistance and parental FEF25-75% and FEV1. No significant relationship was found between the infant's respiratory time constant and parental lung function. Adjusting for body size partially reduced the significance of the observed relationship; adjusting for shared environmental factors did not change the observed results.Parental lung function levels are predictors of the respiratory mechanics of their newborn infants, which can only partially be explained by familial aggregation of body size. This suggests genetic mechanisms in familial aggregation of lung function, which are already detectable early in life.

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confidence: 93%

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confidence: 99%

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confidence: 99%

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Relationship between parental lung function and their children's lung function early in life

Putte‐Katier

Uiterwaal

Jong³

et al. 2011

European Respiratory Journal

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“…Estimates of the broad-sense heritabilities of FEV1 and FVC derived from twin studies that have adjusted for body size, have ranged 0±y75%. In agreement with previous studies reporting a substantial heritability of FEV1 and FVC levels [11,18] the present results suggest substantial correlations in adult FEV1 and FVC levels between genetically related. Most of the observed familial correlation9s in adult FEV1 and FVC were attributable to genetic rather than environmental factors.…”

Section: Discussionmentioning

confidence: 99%

Familial aggregation and heritability of adult lung function: results from the Busselton Health Study

Palmer

Knuiman²,

Divitini³

et al. 2001

Eur Respir J

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Decreased spirometric indices are characteristic of asthma and other respiratory diseases. The aim of this study was to investigate the genetic and environmental components of variance of forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) measured in adulthood in an Australian population-based sample of 468 Caucasian nuclear families. The inter-relationships of the genetic determinants of these traits with asthma and atopic rhinitis were also investigated.Serial cross-sectional studies were conducted in the town of Busselton in Western Australia between 1966 and 1981 and follow-up of previous attendees was undertaken in 1995. Data from each subject included in this study were from a single survey in adulthood (25±60 yrs of age) when the subject was as close to age 45 yrs as possible.Multivariate analysis suggested that FEV1 and FVC levels were associated with age, sex, height, tobacco smoke exposure, asthma and atopic rhinitis. After adjustment for relevant covariates, FEV1 levels had a narrow-sense heritability (h 2 N) of 38.9% (SE 9.1 %). FVC levels had an h 2 N of 40.6% (SE 8.9%). Extended modelling demonstrated little overlap in the genetic determinants of asthma or atopic rhinitis and either FEV1 or FVC levels.The results of this study were consistent with the existence of important genetic determinants of adult lung function that are independent of asthma or other atopic disease, cigarette smoking, height, age or sex. Spirometric indices measure parameters of respiratory function in an individual which may re¯ect underlying pathological factors resulting in air¯ow obstruction. The most commonly used spirometric indices are the forced expiratory volume in one second (FEV1) and the forced vital capacity (FVC). FEV1 and FVC are strongly related to the severity of respiratory symptoms, atopy and elevated serum immunoglobulin E (IgE) levels in children and adults [1±4].Population-based studies indicate that FEV1 and FVC are approximately normally distributed in the general population [5], suggesting that multiple factors are involved in determining these traits. Pedigree-based studies of unselected, asthmatic and chronic obstructive pulmonary disease (COPD) families give consistent evidence for familial aggregation of spirometric indices [6±11], suggesting that around 20±60% of total phenotypic variance may be accounted for by familial factors. Estimates of the narrow-sense heritability (h 2

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“…Results of segregation analyses (Chen et al 1996;Givelber et al, 1998) and epidemiological studies (Silverman et al 1998) suggested polygenic inheritance of COPD, with the genetic component consisting of several genes of a small effect each, rather than of single major gene. The science of genetics largely depends on the study of variations (polymorphisms), and a molecular geneticist tries to identify a polymorphism in DNA that results in an altered phenotype (e.g.…”

Section: Approaches To the Identification Of Copd Susceptibility Genesmentioning

confidence: 97%

The role of gene polymorphisms in the pathogenesis of chronic obstructive pulmonary disease

et al. 2008

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Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality worldwide. Irreversible airflow limitation, both progressive and associated with an inflammatory response of the lungs to noxious particles or gases, is a hallmark of the disease. Cigarette smoking is the most important environmental risk factor for COPD, nevertheless, only approximately 20-30% of smokers develop symptomatic disease. Epidemiological studies, case-control studies in relatives of patients with COPD, and twin studies suggest that COPD is a genetically complex disease with environmental factors and many involved genes interacting together. Two major strategies have been employed to identify the genes and the polymorphisms that likely contribute to the development of complex diseases: association studies and linkage analyses. Biologically plausible pathogenetic mechanisms are prerequisites to focus the search for genes of known function in association studies. Protease-antiprotease imbalance, generation of oxidative stress, and chronic inflammation are recognized as the principal mechanisms leading to irreversible airflow obstruction and parenchymal destruction in the lung. Therefore, genes which have been implicated in the pathogenesis of COPD are involved in antiproteolysis, antioxidant barrier and metabolism of xenobiotic substances, inflammatory response to cigarette smoke, airway hyperresponsiveness, and pulmonary vascular remodelling. Significant associations with COPD-related phenotypes have been reported for polymorphisms in genes coding for matrix metalloproteinases, microsomal epoxide hydrolase, glutathione-S-transferases, heme oxygenase, tumor necrosis factor, interleukines 1, 8, and 13, vitamin D-binding protein and β-2-adrenergic receptor (ADRB2), whereas adequately powered replication studies failed to confirm most of the previously observed associations. Genome-wide linkage analyses provide us with a novel tool to identify the general locations of COPD susceptibility genes, and should be followed by association analyses of positional candidate genes from COPD pathophysiology, positional candidate genes selected from gene expression studies, or dense single nucleotide polymorphism panels across regions of linkage. Haplotype analyses of genes with multiple polymorphic sites in linkage disequilibrium, such as the ADRB2 gene, provide another promising field that has yet to be explored in patients with COPD. In the present article we review the current knowledge about gene polymorphisms that have been recently linked to the risk of developing COPD and/or may account for variations in the disease course.

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Segregation analysis of two lung function indices in a random sample of young families: The humboldt family study

Cited by 47 publications

References 26 publications

Relationship between parental lung function and their children's lung function early in life

Relationship between parental lung function and their children's lung function early in life

Familial aggregation and heritability of adult lung function: results from the Busselton Health Study

The role of gene polymorphisms in the pathogenesis of chronic obstructive pulmonary disease

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