Familial aggregation of FEF25-75 and FEF25-75/FVC in families with severe, early onset COPD

DeMeo, Dawn L.; Carey, Vincent J.; Chapman, Harold A.; Reilly, John J.; Ginns, Leo C.; Speizer, Frank E.; Weiss, Scott T.; Silverman, Edwin K.

doi:10.1136/thx.2003.012856

Cited by 66 publications

(49 citation statements)

References 23 publications

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“…A subsequent report from this cohort has determined that current or formerly smoking first-degree relatives have more bronchodilator responsiveness (23). Further data suggesting a genetic predisposition to early-onset COPD have been supported by the finding of familial aggregation in nonsmokers for a spirometric phenotype, FEF (forced expiratory flow, midexpiratory phase) (24). This cohort was also the subject of the first and subsequent linkage analyses for COPD-related phenotypes (25)(26)(27)(28).…”

Section: Discussionmentioning

confidence: 79%

Early-Onset Chronic Obstructive Pulmonary Disease Is Associated with Female Sex, Maternal Factors, and African American Race in the COPDGene Study

Foreman

Zhang

Murphy

et al. 2011

Am J Respir Crit Care Med

191

141

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Rationale: The characterization of young adults who develop lateonset diseases may augment the detection of novel genes and promote new pathogenic insights. Methods: We analyzed data from 2,500 individuals of African and European ancestry in the COPDGene Study. Subjects with severe, early-onset chronic obstructive pulmonary disease (COPD) (n ¼ 70, age , 55 yr, FEV 1 , 50% predicted) were compared with older subjects with COPD (n ¼ 306, age . 64 yr, FEV 1 , 50% predicted). Measurements and Main Results: Subjects with severe, early-onset COPD were predominantly females (66%), P ¼ 0.0004. Proportionally, early-onset COPD was seen in 42% (25 of 59) of African Americans versus 14% (45 of 317) of non-Hispanic whites, P , 0.0001. Other risk factors included current smoking (56 vs. 17%, P , 0.0001) and self-report of asthma (39 vs. 25%, P ¼ 0.008). Maternal smoking (70 vs. 44%, P ¼ 0.0001) and maternal COPD (23 vs. 12%, P ¼ 0.03) were reported more commonly in subjects with earlyonset COPD. Multivariable regression analysis found association with African American race, odds ratio (OR), 7.5 (95% confidence interval [CI], 2.3-24; P ¼ 0.0007); maternal COPD, OR, 4.7 (95% CI, 1.3-17; P ¼ 0.02); female sex, OR, 3.1 (95% CI, 1.1-8.7; P ¼ 0.03); and each pack-year of smoking, OR, 0.98 (95% CI, 0.96-1.0; P ¼ 0.03). Conclusions: These observations support the hypothesis that severe, early-onset COPD is prevalent in females and is influenced by maternal factors. Future genetic studies should evaluate (1) gene-by-sex interactions to address sex-specific genetic contributions and (2) gene-by-race interactions.Keywords: chronic obstructive pulmonary disease; female; African Americans Chronic obstructive pulmonary disease (COPD) is typically a disease that presents in late adulthood, often associated with cigarette smoking (1, 2). Although the prevalence of COPD has been changing, COPD is more prevalent in individuals older than 65 years of age (3). Previously considered a disease affecting primarily males, the prevalence of COPD in women and the number of women dying from COPD have increased (4). Maturity-onset diseases are complex; they may have multiple causes with contributions from environmental exposures, comorbidities, age-related degenerative changes, and genetic factors. Diseases occurring at an earlier age than traditionally expected may result from the interaction of inherited factors and environmental exposures.In 1998, a family-based cohort composed of 44 probands with severe, early-onset COPD recruited from specialized programs in lung transplantation, lung volume reduction surgery, and local pulmonary clinics and 249 first-or second-degree relatives was reported (5). Eligibility criteria for inclusion as a proband included the following: (1) age not greater than 52 years, (2) the absence of severe a 1 -antitrypsin deficiency, and (3) FEV 1 less than 40% predicted. This first report was notable for the high percentage of female probands (80%). However, whether earlyonset COPD is a specific phenotype and whether it is a ...

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Section: Discussionmentioning

confidence: 79%

Early-Onset Chronic Obstructive Pulmonary Disease Is Associated with Female Sex, Maternal Factors, and African American Race in the COPDGene Study

Foreman

Zhang

Murphy

et al. 2011

Am J Respir Crit Care Med

191

141

View full text Add to dashboard Cite

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“…This approach may be valid for the "stereotypical" patients, but it may be of much less clear value in "intermediate" (and frequent) cases, including adult-onset "asthma", asthmatics with "fixed" airflow limitation, smoking asthmatics or COPD patients with significant airflow reversibility (so-called asthma-COPD overlap syndrome) [10,12]. Furthermore, the pattern of airway inflammation even in classical cases may not be as distinct as has been assumed [43], and both diseases share risk factors which include the genetic background of the individual and family [11,44] and environmental exposures that modulate maximally attained lung function in early adult life [45,46].…”

Section: Precision Medicine Of Chronic Airway Diseases: Why?mentioning

confidence: 99%

Treatable traits: toward precision medicine of chronic airway diseases

et al. 2016

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Asthma and chronic obstructive pulmonary disease (COPD) are two prevalent chronic airway diseases that have a high personal and social impact. They likely represent a continuum of different diseases that may share biological mechanisms (i.e. endotypes), and present similar clinical, functional, imaging and/or biological features that can be observed (i.e. phenotypes) which require individualised treatment. Precision medicine is defined as "treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic, or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations". In this Perspective, we propose a precision medicine strategy for chronic airway diseases in general, and asthma and COPD in particular. @ERSpublications A discussion of the concept of "treatable traits" as a way towards precision medicine of chronic airway diseases

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“…The objective of our research was to study the sensitivity and specificity of FEF 25-75% compared to FEV1% in the diagnosis of COPD. 18,19,20 The study was conducted in the Pulmonary Function Test (PFT) Laboratory of our Medical College. PFT data from 304 patients (194 COPD patients and 110 normal individuals) referred to the lab from Chest Clinic of the hospital was studied.…”

Section: Discussionmentioning

confidence: 99%

Can Fef 25-75% Be Used as a Valid Alternative to Fev1% in Copd Diagnosis?

Shenoy¹

2018

jebmh

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BACKGROUNDAccording to American Thoracic Society criteria FEV1% is the gold standard test in the diagnosis of COPD. The prospect of detecting lung disease, at an early stage has led to widespread measurement of FEF 25-75%. This study will provide an alternative to FEV1% in the diagnosis of COPD, so that the difficulties faced by the patients and the technicians in the measurement of FVC and FEV1% can be minimised.

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Familial aggregation of FEF25-75 and FEF25-75/FVC in families with severe, early onset COPD

Cited by 66 publications

References 23 publications

Early-Onset Chronic Obstructive Pulmonary Disease Is Associated with Female Sex, Maternal Factors, and African American Race in the COPDGene Study

Early-Onset Chronic Obstructive Pulmonary Disease Is Associated with Female Sex, Maternal Factors, and African American Race in the COPDGene Study

Treatable traits: toward precision medicine of chronic airway diseases

Can Fef 25-75% Be Used as a Valid Alternative to Fev1% in Copd Diagnosis?

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