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遗传因素解释了无论采用何种肺功能测定定义,个体对慢性支气管炎、气流受限和慢性阻塞性肺疾病易感性的一半:一项全国性双胞胎研究。

Genetic Factors Explain Half of the Individual Susceptibility to Chronic Bronchitis, Airflow Obstruction and COPD Regardless of the Spirometric Definition: A Nationwide Twin Study.

作者信息

Meteran Howraman, Thomsen Simon Francis, Hjelmborg Jacob, Miller Martin R, Christensen Kaare, Sigsgaard Torben, Backer Vibeke

机构信息

Department of Respiratory Medicine, Copenhagen University Hospital - Hvidovre, Hvidovre, Denmark.

Department of Public Health, Environment, Occupation and Health, Aarhus University, Aarhus C, Denmark.

出版信息

Lung. 2025 Jun 27;203(1):70. doi: 10.1007/s00408-025-00825-3.

Abstract

BACKGROUND

Smoking is a major risk factor for lung function decline and chronic obstructive pulmonary disease (COPD), but the individual susceptibility to these traits cannot be explained solely by environmental risk factors.

AIM

To estimate the relative contribution of genetic and environmental factors to lung function, chronic bronchitis and COPD.

METHODS

12,449 twins aged 40-80 years participated in a nationwide survey using the Danish Twin Registry, which included a questionnaire, clinical examination and spirometry. Clinical COPD was defined by respiratory symptoms plus airflow obstruction. Biometric models of genetic and environmental latent factors were used to estimate the heritability after adjusting for sex, age, and height.

RESULTS

Mean (SD) age of the study population was 58.4 (9.6) years and mean BMI (kg/m) was 26.6 (4.4); 20% were current smokers and 52% were females. The heritability of FEV, FVC and FEV/FVC was 64% (60-67%), 61% (57-65%), and 50% (46-55%), respectively. Genetic factors explained 48% (24-72%) and 47% (16-78%), respectively, of the individual susceptibility to chronic bronchitis and clinical COPD.

CONCLUSION

Genetic factors explain at least half of the variation in lung function and around half of the individual susceptibility to chronic bronchitis and clinical COPD, respectively, when adjusted for sex, age, height.

摘要

背景

吸烟是肺功能下降和慢性阻塞性肺疾病(COPD)的主要危险因素,但个体对这些特征的易感性不能仅由环境危险因素来解释。

目的

评估遗传和环境因素对肺功能、慢性支气管炎和COPD的相对贡献。

方法

12449名年龄在40 - 80岁的双胞胎参与了一项全国性调查,该调查使用丹麦双胞胎登记册,包括问卷调查、临床检查和肺活量测定。临床COPD由呼吸道症状加气流受限定义。在调整性别、年龄和身高后,使用遗传和环境潜在因素的生物统计学模型来估计遗传度。

结果

研究人群的平均(标准差)年龄为58.4(9.6)岁,平均体重指数(kg/m)为26.6(4.4);20%为当前吸烟者,52%为女性。第一秒用力呼气容积(FEV)、用力肺活量(FVC)和FEV/FVC的遗传度分别为64%(60 - 67%)、61%(57 - 65%)和50%(46 - 55%)。遗传因素分别解释了个体对慢性支气管炎和临床COPD易感性的48%(24 - 72%)和47%(16 - 78%)。

结论

在调整性别、年龄、身高后,遗传因素分别解释了肺功能变异的至少一半以及个体对慢性支气管炎和临床COPD易感性的约一半。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0675/12204911/9bfc988fadc9/408_2025_825_Fig1_HTML.jpg

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