Hubert H B, Fabsitz R R, Feinleib M, Gwinn C
Am Rev Respir Dis. 1982 Apr;125(4):409-15. doi: 10.1164/arrd.1982.125.4.409.
As part of the NHLBI Twin Study, pulmonary function tests were successfully administered to 127 monozygotic and 141 dizygotic white male twin pairs 42 to 56 yr of age. Values for forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) were obtained using a standardized protocol for spirometry. Initial twin analyses showed significant genetic variance (p less than 0.001) for both FVC and FEV1, whether or not adjustments were made for individual differences in age and body size. After adjustment, heritability estimates were 0.91 and 0.77 for FVC and FEV1, respectively. Further analyses indicated that the observed heritability of FVC resulted from the effects of pack-years of smoking as well as from genetic factors related to body size. These findings suggest that there were no other significant genetic determinants of FVC. In contrast, heritability of FEV1 could not be explained by constitutional factors, such as height and weight, or by cigarette smoking or propensity for cardiopulmonary disease symptoms. Additional analyses were done based on frequency of twin contact, which served as an indirect measure of environmental similarity between cotwins. Results suggested that there was a shared environmental variation in FEV1, as well as genetic variation, that could not be attributed to subpopulation differences in measured characteristics. The findings of this study are consistent with theories of genetic influences on alveolar and airway development and argue in favor of early as well as adult environmental influences on pulmonary function.
作为美国国立心肺血液研究所双胞胎研究的一部分，对127对42至56岁的同卵白人男性双胞胎和141对异卵白人男性双胞胎成功进行了肺功能测试。使用标准化的肺活量测定方案获取用力肺活量（FVC）和一秒用力呼气量（FEV1）的值。最初的双胞胎分析显示，无论是否对年龄和体型的个体差异进行调整，FVC和FEV1均存在显著的遗传方差（p小于0.001）。调整后，FVC和FEV1的遗传率估计值分别为0.91和0.77。进一步分析表明，观察到的FVC遗传率是由吸烟包年数的影响以及与体型相关的遗传因素导致的。这些发现表明，FVC不存在其他显著的遗传决定因素。相比之下，FEV1的遗传率无法用身高、体重等体质因素、吸烟或心肺疾病症状倾向来解释。基于双胞胎接触频率进行了额外分析，双胞胎接触频率可作为双胞胎之间环境相似性的间接指标。结果表明，FEV1除了存在遗传变异外，还存在共同的环境变异，这不能归因于测量特征中的亚群体差异。本研究结果与遗传对肺泡和气道发育影响的理论一致，并支持早期以及成人环境对肺功能的影响。
