Department of Respiratory Medicine, Bispebjerg Hospital, Bispebjerg Bakke 23, 2400, Copenhagen, Denmark.
Lung. 2011 Aug;189(4):323-30. doi: 10.1007/s00408-011-9306-3. Epub 2011 Jun 10.
Heritability of forced expiratory volume in one second (FEV(1)), forced vital capacity (FVC), and peak expiratory flow (PEF) has not been previously addressed in large twin studies. We evaluated the genetic contribution to individual differences observed in FEV(1), FVC, and PEF using data from the largest population-based twin study on spirometry. Specially trained lay interviewers with previous experience in spirometric measurements tested 4,314 Danish twins (individuals), 46-68 years of age, in their homes using a hand-held spirometer, and their flow-volume curves were evaluated. Modern variance component sex-limitation models were applied to evaluate possible genetic differences between the sexes for FEV(1), FVC, and PEF. Estimates were adjusted for age, height, and smoking. For FEV(1), additive genetic effects of 61% (95% CI 56-65) were observed. For FVC, the additive genetic contribution was 26% (3-49%) and the dominant genetic contribution was 29% (4-54%). For PEF, our models showed an additive genetic contribution of 43% (31-52%) for men, but genetic influences were not significant in women. We found no significant differences between dizygotic same-sex twins and dizygotic opposite-sex twins for FEV(1), FVC, and PEF, suggesting absence of qualitative genetic differences between the sexes. Sex-difference heritability for PEF suggested possible quantitative genetic differences between the sexes for this index. Genetic effects contributed significantly to individual differences observed in FEV(1), FVC, and PEF. Qualitative sex differences were absent for all spirometric measures, while quantitative sex differences were observed only for PEF, with heritability being substantial in men but negligible in women.
一秒用力呼气容积(FEV1)、用力肺活量(FVC)和呼气峰流速(PEF)的遗传力以前尚未在大型双胞胎研究中得到解决。我们使用最大的基于人群的肺活量研究中的数据,评估了 FEV1、FVC 和 PEF 个体差异中遗传因素的贡献。经过专门培训的、具有先前肺量计测量经验的非专业调查员在双胞胎家中使用手持式肺量计对 4314 名丹麦双胞胎(个体)进行了测试,年龄在 46-68 岁之间,并对其流量-容积曲线进行了评估。现代方差分量性别限制模型用于评估 FEV1、FVC 和 PEF 中性别之间可能存在的遗传差异。估计值根据年龄、身高和吸烟情况进行了调整。对于 FEV1,观察到加性遗传效应为 61%(95%置信区间 56-65)。对于 FVC,加性遗传贡献为 26%(3-49%),显性遗传贡献为 29%(4-54%)。对于 PEF,我们的模型显示男性的加性遗传贡献为 43%(31-52%),但女性的遗传影响不显著。我们未发现 FEV1、FVC 和 PEF 同卵双生子和异卵双生子之间存在显著差异,这表明男女之间不存在定性遗传差异。PEF 的性别差异遗传力表明,该指标男女之间可能存在定量遗传差异。遗传因素对 FEV1、FVC 和 PEF 个体差异的观察结果有显著影响。所有肺量计测量指标均不存在性别定性差异,而仅在 PEF 中观察到性别定量差异,男性的遗传力较大,而女性的遗传力可忽略不计。