Lung function in an Australian population: contributions of polygenic factors and the Pi locus to individual...

A study of lung function in 203 twin pairs aged 18-34 years living in Sydney detected significant genetic variation in females and males. There was no evidence of family environmental effects in either sex and most of the repeatable variation in females was heritable. However, there was evidence for systematic environmental differences between males affecting lung function so that the heritability was lower in males (about 0.6) than females (about 0.8). An effect of smoking on lung function was detected but accounted for less than 3% of the variance. Lung function in females was greater in the M subtype heterozygotes at the Pi locus than in the M subtype homozygotes or in other Pi phenotypes with low alpha 1-antitrypsin activity. The Pi polymorphism accounted for approximately 9% of the total variance in female lung function. No effect of the Pi locus was found in males.