Rare respiratory disease gene carriers actually have increased lung function
New research has revealed the healthy carriers of a gene that causes a rare respiratory disease are taller and larger than average, with greater respiratory capacity. The disease, alpha1-antitrypsin deficiency (AATD) can result in severely reduced lung capacity due to emphysema. It is found in about 1 in 2,000 people, and occurs when an individual inherits a defective gene copy from both parents.
This work was a collaboration between MRC LHA and Bristol University. The full press release can be found on Bristol University's webpage