Article
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.
Journal of medical genetics - 1 Apr 2016
North Teri-Louise, Ben-Shlomo Yoav, Cooper Cyrus, Deary Ian J, Gallacher John, Kivimaki Mika, Kumari Meena, Martin Richard M, Pattie Alison, Sayer Avan Aihie, Starr John M, Wong Andrew, Kuh Diana, Rodriguez Santiago, Day Ian N M
Abstract excerpt
BACKGROUND: Several recessive Mendelian disorders are common in Europeans, including cystic fibrosis (CFTR), medium-chain-acyl-Co-A-dehydrogenase deficiency (ACADM), phenylketonuria (PAH) and alpha 1-antitrypsin deficiency (SERPINA1). METHODS: In a multicohort study of >19,000 older individuals, we investigated the relevant phenotypes in heterozygotes for these genes: lung function (forced expiratory volume in 1...
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