TY - JOUR T1 - COPD in the chromosomes JF - Thorax JO - Thorax DO - 10.1136/thoraxjnl-2022-218782 SP - thoraxjnl-2022-218782 AU - Beatrice Cockbain AU - Deborah Morris-Rosendahl AU - Adele Corrigan AU - Matthew David Hind Y1 - 2022/05/12 UR - http://thorax.bmj.com/content/early/2022/05/12/thoraxjnl-2022-218782.abstract N2 - A 38-year-old man with community-acquired pneumonia requiring hospital admission was referred to respiratory clinic for further investigations. He had no history of smoking, recreational drug use or occupational exposures to substances including coal, cadmium or silica dusts.1 His parents reported that he had feeding difficulties in childhood and mild learning difficulties. There was no family history of note.On examination, he was noted to be short statured (1.65 m) with a raised body mass index (29.8 kg/m2). He had multiple missing teeth and upslanting palpebral fissures, with his face slightly dysmorphic in appearance. He had no clubbing or lymphadenopathy and chest auscultation was unremarkable.Serology for vasculitides and infection were unremarkable. Alpha-1 antitrypsin levels were normal (2.2 g/L). Pulmonary function testing suggested obstruction with significant gas trapping (predicted values in parentheses): FEV1 1.70 L (50%); FVC 3.51 L … ER -