Seven of the eight (87.5%) individuals we identified as bi-allelic carriers of damaging variation in ATP2C2 (6 CH and 2 homozygous) were diagnosed with COPD (median age of diagnosis = 54.1 [interquartile range = 46.2–67.5] years) (Figures 5C and 5D). Here, ATP2C2 is linked to chronic obstructive pulmonary disease.