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Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n ≤ 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n ≤ 883). We confirmed the reported locus at 4q31 and identified associations with FEV1 or FEV1/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 × 10−12), 4q24 in GSTCD (2.18 × 10−23), 5q33 in HTR4 (P = 4.29 × 10−9), 6p21 in AGER (P = 3.07 × 10−15) and 15q23 in THSD4 (P = 7.24 × 10−15). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.
Facial pacing ultimately aims at improving the quality of life of people suffering from unilateral facial paralysis. A device to study facial pacing is presented. It is able to measure electromyography signals from the healthy side of the face and simultaneously activate the corresponding muscles on the paralyzed side with electrical stimulation. Tests with healthy participants are ongoing and clinical studies are to be started soon. Four measurement and four stimulation channels of the device enable studying different electrode configurations and stimulation patterns for recognizing and reanimating symmetrical facial expressions in the future. Preliminary testing with ten healthy volunteers showed average partial activation threshold of 2.50 mA (± 0.47 mA) and 3.00 mA (± 0.67 mA) for orbicularis oculi and orbicularis oris muscles, respectively, and full eye closure threshold of 4.45 mA (± 0.69 mA).