Summary of main findings in genetic biomarkers in ECLIPSE studies
| Gene studies | |
|---|---|
| Smoking history | Suggestive associations identified for age at smoking initiation (chromosomes 2q21 and 6p21), lifetime mean number of cigarettes per day (CHRNA3/CHRNA5 and CYP2A6), current number of cigarettes smoked per day (CYP2A6) and smoking cessation (DBH)30 |
| COPD susceptibility | Several genomic regions associated with COPD susceptibility (FAM13A, HHIP, CHRNA3/CHRNA5/IREB2 and a region on chromosome 19). Others (ADAM19, FGF7 and SP-D) need replication in other populations |
| COPD subtypes | CHRNA3/5 significantly associated with pack-years, emphysema and airflow limitation42; HHIP not associated with pack-years but related to FEV1/FVC, lean body mass and exacerbation.42 |
| Emphysema | Borderline genome-wide significant association with BICD143 |
| Cachexia | Suggestive association of BMI and FFMI with FTO gene.46 The latter also related to FEV146 |
| Blood biomarkers | Genome-wide significant associations identified only for CC16 (chromosome 11) and SP-D (SFTPD and SNPs on chromosomes 6 and 16)47 |
BMI, body mass index; COPD, chronic obstructive pulmonary disease; DBH, dopamine beta-hydroxylase; ECLIPSE, Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points; FEV1, forced expiratory volume in 1 s; FFMI, fat-free mass index; FVC, forced vital capacity; HHIP, hedgehog interacting protein; SNP, single nucleotide polymorphism; SP-D, surfactant protein D.