Table 2

Summary of main findings in genetic biomarkers in ECLIPSE studies

Gene studies
Smoking historySuggestive 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 susceptibilitySeveral 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 subtypesCHRNA3/5 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
EmphysemaBorderline genome-wide significant association with BICD143
CachexiaSuggestive association of BMI and FFMI with FTO gene.46 The latter also related to FEV146
Blood biomarkersGenome-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.