Presentation on ERS 2009

At the ERS 2009 coordinating investigator dr. Pieter Zanen gave an introduction to COPACETIC. Prof dr. Cisca Wijmenga presented the first results of de genome-wide association study.

At the ERS 2009 Annual Congress (Vienna, September 12-16) ERS inserted a session on EU Research Programmes. Three studies were presented: Gabriel (genetic factors of asthma), EvA (markers of emphysema / airway disease in COPD) and – last but not least - COPACETIC (genetic background of COPD).  Coordinating investigator dr. Pieter Zanen (University Medical Center Utrecht, the Netherlands) gave an introduction to COPACETIC presenting the basic concepts and study design of the COPACETIC project.

Subsequently prof. dr. Cisca Wijmenga (University Medical Center Groningen, the Netherlands) presented the first results on the genome-wide association study outcome. In her presentation she emphasized the stringent quality control of the data. The QC (quality control) -strategy encompassed removal of copy number variations (CNV’s), Hardy Weinberg equilibrium (HWE) assessment, minor allele frequencies, missingness, duplicate checks, ethnic outliers and population stratification and lastly relatedness.

The genome wide association study started with 620,901SNPs (Illumina QUAD610) and 522,902 SNPs passed quality control.

In COPACETIC subjects are labelled as ‘emphysema’, as ‘obstructive’ or as controls. The genome wide association study contains 1078 emphysema cases, 1036 obstructive cases and 1677 controls. For obstruction 79 significant SNPs (p<0.0001) are observed, where random chance would deliver 50 SNPs. For emphysema 59 significant SNPs are found, where chance would deliver 50 SNPs.

These data mean that the replication in the replication cohorts can be started.

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