Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma
- Nieuwenhuis, M. A.
- Siedlinski, M.
- van den Berge, M.
- Granell, R.
- Li, X.
- Niens, M.
- van der Vlies, P.
- Altmüller, J.
- Nürnberg, P.
- Kerkhof, M.
- van Schayck, O. C.
- Riemersma, R. A.
- van der Molen, T.
- de Monchy, J. G.
- Bossé, Y.
- Sandford, A.
- Bruijnzeel-Koomen, C. A.
- Gerth van Wijk, R.
- ten Hacken, N. H.
- Timens, W.
- Boezen, H. M.
- Henderson, J.
- Kabesch, M.
- Vonk, J. M.
- Postma, D. S.
- Koppelman, G. H.
DOIAbstract
Background: Genomewide association studies (GWASs) of asthma have identified single-nucleotide polymorphisms (SNPs) that modestly increase the risk for asthma. This could be due to phenotypic heterogeneity of asthma. Bronchial hyperresponsiveness (BHR) is a phenotypic hallmark of asthma. We aim to identify susceptibility genes for asthma combined with BHR and analyse the presence of cis-eQTLs among replicated SNPs. Secondly, we compare the genetic association of SNPs previously associated with (doctor's diagnosed) asthma to our GWAS of asthma with BHR. Methods: A GWAS was performed in 920 asthmatics with BHR and 980 controls. Top SNPs of our GWAS were analysed in four replication cohorts, and lung cis-eQTL analysis was performed on replicat...
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