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.
- Altmueller, J.
- Nuernberg, P.
- Kerkhof, M.
- van Schayck, O. C.
- Riemersma, R. A.
- van der Molen, T.
- de Monchy, J. G.
- Bosse, 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
BackgroundGenomewide 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. MethodsA 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 replicated S...
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