Polygenic analysis of genome-wide SNP data identifies common variants on allergic rhinitis

Publikation: Konferencebidrag uden forlag/tidsskriftPosterForskningpeer review


Background: Allergic Rhinitis (AR) is a complex disorder that affects many people around the world. There is a high genetic contribution to the development of the AR, as twins and family studies have estimated heritability of more than 33%. Due to the complex nature of the disease, single SNP analysis has limited power in identifying the genetic variations for AR. We combined genome-wide association analysis (GWAS) with polygenic risk score (PRS) in exploring the genetic basis underlying the disease.
Methods: We collected clinical data on 631 Danish subjects with AR cases consisting of 434 sibling pairs and unrelated individuals and control subjects of 197 unrelated individuals. SNP genotyping was done by Affymetrix Genome-Wide Human SNP Array 5.0. SNP imputation was performed using "IMPUTE2". Using additive effect model, GWAS was conducted in discovery sample, the genotypes and their effect sizes were used to calculate PRS in the testing sample. Gene-based test and biological pathway analysis were performed using "VEGAS2" software.
Result: We found 56 suggestive significant SNPs from GWAS (p < 10-5). A significant PRS (p=0.0016) was defined by 745 SNPs (P-value cut-off <0.0005) which explains 3% of the variation in AR. Furthermore, we found 1195 significant genes (p<0.05) enriched by their relevant SNPs. Biological pathway analysis identified multiple significant gene-sets with the top-most of them implicated in signaling pathways.
Conclusion: Our polygenic analysis identified significant common SNPs underlying AR. Gene-based and biological pathway analysis revealed significant and meaningful pathways implicated in AR.
Publikationsdatomaj 2017
Antal sider1
StatusUdgivet - maj 2017
Begivenhed50th European Human Genetics Conference: Anniversary Meeting - Bella Center, Center Blvd. 5, Copenhagen, Danmark
Varighed: 27. maj 201730. maj 2017
Konferencens nummer: 50


Konference50th European Human Genetics Conference
LokationBella Center, Center Blvd. 5


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