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

Research output: Contribution to conference without publisher/journalPosterResearchpeer-review

Abstract

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.
Original languageEnglish
Publication dateMay 2017
Number of pages1
Publication statusPublished - May 2017
Event50th European Human Genetics Conference: Anniversary Meeting - Bella Center, Center Blvd. 5, Copenhagen, Denmark
Duration: 27. May 201730. May 2017
Conference number: 50
https://2017.eshg.org/

Conference

Conference50th European Human Genetics Conference
Number50
LocationBella Center, Center Blvd. 5
Country/TerritoryDenmark
CityCopenhagen
Period27/05/201730/05/2017
Internet address

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