Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Florence Demenais; Patricia Margaritte-Jeannin; Hans Bisgaard; Klaus Bønnelykke; Mads Melbye; et al.; Dan L Nicolae

doi:10.1038/s41588-017-0014-7

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Florence Demenais^*, Patricia Margaritte-Jeannin, Hans Bisgaard, Klaus Bønnelykke, Mads Melbye, et al., Dan L Nicolae

^*Corresponding author af dette arbejde

Institut for Klinisk Medicin

157 Citationer (Scopus)

Abstract

We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma loci, established asthma associations at two loci previously implicated in the comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases. The enrichment in enhancer marks at asthma risk loci, especially in immune cells, suggested a major role of these loci in the regulation of immunologically related mechanisms.

Originalsprog	Engelsk
Tidsskrift	Nature Genetics
Vol/bind	50
Udgave nummer	1
Sider (fra-til)	42-50
Antal sider	9
ISSN	1061-4036
DOI	https://doi.org/10.1038/s41588-017-0014-7
Status	Udgivet - 2018

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AU - Bønnelykke, Klaus

AU - Melbye, Mads

AU - et al.

AU - Nicolae, Dan L

PY - 2018

Y1 - 2018

N2 - We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma loci, established asthma associations at two loci previously implicated in the comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases. The enrichment in enhancer marks at asthma risk loci, especially in immune cells, suggested a major role of these loci in the regulation of immunologically related mechanisms.

AB - We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma loci, established asthma associations at two loci previously implicated in the comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases. The enrichment in enhancer marks at asthma risk loci, especially in immune cells, suggested a major role of these loci in the regulation of immunologically related mechanisms.

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Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

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