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

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2018

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Demenais, F., P. Margaritte-Jeannin, K. C. Barnes, W. O. Cookson, J. Altmüller, W. Ang, R. G. Barr, et al. 2018. “Multiancestry association study identifies new asthma risk loci that colocalize with immune cell enhancer marks.” Nature genetics 50 (1): 42-53. doi:10.1038/s41588-017-0014-7. http://dx.doi.org/10.1038/s41588-017-0014-7.

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We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 cases, 118,538 controls) from ethnically-diverse populations. We identified five new asthma loci, uncovered two additional novel associations at two known asthma loci, established asthma associations at two loci implicated previously in 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. Enrichment of asthma risk loci in enhancer marks, especially in immune cells, suggests a major role of these loci in the regulation of immune-related mechanisms.

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