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Published on: May 10, 2024
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
Daniel F Gudbjartsson1, Unnur S Bjornsdottir, Eva Halapi
1deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. daniel.gudbjartsson@decode.is
This study identified genetic variants associated with eosinophil counts, crucial for understanding inflammatory diseases. These findings link specific single nucleotide polymorphisms (SNPs) to asthma and myocardial infarction risk.
Area of Science:
- Immunology
- Genetics
- Cardiovascular Disease
Background:
- Eosinophils are key leukocytes in inflammatory responses and disease pathogenesis.
- Understanding genetic factors influencing eosinophil counts is vital for inflammatory disease research.
Purpose of the Study:
- To conduct a genome-wide association scan to identify sequence variants affecting blood eosinophil counts.
- To investigate the association of identified SNPs with asthma and myocardial infarction.
Main Methods:
- Genome-wide association scan (GWAS) in 9,392 Icelanders.
- Replication studies in European and East Asian populations.
- Association analysis with asthma and myocardial infarction in large cohorts.
Main Results:
- Five SNPs at loci 2q12, 2q13, 3q21, 5q31, and 12q24 reached genome-wide significance for eosinophil counts.
- A SNP in IL1RL1 strongly associated with asthma.
- SNPs in WDR36, IL33, and MYB showed suggestive associations with eosinophil counts and atopic asthma.
- A SH2B3 SNP significantly associated with myocardial infarction.
Conclusions:
- Identified novel genetic loci influencing eosinophil counts.
- Demonstrated the role of specific genetic variants in asthma and myocardial infarction.
- Highlights the pleiotropic effects of eosinophil-associated genes across different diseases.
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