SH3PXD2A - what the research actually says
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Key takeaways
- This variant is linked to diisocyanate-induced asthma.
- Expression of SH3PXD2A rises in EBV-transformed lymphocytes.
- The GWAS effect size is 34.08 p=1e-6.
Key takeaways
- This variant is linked to diisocyanate-induced asthma.
- Expression of SH3PXD2A rises in EBV-transformed lymphocytes.
- The GWAS effect size is 34.08 p=1e-6.
What the research says The GWAS catalog reports an association between the G allele and diisocyanate-induced asthma, with a reported effect size of 34.08 and p = 1e-6 in about 898 participants [PMID 25918132]. SH3PXD2A expression rises in EBV-transformed lymphocytes, with a slope of +0.79 and p = 4.6e-6 GTEx Portal.
Reported associations
- Diisocyanate-induced asthma the G allele is linked to higher risk with a reported effect size of 34.08 p=1e-6 in about 898 individuals [PMID 25918132].
Evidence quality The evidence comes from a single GWAS catalog association in 898 individuals reporting an effect size of 34.08 and p=1e-6 [PMID 25918132]. No other studies are provided, so replication is not addressed.
Tissue-specific expression effects
- SH3PXD2A: increased expression whole blood GTEx Portal.
No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs12248541 mean?
It is a genetic variant linked to asthma triggered by diisocyanates and associated with higher expression of SH3PXD2A in certain cells.
Is this variant dangerous?
The evidence shows an association with asthma but no direct health risk for most people.