rs10748849 (SH3PXD2A): lower lung function
Upload your raw genetic data once, we'll show you which variants you carry and what the research says.
Key takeaways
- This SNP lowers FEV1/FVC ratio with a reported effect size of 8.18 p=3e-16 in about half a million people.
- The variant reduces SH3PXD2A expression in lung and other tissues.
- Expression changes are observed across multiple tissue types.
Key takeaways
- This SNP lowers FEV1/FVC ratio with a reported effect size of 8.18 p=3e-16 in about half a million people.
- The variant reduces SH3PXD2A expression in lung and other tissues.
- Expression changes are observed across multiple tissue types.
What the research says The two GWAS studies report the variant is associated with lower FEV1/FVC ratio, both with very low p-values (3e-16 and 6e-17) in large samples of about half a million people each PMID 36914875 PMID 41565855.
Reported associations
- Lung function (FEV1/FVC ratio): the variant is associated with lower FEV1/FVC ratio, reported effect size 8.18 p=3e-16 in about 588 thousand individuals PMID 36914875.
- Lung function (FEV1/FVC ratio): the variant is associated with lower FEV1/FVC ratio, p=6e-17 in about 587 thousand individuals PMID 41565855.
Evidence quality The two GWAS studies report the variant is associated with lower FEV1/FVC ratio, both with very low p-values (3e-16 and 6e-17) in large samples of about half a million people each PMID 36914875 PMID 41565855. There are no conflicting findings.
Tissue-specific expression effects
- SH3PXD2A: reduced expression in lung, adipose subcutaneous, visceral omentum, skin sun exposed lower leg, nerve tibial GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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spirometry test for lung function Moderate
Genetic variant is significantly associated with FEV1/FVC ratio; spirometry establishes baseline lung function status.
Discuss with primary care physician about spirometry testing.
Frequently asked questions
What does rs10748849 mean?
It is a genetic variant in the SH3PXD2A gene that has been linked to lower lung function and reduced expression of the gene in several tissues.
Is this variant related to breathing problems?
The evidence shows an association with lower FEV1/FVC ratio, which can indicate reduced lung function but does not diagnose a disease.
Can I change my lifestyle because of this variant?
No specific lifestyle changes are recommended for this variant; it is not linked to any health advice.