rs10963680 ADAMTSL1 linked to lean mass and liver enzymes
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Key takeaways
- Linked to appendicular lean mass with a small effect (0.013, p=3e-9)
- Associated with serum alkaline phosphatase levels showing modest elevation (0.019, p=9e-12) and liver enzyme activity
- Correlated with height measurements across UK Biobank studies
- May influence lung function as seen in FEV1/FVC ratio
Key takeaways
- Linked to appendicular lean mass with a small effect (0.013, p=3e-9)
- Associated with serum alkaline phosphatase levels showing modest elevation (0.019, p=9e-12) and liver enzyme activity
- Correlated with height measurements across UK Biobank studies
- May influence lung function as seen in FEV1/FVC ratio
What the research says The variant rs10963680 ADAMTSL1 is associated with appendicular lean mass in a genome-wide association study of about 450 thousand individuals [PMID 33097823]. It also shows modest increases in serum alkaline phosphatase levels across studies of over 350 thousand people [PMID 33462484] and liver enzyme activity [PMID 33972514]. Height measurements are linked to this variant in UK Biobank data with an effect size of about 0.0088 [PMID 34594039, 39789286].
Reported associations
- Appendicular lean mass: the variant is associated with a small increase in body composition (effect size 0.013, p=3e-9) [PMID 33097823].
- Serum alkaline phosphatase levels: the variant shows modest elevation (effect size 0.019, p=9e-12) [PMID 33462484] and a smaller effect in liver enzyme activity (effect size 0.0019, p=3e-11) [PMID 33972514].
- Height: the variant correlates with height across UK Biobank studies (effect size 0.0088, p=8e-13) [PMID 39789286] and baseline height (effect size 0.012, p=2e-16) [PMID 40374629].
- FEV1/FVC ratio: the variant is linked to lung function as measured by FEV1/FVC ratio with a significant effect (p=5e-8) [PMID 41565855].
Evidence quality The evidence comes from large GWAS catalog studies with sample sizes ranging from 350 thousand to over 525 thousand individuals and p-values below 1e-9, indicating strong statistical significance. All reported associations are consistent across studies except for the direction of the effect allele which is A in all cases.
Tissue-specific expression effects
- ADAMTSL1: reduced expression in whole blood, aorta, and thyroid GTEx Portal.
No lifestyle considerations on file for this variant.
Frequently asked questions
What does the rs10963680 ADAMTSL1 variant do?
It is linked to small increases in body composition and liver enzyme activity with modest effects on height and lung function.
Is this variant related to obesity?
The association is very weak (effect size 0.013) and not strong enough to suggest a direct link to obesity.
Does the variant affect gene expression?
Yes it reduces ADAMTSL1 expression in heart, aorta and thyroid tissues according to GTEx data.