rs10963416 (ADAMTSL1): deeper brain sulci

Key takeaways

• This SNP is linked to deeper brain sulci in the vertex region
• It reduces ADAMTSL1 expression in cerebellum and thyroid tissue
• The association was found in a large GWAS of about 33 thousand people

What the research says This variant is associated with deeper vertex sulcal depth, a reported effect size of 6 and p=2e-9 in about 33 thousand individuals [34910505]. ADAMTSL1 expression is lower in cerebellum and higher in thyroid tissue according to GTEx data.

Reported associations Vertex-wise sulcal depth: the variant is linked to deeper brain sulci in the vertex region, reported effect size of 6 and p=2e-9 [34910505]. ADAMTSL1 expression: the variant is associated with reduced expression in cerebellum and increased expression in thyroid tissue according to GTEx data.

Evidence quality The GWAS used about 33 thousand individuals and found the association highly significant with a p-value of 2e-9 [34910505]. No other studies in this catalog discuss this variant directly. The GTEx expression data shows tissue-specific effects without replication.

Tissue-specific expression effects

• ADAMTSL1: reduced expression in brain cerebellum and thyroid tissue [GTEx]
• CNTLN: increased expression in thyroid tissue [GTEx]

No lifestyle considerations on file for this variant.