rs11763336 (SDK1): linked to astrocytoma
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Key takeaways
- This variant is linked to high-grade astrocytoma with an effect size of 2.19 and p=2e-6 in about 9000 people.
- It increases expression of the SDK1 gene in cultured fibroblasts.
- The association comes from a genome-wide association study catalog entry.
Key takeaways
- This variant is linked to high-grade astrocytoma with an effect size of 2.19 and p=2e-6 in about 9000 people.
- It increases expression of the SDK1 gene in cultured fibroblasts.
- The association comes from a genome-wide association study catalog entry.
What the research says This variant is associated with high-grade astrocytoma, a brain cancer, in about 9000 individuals. It also increases expression of SDK1 gene in cultured fibroblasts.
Reported associations
- Astrocytoma (high-grade): the variant is linked to this cancer with an effect size of 2.19 and p=2e-6 [36810956].
- SDK1 expression: increased in fibroblasts, a tissue-specific effect.
Evidence quality The GWAS used about 9000 individuals and reported an effect size of 2.19 with p=2e-6 which is highly significant. The GTEx data shows a positive slope in fibroblasts indicating increased expression. No other studies directly discuss this variant.
Tissue-specific expression effects
- SDK1: increased expression in cultured fibroblasts [GTEx Portal].
Last lifestyle considerations on file for this variant.
Frequently asked questions
What does rs11763336 mean?
It is a genetic marker linked to high-grade astrocytoma and known to raise SDK1 expression in fibroblasts.
Is this variant related to cancer risk?
The GWAS shows an association with high-grade astrocytoma, but the effect size is modest and the sample size is limited.
Does it affect other genes?
It increases expression of SDK1 in fibroblasts; no other gene effects are reported.