rs10483813 - RAD51B: brain connectivity

Key takeaways

• This variant is linked to brain connectivity
• It reduces expression of the gene ENSG00000306173 in several tissues
• It increases expression of ZFP36L1 in cultured fibroblasts
• The effect sizes are small and p-values are very low

What the research says This variant is associated with node-level brain connectivity in a genome-wide association study [PMID 36800424]. The GWAS reports an effect size of 6.53, p=7e-11, based on about 30 thousand individuals. In tissue-specific expression data the variant reduces expression of ENSG00000306173 in skin sun exposed lower leg, adipose subcutaneous, visceral omentum, lung and skin not sun exposed suprapubic [GTEx Portal]. It also increases expression of ZFP36L1 in fibroblasts [GTEx Portal].

Reported associations

• Brain connectivity: the variant is linked to node-level brain connectivity with an effect size of 6.53, p=7e-11 [PMID 36800424].
• Gene expression: the variant reduces expression of ENSG00000306173 in whole blood, aorta, and thyroid [GTEx Portal].

Evidence quality The supplied studies do not report a direct trait association for this variant; the rsid appears via GWAS Catalog association. The GWAS uses 30 thousand individuals with an effect size of 6.53, p=7e-11. GTEx data shows expression changes in multiple tissues but these are not clinical outcomes.

Tissue-specific expression effects

• ENSG00000306173: reduced expression in whole blood, aorta, and thyroid [GTEx Portal].
• ZFP36L1: increased expression in cells cultured fibroblasts [GTEx Portal].

Lifestyle considerations No lifestyle considerations on file for this variant.