rs117262262 (TRIOBP): ANKRD54 expression variant

Key takeaways

• rs117262262 (TRIOBP gene region) is associated with increased ANKRD54 gene expression across eight tissue types, based on GTEx v11 data from 953 donors
• The expression-boosting effect spans diverse tissues including skeletal muscle, whole blood, adipose tissue, breast tissue, and portions of the digestive tract
• The most statistically significant effect is in skeletal muscle (p=2.2e-32); the largest slope magnitude is in EBV-transformed lymphocytes (slope +1.27)
• No health trait or disease associations for this variant are reported in the provided studies
• Gene expression changes (eQTL effects) describe how a variant regulates gene activity, not its direct health consequences

What the research says GTEx v11 data from 953 donors identifies this variant as an eQTL (expression quantitative trait locus, a variant that influences how much RNA a gene produces) for ANKRD54 across eight tissue types, with the ALT allele consistently linked to increased ANKRD54 expression GTEx Portal. The strongest statistical signal is in skeletal muscle (slope +1.15, p=2.2e-32), while the largest effect magnitude is in EBV-transformed lymphocytes (slope +1.27, p=1.5e-11) GTEx Portal. No GWAS-derived trait associations for this variant are documented in the provided literature.

Reported associations

• ANKRD54 gene expression (multiple tissues): The ALT allele is associated with increased ANKRD54 expression across all eight reported tissue types, with effect slopes ranging from +0.68 in cultured fibroblasts to +1.27 in EBV-transformed lymphocytes, all at FDR<0.05 GTEx Portal

Evidence quality GTEx v11 provides the sole documented associations for this variant, drawn from 953 donors across eight tissues. All effects show increased ANKRD54 expression with the ALT allele, with p-values ranging from 1.5e-11 to 2.2e-32, all meeting the FDR<0.05 threshold GTEx Portal. A scalable GWAS methodology paper (Loya et al., Nature Genetics, 2025), applied to approximately 405,000 UK Biobank participants, was provided as supporting context but does not report specific trait-level associations for this variant. The available evidence is limited to gene expression regulation; no trait-level replication or clinical association data is present in the provided literature, and the eQTL findings are statistically robust but clinically uncharacterized.

Tissue-specific expression effects

• ANKRD54: The ALT allele is associated with increased expression across all eight reported tissues. Largest slopes in EBV-transformed lymphocytes (+1.27), esophagus gastroesophageal junction (+1.16), and skeletal muscle (+1.15); intermediate effects in adipose subcutaneous tissue (+1.11), breast mammary tissue (+1.09), transverse colon (+1.08), and whole blood (+1.03); smallest effect in cultured fibroblasts (+0.68) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.