rs11243976 (FUBP3): Height-Associated Variant

Key takeaways

• rs11243976 is one of 12,111 common genetic variants significantly linked to adult human height in the largest height GWAS conducted to date, using data from 5.4 million individuals.
• The variant maps to the FUBP3 (Far Upstream Element Binding Protein 3) gene, which encodes an RNA-binding protein.
• Carriers of the alternate allele show reduced FUBP3 expression specifically in thyroid tissue.
• The full set of 12,111 height-associated variants collectively explains about 40% of height variation in European-ancestry populations and roughly 10-20% in other ancestries.
• No individual effect size for rs11243976 itself is reported in the available source material.

What the research says A genome-wide association study of up to 5,380,080 individuals from 281 studies across five major ancestry groups identified 12,111 independent SNPs significantly associated with adult height, with rs11243976 among them; together these variants explain approximately 40% of phenotypic variance in European-ancestry samples and roughly 10-20% in other ancestry groups. Independently, GTEx data from 953 donors shows the alternate allele at this position is associated with reduced FUBP3 expression in thyroid tissue, a statistically robust finding (p=1.7e-9) GTEx Portal.

Reported associations

• Adult height: rs11243976 is among 12,111 SNPs significantly associated with adult human height in a meta-analysis of 281 studies encompassing up to 5.4 million participants spanning European, East Asian, Hispanic/admixed, African, and South Asian ancestry groups.

Evidence quality The height association for rs11243976 derives from one of the largest genetic studies conducted (n up to 5,380,080, across 281 studies), giving the overall analytical panel high statistical power. However, the source text reports aggregate findings for all 12,111 associated SNPs and does not provide a per-SNP p-value or effect size for rs11243976 specifically, limiting individual-variant interpretation. Prediction accuracy from this 12,111-SNP panel varies notably by ancestry, reaching about 40% of phenotypic variance in European-ancestry samples but only around 10-20% in East Asian, Hispanic, African, and South Asian groups; this disparity is thought to reflect differences in linkage disequilibrium structure and allele frequencies across populations. The GTEx thyroid eQTL signal for FUBP3 (p=1.7e-9, n=953 donors) is statistically robust but represents a gene-expression association rather than a functional or clinical outcome GTEx Portal.

Tissue-specific expression effects

• FUBP3: The alternate allele is associated with reduced FUBP3 expression in thyroid tissue, with a highly significant p-value of 1.7e-9 based on 953 donors in GTEx v11 GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.