rs11750568 (ZNF354C/ADAMTS2): Adult Height Variant
Key takeaways
- rs11750568 is one of 697 genetic variants linked to adult height in a study of over 250,000 people.
- All 697 height variants together explain about one-fifth of population-level variation in adult height.
- This variant's alternate allele is linked to reduced ZNF354C gene activity in fat, muscle, skin, breast tissue, and artery.
- The same allele is linked to increased ZNF879 gene activity in blood and connective tissue cells.
- Per-variant effects on height are small; these findings reflect group patterns across large populations.
Key takeaways
- rs11750568 is one of 697 genetic variants linked to adult height in a study of over 250,000 people.
- All 697 height variants together explain about one-fifth of population-level variation in adult height.
- This variant's alternate allele is linked to reduced ZNF354C gene activity in fat, muscle, skin, breast tissue, and artery.
- The same allele is linked to increased ZNF879 gene activity in blood and connective tissue cells.
- Per-variant effects on height are small; these findings reflect group patterns across large populations.
What the research says A genome-wide association study (GWAS, a method that scans the genome to find DNA variants linked to a trait) meta-analysis of 253,288 adults of European ancestry across 79 studies identified rs11750568 as one of 697 variants reaching genome-wide significance for adult height; these 697 variants clustered in 423 loci and together explained approximately 20% of phenotypic variance, while all common variants combined captured an estimated 60% of height heritability (heritability is the proportion of trait variation attributable to genetics). GTEx v11 eQTL data (an eQTL, or expression quantitative trait locus, is a variant associated with differences in nearby gene activity) shows the alternate allele of rs11750568 is also linked to reduced ZNF354C expression in five tissues and increased ZNF879 expression in two cell types GTEx Portal.
Reported associations
- Adult height: rs11750568 is one of 697 variants reaching genome-wide significance (P less than 5 x 10^-8) for adult height in a meta-analysis of 253,288 individuals of European ancestry; the 697 variants together explain approximately 20% of phenotypic variance for this trait.
Evidence quality The height association rests on a large GWAS meta-analysis of 253,288 individuals across 79 independent studies. Replication was robust: of 403 of the 697 significant variants tested on the Metabochip replication array (n = 80,067 from 37 independent studies), more than 99% were directionally consistent between discovery and replication cohorts, with a concordance P of 1.9 x 10^-160. The per-variant effect size for rs11750568 specifically is not provided in the available study excerpt; per-SNP contributions are expected to be small given that 697 variants together account for only about 20% of variance. The study sample was drawn primarily from European ancestry populations, and generalizability to other ancestries is uncertain. No conflicting findings are present among the data provided.
Tissue-specific expression effects
- ZNF354C: The alternate allele is associated with reduced expression in breast mammary tissue, subcutaneous fat (adipose tissue under the skin), skeletal muscle, sun-exposed leg skin, and tibial artery, across all five tissue types in GTEx v11 data GTEx Portal.
- ZNF879: The alternate allele is associated with increased expression in whole blood and cultured fibroblasts (connective tissue cells grown in the laboratory) GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What genes are near rs11750568?
rs11750568 is located near two genes: ZNF354C (zinc finger protein 354C, a transcription factor) and ADAMTS2 (a disintegrin and metalloproteinase with thrombospondin motifs 2, a metalloproteinase enzyme).
Is rs11750568 linked to height?
Yes. A genome-wide study of 253,288 adults identified rs11750568 as one of 697 variants reaching genome-wide significance for adult height. These 697 variants together explain roughly 20% of the variation in height seen across the population.
How does rs11750568 affect gene expression?
GTEx data shows the alternate allele of rs11750568 is linked to reduced expression of ZNF354C across five tissue types including fat, muscle, and skin, and to increased expression of ZNF879 in blood and fibroblasts. These are mechanistic signals, not direct indicators of health outcomes.
How strong is the evidence linking rs11750568 to height?
The association comes from one of the largest height genetics studies to date, covering 253,288 people across 79 cohorts, with replication in 80,067 individuals from 37 independent studies. More than 99% of the 697 significant variants showed directional consistency at replication (concordance P = 1.9 x 10^-160). The per-variant effect size for rs11750568 specifically was not reported in the available study excerpt.
Can rs11750568 predict how tall someone will be?
No individual genetic variant reliably predicts a person's height. The 697 height-associated variants found in this study together explain only about 20% of height variation across populations, meaning each variant contributes a very small share of that total.