rs10931779 (ANKRD44): Height and Gene Expression
Key takeaways
- rs10931779 is one of 12,111 significant height-associated variants found in a study of 5.4 million people
- The alternate allele increases ANKRD44 expression in testis and skin but decreases it in cultured fibroblasts
- The same allele increases ANKRD44-AS1 expression in blood, spleen, and immune cells
- These expression effects are tissue-specific and describe gene regulation rather than direct disease risk
- Height prediction from these variants is less accurate in non-European ancestry populations
Key takeaways
- rs10931779 is one of 12,111 variants significantly linked to adult height in a genome-wide study of 5.4 million individuals
- The alternate allele increases ANKRD44 expression in testis and skin, but decreases it in cultured fibroblasts
- The same alternate allele increases ANKRD44-AS1 expression in blood, spleen, immune cells, and small intestine
- These are tissue-specific gene-regulation signals, not direct disease predictions
- No drug response or lifestyle data are currently on record for this variant
What the research says A genome-wide association study (GWAS) analyzing data from 5.4 million individuals identified 12,111 independent SNPs (single-nucleotide polymorphisms, positions in the genome where one DNA letter varies between people) significantly associated with adult height; rs10931779, near the ANKRD44 and ANKRD44-IT1 locus, is among the variants mapped in that analysis. Those 12,111 SNPs collectively account for nearly all heritability of height from common genetic variants and explain approximately 40% of phenotypic variance in people of European ancestry. GTEx v11 expression data (953 donors, FDR<0.05) show that the alternate allele at this locus increases ANKRD44 expression most strongly in testis and moderately in skin, while decreasing it in cultured fibroblasts, and separately increases ANKRD44-AS1 expression in spleen, whole blood, EBV-transformed lymphocytes, and small intestine GTEx Portal.
Reported associations
- Adult height: rs10931779 is one of 12,111 genome-wide significant height-associated variants identified across 5.4 million individuals; no per-variant effect size for this SNP is available in the provided study extract
- ANKRD44 expression (eQTL): the alternate allele increases expression in testis (slope +0.82, p=1.2e-69), sun-exposed lower-leg skin (slope +0.29, p=3.1e-34), and non-sun-exposed suprapubic skin (slope +0.22, p=5.9e-19), and decreases expression in cultured fibroblasts (slope -0.20, p=1.2e-19) GTEx Portal
- ANKRD44-AS1 expression (eQTL): the alternate allele increases expression in spleen (slope +0.63, p=2.5e-21), EBV-transformed lymphocytes (slope +0.51, p=1.1e-14), whole blood (slope +0.38, p=2.5e-28), and small intestine terminal ileum (slope +0.28, p=4.9e-9) GTEx Portal
Evidence quality The height association derives from one of the largest genetic studies conducted for any human trait: 5.4 million participants across 281 studies, yielding genome-wide significant findings for 12,111 independent SNPs clustered in 7,209 genomic segments covering approximately 21% of the genome. The sample was predominantly of European ancestry (about 76%), with East Asian (8.8%), Hispanic (8.5%), African (5.5%), and South Asian (1.4%) groups also represented; predictive accuracy in non-European ancestry groups was considerably lower (roughly 10-20% of phenotypic variance explained, compared with 40% in European ancestry), which the authors attribute to differences in linkage disequilibrium (the tendency of nearby genetic variants to be co-inherited) and allele frequencies across ancestries. No specific p-value or effect size for rs10931779 individually is provided in the available study text. The eQTL evidence from GTEx v11 uses 953 donors with FDR<0.05 thresholds, and several tissue associations reach very strong significance (p=1.2e-69 for ANKRD44 in testis). The opposing direction of ANKRD44 eQTL effects across tissues (increased in skin and testis, decreased in fibroblasts) may reflect tissue-specific regulatory contexts, but the available data do not explain this mechanism.
Tissue-specific expression effects
- ANKRD44: increased expression in testis (strongest effect), sun-exposed lower-leg skin, and non-sun-exposed suprapubic skin; reduced expression in cultured fibroblasts GTEx Portal
- ANKRD44-AS1: increased expression in spleen, EBV-transformed lymphocytes, whole blood, and small intestine terminal ileum GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10931779?
rs10931779 is a single-nucleotide polymorphism (a position in the genome where one DNA letter varies between people) located near the ANKRD44 and ANKRD44-IT1 genes. It was identified as a significant height-associated variant in a large genome-wide study of 5.4 million individuals.
Is rs10931779 linked to height?
Yes. A genome-wide association study of 5.4 million individuals included rs10931779 among 12,111 variants significantly associated with adult height. No specific per-variant effect size for rs10931779 alone is available from the provided study text.
What does ANKRD44 do?
The provided studies do not describe the specific biological function of ANKRD44. What the eQTL data from GTEx show is that the rs10931779 alternate allele influences how much ANKRD44 RNA is produced, in a tissue-dependent way.
What are eQTLs and why do they matter for rs10931779?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a nearby gene is expressed. For rs10931779, the alternate allele increases ANKRD44 expression in testis and skin but decreases it in fibroblasts, suggesting it plays a regulatory role at this locus.
How reliable is the height association for rs10931779?
The overall GWAS is among the largest ever conducted, with 5.4 million participants and genome-wide significance thresholds. Predictive accuracy is highest in populations of European ancestry and lower in other ancestry groups due to differences in allele frequencies and genetic linkage.