Expressive

rs11723207 (TOMM22P4/MIR4454): Educational Attainment

Key takeaways

  • rs11723207 was identified as a genome-wide significant variant for educational attainment in a study of over 1.1 million individuals.
  • The per-allele effect on years of schooling is small, with a median of approximately 1.7 extra weeks across all lead variants in the source study.
  • GTEx v11 data associate the alternate allele with reduced expression of ENSG00000295172 in testicular tissue.
  • The evidence comes from a single large meta-analysis; SNP-specific replication for rs11723207 is not reported in the provided data.

Key takeaways

  • rs11723207 was identified as a genome-wide significant variant for educational attainment in a study of over 1.1 million individuals.
  • The per-allele effect on years of schooling is small, with a median of approximately 1.7 extra weeks across all lead variants in the source study.
  • GTEx v11 data associate the alternate allele with reduced expression of ENSG00000295172 in testicular tissue.
  • The evidence comes from a single large meta-analysis; SNP-specific replication for rs11723207 is not reported in the provided data.

What the research says rs11723207 is one of 1,271 approximately independent, genome-wide-significant SNPs (P < 5x10^-8) identified in a GWAS of educational attainment (years of schooling completed) in approximately 1.1 million European-ancestry individuals; the set of implicated variants collectively points to genes involved in brain development and neuron-to-neuron communication. A joint multi-phenotype analysis of educational attainment with three related cognitive traits produced polygenic scores (weighted sums of effect alleles across many variants) explaining 11-13% of variance in educational attainment and 7-10% of variance in cognitive performance. GTEx v11 eQTL (expression quantitative trait locus) data from 953 donors additionally associate the alternate allele at this locus with reduced expression of ENSG00000295172 in testis GTEx Portal.

Reported associations

  • Educational attainment (years of schooling): rs11723207 is one of 1,271 genome-wide-significant SNPs identified in a GWAS of approximately 1.1 million European-ancestry individuals. The median per-allele effect across all lead SNPs in that study corresponds to approximately 1.7 extra weeks of schooling; within-family analysis in 22,135 sibling pairs supported the robustness of the associations.
  • ENSG00000295172 expression in testis: The alternate allele is associated with reduced expression of ENSG00000295172 in testicular tissue in GTEx v11 data (953 donors, p=5.1e-14, FDR < 5%) GTEx Portal.

Evidence quality The educational attainment association comes from a single large meta-analysis of approximately 1.1 million European-ancestry individuals, with genome-wide significance defined at P < 5x10^-8. Genomic inflation was notable (lambda_GC = 2.04, where lambda_GC is a measure of test-statistic inflation across the genome), though LD Score regression (a method that separates genuine polygenic signal from confounding bias) estimated only approximately 5% of this inflation to be attributable to bias rather than polygenicity. Within-family analyses in four sibling cohorts (22,135 sibling pairs) probed robustness against population stratification. No SNP-specific replication results for rs11723207 are included in the provided data. The GTEx eQTL in testis (p=5.1e-14) is statistically robust given the sample of 953 donors but reflects a gene-expression mechanism, not a behavioral or health outcome.

Tissue-specific expression effects

  • ENSG00000295172: Reduced expression in testis tissue based on GTEx v11 data (953 donors); the alternate allele is associated with a slope of -0.54 on a log2-normalized expression scale, indicating meaningfully lower expression in testis. No other tissues showed a significant eQTL at FDR < 5% in the provided data GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11723207?

rs11723207 is a genetic variant located near the TOMM22P4 pseudogene and the MIR4454 microRNA gene. It was identified as one of 1,271 genome-wide significant variants in a large study of educational attainment involving over 1.1 million people.

Is rs11723207 linked to academic achievement?

rs11723207 was found to be statistically associated with educational attainment (years of schooling completed) in a large genome-wide association study. The estimated per-allele effect across lead variants in that study was around 1.7 weeks of schooling, which is a small individual-level effect.

What does the TOMM22P4 - MIR4454 region do?

TOMM22P4 is a pseudogene, meaning it resembles a protein-coding gene but is not known to produce a functional protein. MIR4454 is a microRNA gene in the same genomic region. Their specific roles in educational attainment are not established in the provided research data.

How does rs11723207 affect gene expression?

GTEx v11 data show the alternate allele at rs11723207 is associated with reduced expression of ENSG00000295172 in testicular tissue, with a log2-scale slope of -0.54 (p=5.1e-14). This type of finding, called an eQTL (expression quantitative trait locus), shows a correlation between the variant and gene activity levels but does not directly indicate a clinical outcome.

How reliable is the evidence linking rs11723207 to educational attainment?

The evidence comes from a single large meta-analysis of over 1.1 million people, which is a notable strength. However, SNP-specific replication for rs11723207 is not reported in the available data, and the per-allele effect size is small (approximately 1.7 weeks of schooling at the median across lead variants).