Expressive

rs1023522 (ITGB8): Brain and thyroid expression variant

Key takeaways

  • rs1023522's alternate allele is linked to lower ITGB8-AS1 gene activity in three tissues: brain hypothalamus, tibial nerve, and thyroid
  • The effect is strongest in brain hypothalamus tissue, based on GTEx v11 eQTL data from 953 donors
  • The statistical signal is consistent across all three tissues, each passing a stringent false-discovery rate threshold (FDR<0.05)
  • No disease-level or clinical trait associations are documented for this variant in the provided evidence

Key takeaways

  • rs1023522's alternate allele is linked to lower ITGB8-AS1 gene activity in three distinct tissues: brain hypothalamus, tibial nerve, and thyroid
  • The effect is strongest in brain hypothalamus tissue, based on GTEx v11 eQTL data from 953 donors
  • The statistical signal is consistent across all three tissues, each passing a stringent false-discovery rate threshold (FDR<0.05)
  • No disease-level or clinical trait associations are documented for this variant in the provided evidence

What the research says GTEx v11 eQTL analysis (953 donors, cis-window, FDR<0.05) identifies rs1023522 as a significant negative regulator of ITGB8-AS1 (a gene at the ITGB8 locus) expression across three tissue types GTEx Portal. The alternate allele reduces ITGB8-AS1 transcript levels with the largest effect in brain hypothalamus (log2-normalized slope -0.29, p=2.3e-5), followed by tibial nerve (slope -0.17, p=3.5e-5) and thyroid (slope -0.16, p=2.4e-5) GTEx Portal.

Reported associations

  • ITGB8-AS1 expression, brain hypothalamus: The alternate allele is associated with reduced expression (slope -0.29, p=2.3e-5, n=953 donors) GTEx Portal
  • ITGB8-AS1 expression, tibial nerve: The alternate allele is associated with reduced expression (slope -0.17, p=3.5e-5, n=953 donors) GTEx Portal
  • ITGB8-AS1 expression, thyroid: The alternate allele is associated with reduced expression (slope -0.16, p=2.4e-5, n=953 donors) GTEx Portal

Evidence quality All available evidence for rs1023522 comes from GTEx v11 eQTL data (953 donors), with p-values ranging from 2.3e-5 to 3.5e-5 across the three affected tissues, each meeting the FDR<0.05 threshold GTEx Portal. Effect sizes (log2-normalized slopes of -0.16 to -0.29) indicate modest but consistent reductions in ITGB8-AS1 transcript levels. No GWAS-level clinical trait associations, independent replication cohort data, or PharmGKB drug-response annotations are available in the provided study materials for this variant. The evidence base is therefore limited to tissue-specific gene-regulatory effects and should be considered preliminary pending further research.

Tissue-specific expression effects

  • ITGB8-AS1: Reduced expression in brain hypothalamus (strongest effect, slope -0.29), tibial nerve (slope -0.17), and thyroid (slope -0.16); the alternate allele consistently decreases this gene's transcript levels across all three tissue types GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs1023522 do?

rs1023522 is associated with reduced expression of ITGB8-AS1, a gene at the ITGB8 locus, in brain hypothalamus, tibial nerve, and thyroid tissue. It functions as an expression-QTL, meaning it regulates gene activity rather than altering a protein directly, based on GTEx data from 953 donors.

What is ITGB8-AS1?

ITGB8-AS1 is a gene located at the ITGB8 locus whose expression is reduced by the alternate allele of rs1023522 in brain hypothalamus, tibial nerve, and thyroid tissue. The available evidence describes its tissue-specific expression pattern but does not characterize its biological function in detail.

Is rs1023522 linked to any diseases?

No direct disease or clinical trait associations for rs1023522 are documented in the available study materials. Current evidence is limited to tissue-specific gene expression changes from GTEx eQTL data.

Which tissues are affected by rs1023522?

GTEx v11 data identifies three tissues where rs1023522 reduces ITGB8-AS1 expression: brain hypothalamus, tibial nerve, and thyroid. The brain hypothalamus shows the strongest effect (slope -0.29 in log2 units).

How reliable is the evidence for rs1023522?

Evidence comes from GTEx v11 eQTL analysis of 953 donors, with p-values between 2.3e-5 and 3.5e-5 across three tissues, all meeting a strict false-discovery rate threshold (FDR<0.05). No independent replication data or clinical outcome associations are currently available for this variant.