Expressive

rs10061752 (ADCY2): Heart and Artery Gene Expression

Key takeaways

  • The alternate allele at rs10061752 reduces ADCY2 expression across five distinct tissue types, including heart, arteries, and nerves.
  • ADCY2 encodes adenylyl cyclase 2, an enzyme that produces cAMP, a chemical messenger central to heart and nerve cell signaling.
  • The strongest expression effect is in heart atrial appendage tissue, with additional signals in tibial artery, tibial nerve, subcutaneous fat, and colon.
  • In testis tissue, the same variant alters expression of several nearby genes, including a long non-coding RNA called LINC02142.
  • Evidence comes from gene-expression data only; no direct disease or trait associations are reported from the studies available.

Key takeaways

  • The alternate allele at rs10061752 reduces ADCY2 expression across five distinct tissue types, including heart, arteries, and nerves.
  • ADCY2 encodes adenylyl cyclase 2, an enzyme that produces cAMP, a chemical messenger central to heart and nerve cell signaling.
  • The strongest expression effect is in heart atrial appendage tissue, with additional signals in tibial artery, tibial nerve, subcutaneous fat, and colon.
  • In testis tissue, the same variant alters expression of several nearby genes, including a long non-coding RNA called LINC02142.
  • Evidence comes from gene-expression data only; no direct disease or trait associations are reported from the studies available.

What the research says GTEx v11 data from 953 donors identifies rs10061752 as an expression quantitative trait locus (eQTL, meaning a variant statistically linked to how much a nearby gene is expressed), with the alternate allele consistently reducing ADCY2 expression across heart, vascular, neural, adipose, and gut tissues GTEx Portal. The variant additionally affects expression of LINC02142 (a long non-coding RNA gene) and two Ensembl-annotated genes (ENSG00000249865 and ENSG00000205976) in testis tissue, with the latter showing increased rather than decreased expression GTEx Portal. A metabolic genome-wide association study conducted in 490 elite athletes, genotyping 275,016 SNPs alongside high-resolution metabolomics profiling of 751 serum metabolites, investigated how genetic variants influence metabolite levels in the context of athletic performance and endurance sports, though this specific variant is not explicitly named in the available study text.

Reported associations

  • ADCY2 expression, heart atrial appendage: Alternate allele associated with reduced expression (slope -0.24, p=7.1e-7) GTEx Portal
  • ADCY2 expression, tibial artery: Alternate allele associated with reduced expression (slope -0.16, p=2.0e-8) GTEx Portal
  • ADCY2 expression, tibial nerve: Alternate allele associated with reduced expression (slope -0.13, p=2.1e-5) GTEx Portal
  • ADCY2 expression, subcutaneous adipose: Alternate allele associated with reduced expression (slope -0.11, p=1.5e-5) GTEx Portal
  • ADCY2 expression, transverse colon: Alternate allele associated with reduced expression (slope -0.09, p=4.1e-6) GTEx Portal
  • LINC02142 expression, testis: Alternate allele associated with reduced expression (slope -0.19, p=7.3e-12) GTEx Portal
  • ENSG00000249865 expression, testis: Alternate allele associated with reduced expression (slope -0.22, p=4.6e-9) GTEx Portal
  • ENSG00000205976 expression, testis: Alternate allele associated with increased expression (slope +0.20, p=1.3e-7) GTEx Portal

Evidence quality All reported associations for rs10061752 derive from the GTEx v11 eQTL dataset (953 donors, cis-window analysis, FDR < 0.05) GTEx Portal. The ADCY2 p-values across tissues range from 1.5e-5 (subcutaneous adipose) to 2.0e-8 (tibial artery), with all five tissue effects meeting the FDR threshold. The testis eQTL signals for LINC02142 and ENSG00000249865 carry particularly strong p-values of 7.3e-12 and 4.6e-9, respectively. These are eQTL associations - they describe a statistical relationship between genotype and gene expression levels measured in sampled tissue and do not establish causation for any clinical outcome. No genome-wide significant trait or disease associations for this specific variant are present in the provided studies. A metabolic GWAS of 490 elite athletes (275,016 SNPs, 751 metabolites) provides relevant context for the genetic landscape in which this variant sits, but does not report a direct association with rs10061752 in the available excerpt.

Tissue-specific expression effects

  • ADCY2: Reduced expression in heart atrial appendage, tibial artery, tibial nerve, subcutaneous adipose, and transverse colon; the heart atrial appendage shows the largest reduction among these five tissues GTEx Portal
  • LINC02142: Reduced expression in testis GTEx Portal
  • ENSG00000249865: Reduced expression in testis GTEx Portal
  • ENSG00000205976: Increased expression in testis GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does the ADCY2 gene do?

ADCY2 encodes adenylyl cyclase 2, an enzyme that converts ATP into cyclic AMP (cAMP) inside cells. cAMP is a chemical messenger that relays signals from hormones and neurotransmitters to cellular machinery, playing important roles in heart muscle, nerve cells, and fat tissue.

What tissues are affected by rs10061752?

Based on GTEx eQTL data from 953 donors, the alternate allele at rs10061752 is linked to reduced ADCY2 expression in heart atrial appendage, tibial artery, tibial nerve, subcutaneous fat, and transverse colon. Testis tissue shows altered expression of several nearby genes at this locus as well.

Is rs10061752 linked to any diseases or health conditions?

The studies provided do not report direct disease or clinical trait associations for rs10061752. Available evidence is limited to gene-expression effects measured in human tissue samples, which are considered mechanistic observations rather than established health outcomes.

What is an eQTL and how does it relate to rs10061752?

An eQTL (expression quantitative trait locus) is a genetic variant statistically linked to how much a nearby gene is expressed in tissue samples. For rs10061752, carrying the alternate allele is associated with lower ADCY2 expression levels in several tissue types, though this does not by itself confirm any health consequence.

Is ADCY2 related to athletic performance?

A genome-wide study of 490 elite athletes investigated metabolic quantitative trait loci related to endurance sports but did not explicitly name rs10061752 or ADCY2 among its reported findings in the available text. No direct link between this variant and athletic performance can be drawn from the studies provided here.