Expressive

rs11586356 (CATSPERE): Atrial Fibrillation Locus

Key takeaways

  • A cross-population genome-wide study of more than 252,000 atrial fibrillation cases identified this variant among 525 significant genetic loci
  • The alternate allele is associated with increased ADSS2 gene expression in skeletal muscle tissue
  • No individual effect size for this variant is reported in the available literature, so its contribution within the 525-locus set cannot be quantified here
  • Evidence is preliminary, with no replication study or functional follow-up specific to rs11586356 on record

Key takeaways

  • A cross-population genome-wide study of more than 252,000 atrial fibrillation cases identified this variant among 525 significant genetic loci
  • The alternate allele is associated with increased ADSS2 gene expression in skeletal muscle tissue
  • No individual effect size for this variant is reported in the available literature, so its contribution within the 525-locus set cannot be quantified here
  • Evidence is preliminary, with no replication study or functional follow-up specific to rs11586356 on record

What the research says A cross-population genome-wide association study (GWAS) meta-analysis combining data from European, East Asian, African, and Admixed American ancestry groups, with 252,438 atrial fibrillation (AF, a condition in which the heart beats with an irregular rhythm) cases, identified 525 genetic loci meeting genome-wide significance, a statistical threshold that limits false discoveries in large genetic studies; rs11586356 is among the loci in this set. Expression quantitative trait locus (eQTL) data from GTEx v11, a tissue gene-expression reference resource covering 953 donors, show that the alternate allele at rs11586356 is associated with increased expression of ADSS2 (adenylosuccinate synthase 2, an enzyme involved in the purine biosynthesis pathway) specifically in skeletal muscle GTEx Portal.

Reported associations

  • Atrial fibrillation: rs11586356 is one of 525 loci reaching genome-wide significance in a cross-population GWAS meta-analysis of 252,438 AF cases spanning four ancestry groups; no individual odds ratio or p-value for this variant specifically is reported in the available source text
  • ADSS2 skeletal muscle expression: the alternate allele is linked to increased ADSS2 expression in skeletal muscle (GTEx v11 eQTL slope +0.25, p=1.4x10^-5, FDR<0.05, n=953 donors) GTEx Portal

Evidence quality The AF signal derives from a large, multi-ancestry meta-analysis with 252,438 cases, a well-powered sample by GWAS standards, including populations from Europe, East Asia, Africa, and the Americas. However, the available study text does not report a specific odds ratio, beta coefficient, or p-value for rs11586356 individually, so the magnitude of this variant's contribution to AF risk within the 525-locus set cannot be assessed here. The ADSS2 eQTL signal in skeletal muscle is based on 953 GTEx v11 donors and reaches p=1.4x10^-5, meeting the FDR<0.05 threshold applied by GTEx GTEx Portal. No replication study or functional follow-up specific to rs11586356 appears in the available literature, and no conflicting evidence is reported; findings should be treated as preliminary.

Tissue-specific expression effects

  • ADSS2: the alternate allele is associated with increased ADSS2 expression in skeletal muscle, meaning carriers of this allele tend to show higher activity of this gene in muscle tissue; no eQTL effects in other tissues are reported in the available data GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11586356?

rs11586356 is a single nucleotide polymorphism (a one-letter change in DNA) located at or near the CATSPERE gene. It has been identified in a large genome-wide study of atrial fibrillation and is also linked to changes in gene expression in skeletal muscle.

Is rs11586356 linked to atrial fibrillation?

A cross-population genome-wide association study of more than 252,000 atrial fibrillation cases identified rs11586356 among 525 significant genetic loci. The specific effect size for this variant individually has not been reported in the available literature.

What does the GTEx data show for rs11586356?

GTEx v11 data from 953 tissue donors show that the alternate allele at rs11586356 is associated with increased expression of the ADSS2 gene in skeletal muscle. This is an expression-level finding and does not directly indicate a health outcome.

What gene is rs11586356 in?

rs11586356 is annotated to or near the CATSPERE gene. GTEx data also show this variant affects expression of the ADSS2 gene in skeletal muscle tissue.

How reliable is the evidence for rs11586356?

The evidence is preliminary. The variant appears in a large, well-powered atrial fibrillation GWAS, but no individual effect size or independent replication has been reported for it specifically in the available sources. The GTEx eQTL finding meets a standard statistical threshold but has not been independently replicated in the provided data.