Expressive

rs1198872 (ATP6V1C2): Gene Expression Variant

Key takeaways

  • rs1198872 reduces ATP6V1C2 expression in at least eight tissues, from the aorta to spleen to lung
  • The expression-reducing effect points in the same direction across every tissue with available data
  • This variant appears in a large cardiac biomarker GWAS dataset but was not reported as a primary disease-linked hit
  • No clinical disease-outcome associations for rs1198872 are established in the provided literature

Key takeaways

  • rs1198872 is located in or near ATP6V1C2 (ENSG00000272275), a gene encoding a subunit of vacuolar ATPase, and the alternate allele consistently reduces its expression across at least eight tissues
  • The strongest expression-reducing effects appear in spleen, aorta, and visceral adipose tissue
  • This variant appears in a large cardiac biomarker (hs-cTnT) genomics dataset, though the available study text does not report it as a primary disease-linked finding
  • No direct disease-outcome associations for rs1198872 are established in the provided literature

What the research says A genome-wide association study (GWAS - a scan of the entire genome for disease-linked variants) of highly sensitive cardiac troponin T (hs-cTnT, a protein released into blood when heart muscle is damaged) was conducted across 9,491 European-Americans and 2,053 African-Americans free of coronary heart disease and heart failure; the study's primary signals mapped near NCOA2 on chromosome 8q13 and within TNNT2 (the gene encoding cardiac troponin T itself), but rs1198872 is not reported as a primary hit in the available text. GTEx v11 data from 953 donors documents rs1198872 as a cis-eQTL (a variant influencing expression of a nearby gene within approximately one megabase) for ATP6V1C2, with the alternate allele reducing expression in eight tissues at a false discovery rate below 5% GTEx Portal.

Reported associations

  • ATP6V1C2 expression in spleen: The alt allele is associated with reduced expression (beta slope −0.37 on a log2-normalized scale, p=5.4×10^-8) GTEx Portal
  • ATP6V1C2 expression in aorta: Reduced expression in arterial tissue (slope −0.31, p=1.0×10^-¹^0) GTEx Portal
  • ATP6V1C2 expression in visceral adipose (omentum): Reduced expression in the fat surrounding internal organs (slope −0.29, p=1.8×10^-¹^0) GTEx Portal
  • ATP6V1C2 expression in cultured fibroblasts: Reduced expression in connective-tissue cells grown in the laboratory (slope −0.28, p=3.4×10^-9) GTEx Portal
  • ATP6V1C2 expression in esophageal gastroesophageal junction: Reduced expression at the junction between esophagus and stomach (slope −0.28, p=3.1×10^-7) GTEx Portal
  • ATP6V1C2 expression in lung: Reduced expression (slope −0.24, p=1.3×10^-7) GTEx Portal
  • ATP6V1C2 expression in thyroid: Reduced expression (slope −0.23, p=2.6×10^-8) GTEx Portal
  • ATP6V1C2 expression in subcutaneous adipose: Reduced expression in fat beneath the skin (slope −0.23, p=7.7×10^-8) GTEx Portal

Evidence quality The expression data for rs1198872 derive from GTEx v11, which analyzed 953 donors using a cis-window approach with FDR<0.05; the uniform downward direction of effect across all eight tissues increases confidence in the eQTL signal, though it does not establish clinical consequence GTEx Portal. The hs-cTnT GWAS (n=9,491 European-Americans and 2,053 African-Americans from two prospective cohorts) provides phenotypic research context for this genomic neighborhood, but its reported top associations involve different loci; no phenotypic outcome data for rs1198872 specifically appear in the available study text. Overall, the evidence base is currently limited to mechanistic, expression-level data; disease-outcome associations remain unestablished in the provided literature.

Tissue-specific expression effects

  • ATP6V1C2 (ENSG00000272275): The alt allele reduces expression of this gene across spleen, aorta, visceral adipose, subcutaneous adipose, cultured fibroblasts, esophageal gastroesophageal junction, lung, and thyroid - a consistent downward pattern spanning cardiovascular, metabolic, and connective tissues GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does the ATP6V1C2 gene do?

ATP6V1C2 encodes a subunit of vacuolar ATPase, a protein complex involved in cellular ion transport and acid-base regulation. The research provided focuses on this gene's expression levels across tissues rather than its specific disease role.

Is rs1198872 linked to heart disease?

rs1198872 was included in the context of a cardiac biomarker (hs-cTnT) genome-wide study, but the available text does not report it as a significant hit for cardiac outcomes. Its documented effect is on ATP6V1C2 expression in arterial and other tissues, not a direct disease association.

Which tissues does rs1198872 affect?

According to GTEx data from 953 donors, rs1198872 reduces ATP6V1C2 expression in spleen, aorta, visceral adipose, subcutaneous adipose, cultured fibroblasts, esophageal gastroesophageal junction, lung, and thyroid.

What is an eQTL and why does it matter for rs1198872?

An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a nearby gene is expressed rather than changing the protein's structure. For rs1198872, carrying the alternate allele is associated with lower ATP6V1C2 expression across multiple tissues, though this mechanism has not been directly tied to a health outcome in the available research.

What is highly sensitive cardiac troponin T (hs-cTnT)?

Highly sensitive cardiac troponin T is a protein released into the bloodstream when heart muscle is damaged and is used as a sensitive biomarker for cardiac events. rs1198872 appears in a dataset from a large GWAS of hs-cTnT levels, though the available study text does not identify it as a primary associated variant.