Expressive

rs116700443 (PDGFRB): Genetic Variant Overview

Key takeaways

  • rs116700443 sits in or near PDGFRB, a gene encoding platelet-derived growth factor receptor beta, a protein involved in cellular growth and tissue signaling.
  • Large proteogenomics research has identified over 10,000 genetic associations across nearly 4,000 plasma proteins in studies spanning tens of thousands of participants.
  • About 81% of variants near their target protein-encoding gene replicate when tested using an independent laboratory platform, a key benchmark for this type of evidence.
  • The supplied research does not explicitly confirm an association for this specific variant, so its effects remain uncharacterized from these sources.

Key takeaways

  • rs116700443 is a genetic variant in or near PDGFRB (platelet-derived growth factor receptor beta), a gene encoding a cell-surface receptor involved in cellular growth signaling.
  • Large-scale proteogenomics research has mapped over 10,000 genetic associations across nearly 4,000 plasma proteins, providing a broad framework for understanding variants in protein-coding regions.
  • About 81% of cis-protein QTLs (genetic variants located near the gene encoding the protein they influence) replicate across independent measurement platforms, a benchmark for robustness in this type of research.
  • The supplied study text does not explicitly confirm a specific association for this variant, and its effects cannot be characterized from the provided excerpts alone.

What the research says Pietzner et al. performed a genome-proteome-wide association study testing 10.2 million genetic variants against 4,775 plasma proteins in 10,708 European-descent Fenland study participants, identifying 10,674 variant-protein associations across 2,584 genomic regions at p less than 1.004 x 10^-11, with replication of 61% of novel associations using a complementary Olink antibody-based platform. A separate study by Loya et al. introduced the Quickdraws algorithm and applied it to 405,088 UK Biobank individuals across 79 quantitative and 50 binary traits, reporting 4.97% more quantitative-trait associations than REGENIE and 3.25% more for binary traits, with gains replicated in Biobank Japan and FinnGen. Neither study excerpt explicitly names rs116700443 or PDGFRB as an associated target.

Reported associations

  • Plasma protein levels (framework context): Pietzner et al. found that 79.3% of protein-associated genomic regions were linked to a single protein target only, and cis-pQTLs replicated at a substantially higher rate (81.2%) than trans-pQTLs (variants influencing proteins encoded far from the variant's location) (44.2%) across an independent measurement platform; whether rs116700443 functions as a cis-pQTL for PDGFRB levels is not confirmed in the supplied text.
  • Complex trait associations (framework context): Loya et al. identified associations across 79 quantitative and 50 binary traits in 405,088 UK Biobank individuals, but the supplied excerpt does not list PDGFRB or rs116700443 among the results.

Evidence quality Pietzner et al. is among the largest plasma proteomic GWAS resources publicly described, covering 4,775 proteins in 10,708 participants with cross-platform replication (SomaScan aptamer-based and Olink antibody-based assays). Loya et al. analyzed over 405,000 UK Biobank individuals with independent replication in Biobank Japan and FinnGen. Both studies represent methodologically rigorous, large-scale frameworks. However, neither supplied excerpt contains explicit association data for rs116700443, so the evidence quality for this specific variant cannot be characterized from these sources. Any claims about this variant's phenotypic effects require direct citation of studies not present in the provided materials.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is PDGFRB?

PDGFRB encodes platelet-derived growth factor receptor beta, a cell-surface receptor that binds platelet-derived growth factors (chemical signaling proteins) and activates pathways that regulate cell growth, differentiation, and tissue repair.

What does rs116700443 do?

The supplied research describes frameworks for mapping genetic variants to protein levels and complex traits but does not explicitly report the effect of rs116700443. Its specific function cannot be described from the provided sources alone.

Is rs116700443 linked to disease?

The provided study excerpts do not confirm a specific disease association for this variant. The Pietzner et al. proteogenomics study mapped 1,859 gene-protein-disease connections, but whether this variant appears among them is not stated in the supplied text.

How are variants near PDGFRB typically studied?

Researchers use genome-proteome-wide association studies that test millions of variants against hundreds or thousands of measured blood proteins. Variants near the protein-encoding gene (cis-pQTLs) are prioritized as likely causal candidates and are validated by replication using independent measurement platforms.