Expressive

rs117112426 (PDGFDDN): MMP27 Expression in Skin

Key takeaways

  • The ALT allele is linked to higher MMP27 gene activity in non-sun-exposed skin, based on GTEx data from 953 donors.
  • This is a gene expression effect (eQTL), not a disease risk finding.
  • No disease or trait associations are documented in the studies reviewed here.
  • Evidence is limited to one tissue type with no replication data available.

Key takeaways

  • The ALT allele is linked to higher MMP27 gene activity in non-sun-exposed skin, based on GTEx data from 953 donors.
  • This is a gene expression effect (eQTL), not a disease risk finding.
  • No disease or trait associations are documented in the studies reviewed here.
  • Evidence is limited to one tissue type with no replication data available.

What the research says GTEx v11 data from 953 donors identified rs117112426 as an eQTL (a genetic variant that influences how much a nearby gene is expressed) for MMP27 in non-sun-exposed suprapubic skin, with the ALT allele linked to increased expression at a false discovery rate (FDR) below 0.05 GTEx Portal. A large-scale genome-wide association study applying the Quickdraws mixed-model method analyzed approximately 405,088 UK Biobank participants across 79 quantitative and 50 binary traits, though the provided study text does not report specific associations for rs117112426.

Reported associations

  • No trait or disease associations for rs117112426 are reported in the studies reviewed here. Gene expression effects in skin tissue are documented in the tissue-specific expression section below.

Evidence quality The sole direct evidence for rs117112426 comes from GTEx v11, based on 953 donors with cis-window analysis at FDR below 0.05 GTEx Portal. The eQTL effect (slope +0.30 in non-sun-exposed suprapubic skin, p=8.8e-5) is a mechanistic signal indicating altered gene regulation, not a disease association. No GWAS trait associations, clinical annotations, or replication studies for this variant are included in the materials reviewed here, so the overall evidence base is limited and preliminary.

Tissue-specific expression effects

  • MMP27: the ALT allele is associated with increased expression in non-sun-exposed suprapubic skin GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117112426?

rs117112426 is a genetic variant in the PDGFDDN gene region. It has been identified as an eQTL, meaning it influences how much a nearby gene is expressed in specific tissues.

What effect does rs117112426 have on MMP27?

Carriers of the ALT allele show increased MMP27 gene expression in non-sun-exposed suprapubic skin, based on GTEx v11 data from 953 donors. The effect was specific to that tissue in the available data.

Is rs117112426 linked to any diseases?

No disease or trait associations for rs117112426 are documented in the studies reviewed here. The only known effect is a gene expression change in a specific skin tissue.

What is an eQTL and why does it matter?

An eQTL (expression quantitative trait locus) is a genetic variant that affects how much a specific gene is expressed, or turned on, in a particular tissue. It describes a possible biological mechanism but does not directly indicate disease risk.

Which gene does rs117112426 affect expression of?

The variant affects expression of MMP27 in non-sun-exposed suprapubic skin. The variant itself is located in the PDGFDDN gene region.