Expressive

rs1051121 (MMP1/WTAPP1): TRPC6 Expression Variant

Key takeaways

  • rs1051121 is located near the MMP1 and WTAPP1 genes
  • GTEx data link this variant to higher TRPC6 expression specifically in vaginal tissue
  • Available evidence is limited to gene-expression effects, with no direct disease associations reported
  • No drug-response or lifestyle data have been reported for this variant

Key takeaways

  • rs1051121 is located near the MMP1 and WTAPP1 genes.
  • GTEx v11 data link this variant to increased TRPC6 expression specifically in vaginal tissue.
  • Available evidence is limited to gene-expression effects, and no direct disease associations are reported in the reviewed literature.
  • No drug-response or lifestyle data have been reported for this variant in the reviewed studies.

What the research says The primary available evidence for rs1051121 comes from GTEx v11 expression quantitative trait locus (eQTL) analysis. An eQTL is a genetic variant that influences the level of gene expression in a given tissue. GTEx v11, drawing on 953 donors with a false discovery rate threshold of FDR<0.05 within a cis-window (the genomic region immediately surrounding the variant), links the alternate allele to increased expression of TRPC6 in vaginal tissue GTEx Portal. No genome-wide association study (GWAS) results for specific traits are reported for this variant in the reviewed literature.

Reported associations

  • TRPC6 expression (vaginal tissue): The alternate allele is associated with increased TRPC6 expression (eQTL slope +1.26, p=4.0e-6, FDR<0.05) in vaginal tissue based on GTEx v11 GTEx Portal

Evidence quality The available evidence for rs1051121 rests on a single eQTL observation from GTEx v11 (953 donors), showing increased TRPC6 expression in vaginal tissue at p=4.0e-6 GTEx Portal. This finding meets the FDR<0.05 threshold within the cis-window. No GWAS-level associations with specific diseases or quantitative traits are cited in the reviewed literature for this variant, and no conflicting associations were identified. A large-scale GWAS methods study applied across approximately 405,000 UK Biobank individuals and 13.3 million variants was reviewed but does not report specific association results for this variant. The evidence should be regarded as preliminary: it represents a single dataset with a single affected tissue and has not been independently replicated in the reviewed sources.

Tissue-specific expression effects

  • TRPC6: Increased expression in vaginal tissue GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs1051121?

rs1051121 is a genetic variant located near the MMP1 and WTAPP1 genes. It has been identified as an eQTL, meaning it influences the level of gene expression in certain tissues.

What gene does rs1051121 affect?

GTEx v11 data link rs1051121 to increased expression of the TRPC6 gene specifically in vaginal tissue. The variant is physically located near the MMP1 and WTAPP1 genes.

Is rs1051121 associated with any disease?

No disease associations for rs1051121 are reported in the reviewed literature. The available evidence is limited to its effect on TRPC6 gene expression in vaginal tissue.

What does an eQTL mean for this variant?

An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a gene is expressed. For rs1051121, carrying the alternate allele is associated with higher TRPC6 expression in vaginal tissue, but this does not by itself indicate disease risk or a clinical outcome.