Expressive

rs116675675 (CEP350): Tissue Expression Variant

Key takeaways

  • This variant is associated with altered expression of seven genes and transcripts across testis, whole blood, and tibial nerve tissue
  • In testis, FAM163A and two unannotated transcripts show reduced expression, while QSOX1 and two other unannotated transcripts show increased expression
  • AXDND1 shows increased expression in tibial nerve, and one unannotated transcript shows increased expression in whole blood
  • No disease or trait associations for this variant are documented in the provided studies

Key takeaways

  • This variant is associated with altered expression of seven genes and transcripts across testis, whole blood, and tibial nerve tissue
  • In testis, FAM163A and two unannotated transcripts show reduced expression, while QSOX1 and two other unannotated transcripts show increased expression
  • AXDND1 shows increased expression in tibial nerve, and one unannotated transcript shows increased expression in whole blood
  • No disease or trait associations for rs116675675 are documented in the provided studies

What the research says Tissue-specific gene expression (eQTL) data from GTEx (953 donors, FDR<0.05) shows that rs116675675, located near the CEP350 gene (centrosomal protein 350), is associated with altered expression of seven genes and transcripts across three tissue types, with the greatest number of effects concentrated in testis GTEx Portal. In testis, the variant is linked to reduced expression of FAM163A and two unannotated transcripts, and to increased expression of QSOX1 and two further unannotated transcripts; additional associations include increased expression of AXDND1 in tibial nerve and increased expression of one unannotated transcript in whole blood GTEx Portal. No genome-wide significant disease or complex trait associations for this locus are documented in the provided studies.

Reported associations

  • No documented trait associations: Based on the provided studies, rs116675675 has not been identified as a genome-wide significant locus for any disease or complex trait.

Evidence quality The entire available evidence base for rs116675675 in the provided sources consists of tissue-specific eQTL data from GTEx (953 donors, FDR<0.05). eQTL associations reflect gene-regulatory relationships but do not on their own establish disease causality. One large cross-ancestry GWAS on late-life memory performance (n=27,633) and memory decline (n=22,365) was provided in the evidence base but did not report this variant as a significant locus for either outcome. Overall the evidence for rs116675675 is sparse, confined to expression-level data, and provides no basis for inferring clinical significance.

Tissue-specific expression effects

  • FAM163A: reduced expression in testis GTEx Portal
  • ENSG00000243062: increased expression in testis GTEx Portal
  • ENSG00000261831: reduced expression in testis GTEx Portal
  • ENSG00000309635: increased expression in whole blood GTEx Portal
  • AXDND1: increased expression in tibial nerve GTEx Portal
  • QSOX1: increased expression in testis GTEx Portal
  • ENSG00000229407: increased expression in testis GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs116675675?

rs116675675 is a genetic variant located near the CEP350 gene. Current evidence documents its effects on gene expression in specific tissues, but no disease associations have been established in available studies.

What genes are affected by rs116675675?

GTEx data shows this variant is associated with altered expression of FAM163A, QSOX1, AXDND1, and several unannotated transcripts. Most of these effects occur in testis tissue, with additional effects in tibial nerve and whole blood.

Is rs116675675 linked to any disease?

Based on available studies, no disease associations have been documented for rs116675675. The evidence is currently limited to tissue-specific gene expression effects.

What tissue is most affected by the rs116675675 variant?

GTEx expression data shows testis tissue has the greatest number of associations, with five genes or transcripts showing altered expression. One additional effect each is seen in tibial nerve and whole blood.

What does an eQTL association mean for a genetic variant?

An eQTL (expression quantitative trait locus) association means the variant is statistically linked to changes in how much a nearby gene is expressed in a given tissue. This reflects a gene-regulatory relationship but does not by itself indicate disease causality.