Expressive

rs12248205 (CDH23): VSIR eQTL in Pancreas and Heart

Key takeaways

  • rs12248205 is in the CDH23 locus and has been examined in large-scale East Asian population genetics research
  • This variant is an eQTL, meaning it controls how much of the VSIR gene is produced in specific tissues
  • The alternative allele reduces VSIR expression in the pancreas and increases it in the heart left ventricle
  • These opposite tissue effects suggest a regulatory role that changes depending on organ context
  • Specific disease or trait associations for rs12248205 were not detailed in the available study data

Key takeaways

  • rs12248205 sits within the CDH23 locus and has been studied in the context of large-scale East Asian population genetics research
  • This variant acts as an expression quantitative trait locus (eQTL), meaning it influences how much of the VSIR gene is produced in specific tissues
  • The alternative allele is linked to reduced VSIR gene expression in the pancreas and increased VSIR expression in the left ventricle of the heart
  • These opposing tissue-specific effects suggest a regulatory role at this locus that differs by organ
  • Specific quantitative trait or disease associations for rs12248205 were not detailed in the available study data

What the research says A genome-wide association study of 153,950 Korean participants in the Korean Cancer Prevention Study-II (KCPS2) Biobank examined 36 quantitative traits and identified 301 previously unreported genetic loci, highlighting the importance of East Asian population representation in genetic discovery. Expression quantitative trait locus (eQTL) analysis from GTEx (953 donors) shows that the alternative allele at this variant is associated with reduced VSIR expression in the pancreas and increased VSIR expression in the left ventricle of the heart GTEx Portal. The GTEx data reports strong statistical signals for both tissue effects (pancreas: p=4.5e-19; heart left ventricle: p=8.6e-8) GTEx Portal.

Reported associations

  • Pancreatic VSIR expression: The alternative allele is associated with reduced VSIR expression in the pancreas (effect size slope: -0.32, p=4.5e-19) GTEx Portal
  • Cardiac VSIR expression: The alternative allele is associated with increased VSIR expression in the left ventricle of the heart (effect size slope: +0.20, p=8.6e-8) GTEx Portal

Evidence quality Tissue expression data from GTEx is based on 953 donors and reaches genome-wide significance in two tissues: pancreas (slope -0.32, p=4.5e-19) and heart left ventricle (slope +0.20, p=8.6e-8) GTEx Portal. The large Korean GWAS (n=153,950) provides context for the population-level genetic landscape in which this locus was examined, and meta-analysis with four additional biobanks (KoGES, Biobank Japan, Taiwan Biobank, UK Biobank) identified 4,588 loci not significant in any contributing single study. Specific findings for rs12248205 in relation to quantitative traits were not detailed in the available study excerpt, so the evidence base for phenotypic associations beyond eQTL effects is limited and should be considered preliminary.

Tissue-specific expression effects

  • VSIR: The alternative allele is associated with reduced VSIR expression in the pancreas and increased VSIR expression in the left ventricle of the heart, representing opposing tissue-specific regulatory effects GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What gene is rs12248205 associated with?

rs12248205 is located within the CDH23 locus. It also functions as an expression quantitative trait locus (eQTL) for the VSIR gene, influencing how much VSIR is produced in the pancreas and the heart.

What effect does rs12248205 have in the pancreas versus the heart?

GTEx expression data from 953 donors shows the alternative allele at rs12248205 is associated with reduced VSIR expression in the pancreas and increased VSIR expression in the left ventricle of the heart. These opposing effects in different tissues are a type of tissue-specific eQTL effect.

Has rs12248205 been studied in non-European populations?

Yes. A genome-wide association study of 153,950 Korean participants (KCPS2 Biobank) examined 36 quantitative traits and identified hundreds of novel loci, contributing to genetic research beyond predominantly European study populations.

What is the CDH23 gene?

CDH23 (Cadherin 23) is the gene at this locus. Research summarized here focuses on how rs12248205 affects nearby VSIR gene expression in the pancreas and heart, rather than on CDH23 function directly.

Is rs12248205 linked to any diseases?

The available study data does not detail confirmed disease associations for rs12248205. The most documented effect is on VSIR gene expression levels in the pancreas and heart based on expression data. Any disease implications would require additional research.