Expressive

rs12347456 (GLDC): Thyroid and Lung Expression QTL

Key takeaways

  • rs12347456 is a variant at the GLDC locus that alters gene expression in thyroid and lung tissue, with opposite effects in the two organs
  • The ALT allele increases GLDC expression in thyroid tissue and decreases it in lung tissue
  • Three additional nearby genes - LINC02851, IL33, and RNF2P1 - also show altered expression in thyroid, lung, or skin with this variant
  • Current evidence for this variant comes from gene expression studies, not disease association research

Key takeaways

  • rs12347456 is a variant at the GLDC locus that alters gene expression in thyroid and lung tissue, with opposite effects in the two organs.
  • The ALT allele increases GLDC expression in thyroid tissue and decreases it in lung tissue.
  • Three additional nearby genes - LINC02851, IL33, and RNF2P1 - also show altered expression in thyroid, lung, or skin with this variant.
  • Current evidence for this variant comes from gene expression studies, not disease association research.

What the research says Gene expression data from GTEx v11, based on 953 donors and using a false discovery rate threshold below 0.05, identifies rs12347456 as a significant expression quantitative trait locus (eQTL - a variant statistically linked to how much a gene is expressed in a given tissue) for GLDC in thyroid tissue (p=2.4e-9) and lung tissue (p=2.3e-5) GTEx Portal. The locus also shows eQTL effects for LINC02851 in thyroid (p=1.8e-6) and lung, for IL33 in non-sun-exposed skin (p=4.2e-8), and for RNF2P1 in thyroid, indicating the variant lies within a genomic region with regulatory influence on multiple nearby genes GTEx Portal. A genome-wide association study in the Korean Cancer Prevention Study-II (KCPS2) Biobank examined 36 quantitative traits across 153,950 individuals but did not document specific phenotypic associations for this variant in the provided text.

Reported associations

  • GLDC expression in thyroid tissue: The ALT allele associates with increased expression (p=2.4e-9), the strongest eQTL signal at this locus GTEx Portal
  • GLDC expression in lung tissue: The ALT allele associates with decreased expression (p=2.3e-5) GTEx Portal
  • LINC02851 expression in thyroid tissue: The ALT allele associates with increased expression (p=1.8e-6) GTEx Portal
  • LINC02851 expression in lung tissue: The ALT allele associates with decreased expression (p=5.8e-5) GTEx Portal
  • IL33 expression in non-sun-exposed skin: The ALT allele associates with decreased expression (p=4.2e-8) GTEx Portal
  • RNF2P1 expression in thyroid tissue: The ALT allele associates with increased expression (p=7.7e-5) GTEx Portal

Evidence quality All documented associations for rs12347456 in the provided materials derive from GTEx v11 eQTL data (n=953 donors, FDR below 0.05), which identifies statistical links between genetic variants and gene expression levels in specific tissues GTEx Portal. The strongest signal is GLDC expression in thyroid tissue (p=2.4e-9), followed by IL33 in non-sun-exposed skin (p=4.2e-8) and LINC02851 in thyroid (p=1.8e-6). A GWAS of 153,950 Korean individuals from KCPS2 was provided as a study resource but did not include specific findings for this locus in the available text. eQTL associations describe gene regulatory mechanisms rather than disease outcomes, and the evidence should be considered mechanistic and preliminary with respect to clinical relevance.

Tissue-specific expression effects

  • GLDC: Increased expression in thyroid tissue and decreased expression in lung tissue with the ALT allele GTEx Portal
  • LINC02851: Increased expression in thyroid tissue and decreased expression in lung tissue with the ALT allele GTEx Portal
  • IL33: Decreased expression in non-sun-exposed skin tissue with the ALT allele GTEx Portal
  • RNF2P1: Increased expression in thyroid tissue with the ALT allele GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs12347456?

rs12347456 is a genetic variant located at the GLDC gene locus. Tissue expression data from GTEx shows it is statistically linked to changes in how much GLDC is expressed in thyroid and lung tissue, and also affects expression of several nearby genes.

What tissues are affected by rs12347456?

Based on GTEx eQTL data, rs12347456 is associated with expression changes in thyroid, lung, and non-sun-exposed skin tissue. GLDC and LINC02851 are affected in thyroid and lung, IL33 in skin, and RNF2P1 in thyroid.

Is rs12347456 linked to any diseases?

The provided research does not document direct disease associations for rs12347456. The available evidence describes regulatory effects on gene expression in specific tissues rather than direct links to clinical conditions.

What is an eQTL?

An eQTL (expression quantitative trait locus) is a genetic variant that is statistically linked to differences in how much of a gene is expressed in a specific tissue. rs12347456 is an eQTL for several genes across thyroid, lung, and skin tissue.

Why does rs12347456 affect multiple genes?

A single genetic variant can influence multiple nearby genes through shared regulatory regions in the genome. rs12347456 is associated with expression changes in four genes - GLDC, LINC02851, IL33, and RNF2P1 - across different tissue types.