rs10973772 (ALDH1B1): Multi-Tissue Expression Variant
Key takeaways
- This variant reduces ALDH1B1 gene activity in four body tissues - pancreas, thyroid, skeletal muscle, and testis
- The strongest single-tissue effect is in the pancreas, measured across 953 tissue donors in GTEx v11
- Thyroid tissue shows the widest regional impact, with five genes in the area showing reduced expression
- No specific disease or trait associations for this variant are reported in the available study excerpts; expression-level data is the primary evidence
Key takeaways
- This variant reduces expression of ALDH1B1 in four body tissues - pancreas, thyroid, skeletal muscle, and testis - based on expression data from 953 donors
- The effect is strongest in the pancreas, followed closely by thyroid and skeletal muscle
- In thyroid tissue, the same variant also reduces expression of four additional nearby genes
- Specific trait-level associations for this variant are not detailed in the available excerpts from the referenced GWAS and protein studies; expression data is the primary evidence on record
What the research says
GTEx v11 data from 953 donors identifies rs10973772 as an expression quantitative trait locus (eQTL - a variant that influences how much a gene is produced from DNA) for ALDH1B1, a member of the aldehyde dehydrogenase gene family, across four tissues: pancreas (effect size -0.39, p=3.1e-21), thyroid (effect size -0.30, p=1.4e-26), skeletal muscle (effect size -0.27, p=2.5e-20), and testis (effect size -0.15, p=1.5e-8), with all effects indicating reduced expression GTEx Portal. In thyroid tissue, the same variant additionally reduces expression of four genes neighboring this locus: IGFBPL1 (effect size -0.25, p=4.8e-22), ENSG00000291061 (effect size -0.27, p=1.3e-19), TCEA1P3 (effect size -0.22, p=9.1e-10), and VN1R48P (effect size -0.20, p=4.4e-8), all meeting FDR<0.05 GTEx Portal.
Reported associations
- ALDH1B1 expression, pancreas: Reduced expression, effect size -0.39 (p=3.1e-21) GTEx Portal
- ALDH1B1 expression, thyroid: Reduced expression, effect size -0.30 (p=1.4e-26) GTEx Portal
- ALDH1B1 expression, skeletal muscle: Reduced expression, effect size -0.27 (p=2.5e-20) GTEx Portal
- ALDH1B1 expression, testis: Reduced expression, effect size -0.15 (p=1.5e-8) GTEx Portal
- IGFBPL1 expression, thyroid: Reduced expression, effect size -0.25 (p=4.8e-22) GTEx Portal
- ENSG00000291061 expression, thyroid: Reduced expression, effect size -0.27 (p=1.3e-19) GTEx Portal
- TCEA1P3 expression, thyroid: Reduced expression, effect size -0.22 (p=9.1e-10) GTEx Portal
- VN1R48P expression, thyroid: Reduced expression, effect size -0.20 (p=4.4e-8) GTEx Portal
Evidence quality
The GTEx v11 eQTL evidence rests on 953 tissue donors with FDR-controlled significance thresholds, providing well-powered support for the expression-level findings at this locus. Two additional studies provide broader research context for this genomic region: a genome-wide association study (GWAS) of 153,950 Korean individuals in the KCPS-II Biobank examined 36 quantitative traits spanning metabolic biomarkers, thyroid hormone, hematological traits, and lifestyle factors, reporting 301 novel loci with quality-controlled test statistics (median S-LDSC intercept 1.04) and SNP heritability estimates per trait; separately, a protein quantitative trait locus (pQTL) analysis of 248 cardiometabolic-relevant serum proteins in 2,893 individuals from two Greek isolated populations using whole-genome sequencing detected 301 pQTL variants for 170 proteins, of which 58.8% replicated in an independent cohort from the Orkney Islands. Specific association statistics for rs10973772 are not reported in the available excerpts from either of those studies. The documented evidence for this variant therefore rests on tissue-level gene expression data, which captures regulatory mechanism rather than trait-level outcomes; clinical relevance cannot be inferred from eQTL findings alone.
Tissue-specific expression effects
- ALDH1B1: Reduced expression across all four measured tissues - strongest in pancreas, then thyroid, skeletal muscle, and testis GTEx Portal
- IGFBPL1: Reduced expression in thyroid tissue GTEx Portal
- ENSG00000291061: Reduced expression in thyroid tissue GTEx Portal
- TCEA1P3: Reduced expression in thyroid tissue GTEx Portal
- VN1R48P: Reduced expression in thyroid tissue GTEx Portal
Lifestyle considerations
No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs10973772 do to ALDH1B1 expression?
According to GTEx v11 data from 953 tissue donors, rs10973772 is associated with reduced expression of ALDH1B1 in four tissues: pancreas, thyroid, skeletal muscle, and testis. The effect is consistently negative across all four tissues, with the pancreas showing the largest reduction.
Which tissues are affected by rs10973772?
GTEx data shows ALDH1B1 expression is reduced in the pancreas, thyroid, skeletal muscle, and testis. Thyroid tissue shows the broadest regional effects, with four additional nearby genes - IGFBPL1, ENSG00000291061, TCEA1P3, and VN1R48P - also showing reduced expression.
Is rs10973772 linked to any diseases or health traits?
The available study excerpts do not report specific disease or trait associations for rs10973772. The documented effects are changes in gene expression across tissues, which represent potential regulatory mechanisms but do not establish clinical outcomes on their own.
What is ALDH1B1 and why is this variant notable?
ALDH1B1 is a gene belonging to the aldehyde dehydrogenase enzyme family. This variant is notable because it reduces the gene's activity simultaneously in four distinct tissue types, suggesting a broad regulatory role at this genomic location.
How strong is the evidence for rs10973772?
The eQTL evidence from GTEx v11 is well-powered, drawing on 953 donors with false discovery rate controls applied. Two large population studies examining quantitative traits and cardiometabolic proteins also exist in this research area, though specific findings for this variant were not available in the provided excerpts from those studies.