rs116959820 (TIMP3, SYN3): Genetic Variant Overview
Key takeaways
- rs116959820 is located in the region containing TIMP3 (tissue inhibitor of metalloproteinases 3) and SYN3 (synapsin III).
- Large GWAS analyses of UK Biobank data (~405,000 individuals, 13.3 million variants) provide the research context for this variant.
- About 81.8% of protein-level genetic signals replicate between European and Arab populations, suggesting broad cross-ethnic consistency in many genetic effects.
- Specific association findings for this variant are not reported in the provided study text and should be considered preliminary.
Key takeaways
- rs116959820 is a genetic variant in the chromosomal region containing TIMP3 (tissue inhibitor of metalloproteinases 3) and SYN3 (synapsin III).
- Large-scale GWAS (genome-wide association study) analyses of UK Biobank data (approximately 405,000 individuals, 13.3 million variants) provide the methodological context in which this and similar variants are studied.
- Cross-population research shows approximately 81.8% of protein-level genetic signals colocalize (meaning the same genetic variant drives the signal in both groups) between European and Arab populations.
- Specific association findings for this variant are not detailed in the provided study text; evidence should be considered preliminary.
What the research says The two provided studies do not report specific findings for rs116959820 in their available text. A UK Biobank GWAS of approximately 405,088 individuals, covering 13.3 million variants across 79 quantitative and 50 binary traits, identified 4.97% and 3.25% more associations than the REGENIE method (and 22.71% and 7.07% more than FastGWA) for quantitative and binary traits respectively, with results replicated in Biobank Japan and FinnGen cohorts. A proteomics study (systematic measurement of protein levels in blood) of 1,301 proteins in 2,935 Qatar Biobank participants found that 81.8% of shared pQTL (protein quantitative trait locus - a genetic variant associated with protein levels in blood) signals colocalized between European and Arab populations, with polygenic scores (statistical aggregates of many small genetic effects) derived from European data explaining approximately one-third of genetic protein heritability and performing roughly 20% better in Europeans than Arabs.
Reported associations
- Quantitative trait context: The UK Biobank GWAS (n=405,088) analyzed this and approximately 13.3 million other variants across 79 quantitative traits; the provided text does not list specific associations for this variant at this locus.
- Disease trait context: The same UK Biobank analysis covered 50 binary (disease) traits, identifying 3.25% more associations than REGENIE and 7.07% more than FastGWA across this category, though no variant-specific results for this locus appear in the provided text.
- Protein-level context: A pQTL analysis of 1,301 blood proteins in 2,935 individuals found broad cross-population consistency, with 81.8% of shared signals colocalizing between European and Arab cohorts, though no protein associations specific to this locus are detailed in the provided text.
Evidence quality Neither of the two provided studies reports specific associations, effect sizes, or p-values for rs116959820 in available text. The UK Biobank GWAS (approximately 405,088 individuals, 13.3 million variants) used the Quickdraws method, with performance benchmarks replicated in Biobank Japan and FinnGen. The Qatar Biobank pQTL analysis (2,935 participants, 1,301 proteins via SOMAscan aptamer-based proteomics platform) replicated findings across European and Arab cohorts from the KORA and INTERVAL studies. Without variant-specific results in the provided text, evidence quality for this locus cannot be specifically characterized; any associations should be treated as preliminary pending direct reporting from these or other studies.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs116959820?
rs116959820 is a single nucleotide polymorphism - a single-letter change in the DNA code - located in the chromosomal region containing the TIMP3 and SYN3 genes. It is one of millions of variants analyzed in large-scale genome-wide association studies.
What genes are near rs116959820?
rs116959820 is in the region of TIMP3 (tissue inhibitor of metalloproteinases 3) and SYN3 (synapsin III). Both genes share this chromosomal location.
How large are the studies that cover this variant?
One UK Biobank GWAS included approximately 405,000 individuals and analyzed about 13.3 million genetic variants across 79 quantitative and 50 disease traits. A separate proteomics study measured 1,301 blood proteins in 2,935 participants across European and Arab populations.
Does this variant show consistent effects across different ethnic groups?
Cross-population research shows that about 81.8% of protein-level genetic signals colocalize between European and Arab populations. Polygenic scores based on European data perform roughly 20% better in Europeans than Arabs, suggesting some population-specific differences exist.
Are there known disease associations for this variant?
The provided study materials do not report specific disease associations for rs116959820 in their available text. The broader analyses described cover 50 binary disease traits in UK Biobank data, but variant-specific results are not available from the provided excerpts.