rs117133909 (MTCO3P40/RPS6P12): Blood Cell GWAS
Key takeaways
- rs117133909 sits near MTCO3P40 and RPS6P12, two pseudogenes that do not produce proteins but may influence nearby gene regulation.
- This variant has been analyzed in population studies covering over 500,000 participants.
- Blood cell trait genome-wide research provides the primary scientific context for variants in this region.
- No lifestyle factors have been directly linked to this variant in the available research.
Key takeaways
- rs117133909 sits near MTCO3P40 (Mitochondrially Encoded Cytochrome C Oxidase III Pseudogene 40) and RPS6P12 (Ribosomal Protein S6 Pseudogene 12), two pseudogenes that do not produce functional proteins but may influence nearby gene regulation.
- This variant has been analyzed in population studies covering over 500,000 participants.
- Blood cell trait genome-wide research provides the primary scientific context for variants in this region.
- No lifestyle factors have been directly linked to this variant in the available research.
What the research says A 2021 large-scale genome-wide association study (GWAS) of blood cell traits analyzed 29 hematopoietic phenotypes - traits related to blood cell production and composition - in 563,085 European-ancestry participants and identified 5,106 new genetic variant-trait associations covering red blood cell, white blood cell, and platelet measurements. A 2025 study introducing a computational method called Quickdraws applied improved variational inference - a statistical technique for estimating how much each genetic variant contributes to a trait - to approximately 405,088 UK Biobank participants across 79 quantitative and 50 disease traits, identifying 4.97% more quantitative-trait associations and 3.25% more disease-trait associations compared to the widely used REGENIE method.
Reported associations
- Blood cell phenotypes (hematopoietic traits): The 2021 GWAS covered 29 blood cell measurements in 563,085 participants, identifying thousands of new variant-trait associations; noncoding variants in regulatory regions, including those near pseudogene-containing genomic areas, were among those characterized across hematopoietic phenotypes.
- Quantitative traits: The 2025 Quickdraws analysis identified additional associations across 79 quantitative phenotypes in approximately 405,088 UK Biobank participants that prior methods had missed, including 4.97% more associations than REGENIE and 22.71% more than FastGWA.
- Binary and disease traits: The same Quickdraws analysis covered 50 disease phenotypes, finding 3.25% more associations than REGENIE and 7.07% more than FastGWA, with gains replicated in independent cohorts including Biobank Japan and FinnGen.
Evidence quality Both supporting studies involve large, well-characterized populations (405,088 to 563,085 participants) and genome-wide coverage across millions of variants, supporting robust variant detection at a genome-wide scale. The 2021 blood cell GWAS integrated data from the UK Biobank and multiple international collaborative cohorts, making it the largest GWAS of hematopoietic phenotypes at the time of publication. The 2025 Quickdraws analysis validated replicated signals in Biobank Japan and FinnGen, adding cross-ancestry support for the broader findings. However, neither study provides explicit per-variant association statistics for rs117133909 in the available excerpts, and no PMID identifiers were supplied in the study metadata for this entry. Specific confirmed associations and effect sizes for this locus should be considered preliminary until directly reported.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs117133909?
rs117133909 is a genetic variant located near two pseudogenes called MTCO3P40 and RPS6P12. Pseudogenes are gene copies that have lost their protein-coding function but may still play regulatory roles near active genes. This variant has been catalogued in large-scale genome-wide association studies.
What traits is rs117133909 associated with?
This variant sits in a genomic region studied in the context of blood cell trait genetics, which covers measurements such as red blood cell count, white blood cell count, and platelet counts. It has also been examined alongside quantitative and disease traits in large biobank populations.
What are MTCO3P40 and RPS6P12?
MTCO3P40 is a pseudogene with sequence similarity to the mitochondrial gene for cytochrome c oxidase subunit 3, a protein involved in cellular energy production. RPS6P12 is a pseudogene of ribosomal protein S6, which plays a role in protein synthesis. Pseudogenes can sometimes influence the expression of nearby functional genes.
How large were the studies that examined this variant?
The blood cell GWAS involved 563,085 European-ancestry participants from the UK Biobank and international cohorts. A separate UK Biobank analysis using improved statistical methods covered approximately 405,088 participants across 79 quantitative and 50 disease traits.