rs11121242 (RERE): Blood Trait GWAS Variant
Key takeaways
- rs11121242 is located at the RERE gene locus, analyzed in two large GWAS studies covering blood traits and over 2000 complex phenotypes.
- One source study enrolled 635,969 Veterans including 29% from non-European backgrounds, one of the most ancestrally diverse genetic studies published.
- A blood cell GWAS in 563,085 participants identified 5,106 new loci linked to 29 hematopoietic phenotypes, providing context for this variant's associations.
- Fine-mapping across both studies identified thousands of high-confidence causal signals, helping narrow down which specific variants at each locus are most likely driving observed associations.
Key takeaways
- rs11121242 is a genetic variant at the RERE gene locus, analyzed in two large-scale genome-wide association studies (GWAS) covering blood cell traits and a broad range of over 2000 complex phenotypes.
- A blood cell GWAS enrolling 563,085 participants identified 5,106 new variants linked to 29 hematopoietic (blood-forming) phenotypes, providing a key study context for this locus.
- A multi-population GWAS of 635,969 Veterans, with 29% from non-European backgrounds, identified 26,049 variant-trait associations and found 3,477 that were significant only after non-European participants were included.
- Fine-mapping methods in both source studies help prioritize likely causal variants; the MVP study narrowed 57,601 signals down to 15,045 mapped with high confidence to a single variant.
What the research says rs11121242 maps to the RERE gene locus and has been examined in two major GWAS efforts. A blood cell phenotype study of 563,085 European-ancestry participants characterized the genetic architecture of 29 hematopoietic traits, identifying 5,106 new associated genetic variants through integrative fine-mapping. A multi-population GWAS from the Department of Veterans Affairs Million Veteran Program (MVP) enrolled 635,969 Veterans across four genetic ancestry groups and identified 26,049 variant-trait associations across 1,270 traits, with 3,477 of those associations detectable only after non-European participants were included.
Reported associations
- Blood cell and hematopoietic phenotypes: The RERE locus was analyzed in a blood cell GWAS of 563,085 participants characterizing 29 phenotypes - spanning red blood cell parameters, white blood cell counts and subtypes, and platelet traits - using fine-mapping to assign variants to likely effector genes.
- Broad multi-trait landscape across diverse populations: A 635,969-participant GWAS spanning 2,068 phenotypes across four population groups (genetically similar to African, Admixed American, East Asian, and European reference populations) analyzed this locus as part of a comprehensive variant-trait atlas including disease, laboratory, and physiological measures.
Evidence quality Both source studies are large-scale and methodologically rigorous. The blood cell GWAS enrolled 563,085 European-ancestry participants and used fine-mapping alongside epigenomic and transcriptomic data from hematopoietic cell types to identify likely causal variants and assign them to relevant genes. The MVP multi-trait GWAS enrolled 635,969 Veterans and performed statistical fine-mapping across 936 traits, identifying 57,601 independent signals, of which 15,045 were mapped to a single high-confidence variant. The authors note that most differences in genetic architecture across populations reflect allele frequency differences rather than effect size differences, suggesting that associations identified in one population are broadly applicable. Including 29% non-European participants enabled discovery of 3,477 associations - and 2,069 high-confidence fine-mapped signals - that were not detectable in European-only analyses. Specific p-values and per-variant effect sizes for rs11121242 individually are not reported in the provided study excerpts; all statistics above describe study-level findings.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is the RERE gene?
RERE is the gene at the chromosomal locus where rs11121242 is located. Variants in this region have been studied in large-scale genetic analyses covering blood cell traits and a broad range of complex phenotypes.
What traits is rs11121242 associated with?
rs11121242 has been examined in studies covering 29 blood cell phenotypes (including red blood cell, white blood cell, and platelet traits) and 2,068 complex traits in diverse populations. Specific association results for this variant are catalogued in the full results of those large-scale studies.
How large were the studies examining rs11121242?
The two primary source studies enrolled 563,085 participants focused on blood cell phenotypes and 635,969 participants covering 2,068 complex traits across four ancestral groups, placing them among the largest genetic studies published.
Does including diverse populations change what is found at the RERE locus?
The MVP study found that including non-European participants revealed 3,477 variant-trait associations that were not statistically significant in European-only analyses. This illustrates how ancestrally diverse study designs can uncover genetic signals that would otherwise be missed.
What is fine-mapping and why does it matter for rs11121242?
Fine-mapping is a statistical method that uses patterns of genetic inheritance to narrow down which specific variant in a region is most likely to be causally driving an association, rather than just being correlated with a nearby causal variant. The source studies used fine-mapping to produce high-confidence causal variant lists across thousands of loci, helping distinguish rs11121242 from neighboring variants with correlated signals.