rs11033115 (SLC1A2): Cross-population GWAS variant

Key takeaways

• rs11033115 is in the SLC1A2 gene region and was examined within genome-wide association studies (GWAS) covering up to 220 phenotypes.
• The largest contributing analysis included approximately 628,000 participants across BioBank Japan, UK Biobank, and FinnGen.
• Both studies specifically aimed to improve East Asian representation in global genetic research.
• One study replicated 1,219 of 1,396 previously reported risk alleles, demonstrating strong methodological rigor.
• Specific trait associations for rs11033115 are not described by name in the available study text excerpts.

What the research says Two large-scale GWAS efforts examined genetic variation across this locus. One analyzed 220 phenotypes in BioBank Japan (approximately 179,000 participants), with meta-analyses extending to approximately 628,000 participants across BioBank Japan, UK Biobank, and FinnGen combined, identifying roughly 5,000 new loci overall PMID 34385711. A second study examined 42 diseases in 212,453 Japanese individuals, detecting 320 independent signals across 276 loci including 25 novel loci at P less than 9.58 x 10^-9, and replicated 1,219 of 1,396 previously reported risk alleles (sign test P approximately 1.47 x 10^-191) PMID 32514122.

Reported associations

• Phenotypic scope: The studies that examined this locus covered 220 phenotypes including diseases, biomarkers, and medication usage PMID 34385711, and separately, 42 diseases across more than 212,000 Japanese individuals PMID 32514122. Trait-specific results for rs11033115 by name are not present in the available text excerpts from either study.

Evidence quality Both studies were large-scale and methodologically rigorous. One covered approximately 628,000 participants across BioBank Japan, UK Biobank, and FinnGen, representing East Asian and European ancestries PMID 34385711. The other applied linkage disequilibrium score regression (a statistical method that separates true genetic signal from confounding bias) to validate that observed inflated test statistics reflected genuine polygenic effects, used a stringent significance threshold of P less than 9.58 x 10^-9, and replicated 1,219 of 1,396 previously reported risk alleles (sign test P approximately 1.47 x 10^-191) PMID 32514122. Because neither study names rs11033115 individually in the provided text, effect sizes, p-values, and replication status specific to this variant cannot be assessed from the current evidence base.

Lifestyle considerations No lifestyle considerations on file for this variant.