rs12185071 (ALDH1A2): Metabolite GWAS Variant
Key takeaways
- rs12185071 in the ALDH1A2 region was identified in a GWAS of 722 blood metabolites in 8,809 Europeans.
- The study used a strict significance cutoff of p < 6.92 x 10^-11, adjusted for the number of metabolites tested.
- This variant is among 74 novel loci not previously reported in the GWAS Catalog.
- A replication cohort of 1,768 independent Europeans confirmed a subset of study findings.
- Specific effect size and metabolite data for this variant are not described in the available study excerpt.
Key takeaways
- rs12185071 in the ALDH1A2 region was identified in a GWAS of 722 blood metabolites in 8,809 Europeans.
- The study used a strict significance cutoff of p < 6.92 x 10^-11, adjusted for the number of metabolites tested.
- This variant is among 74 novel loci not previously reported in the GWAS Catalog.
- A replication cohort of 1,768 independent Europeans confirmed a subset of study findings.
- Specific effect size and metabolite data for this variant are not described in the available study excerpt.
What the research says A metabolome-wide GWAS by Hysi PG et al. (Metabolites, 2025) analyzed over 10 million HRC-imputed genetic markers against 722 plasma metabolite levels in 8,809 European participants, identifying 202 unique genomic regions linked to 478 metabolite levels at a significance threshold of p < 6.92 x 10^-11 (the conventional GWAS threshold of p < 5 x 10^-8 adjusted for 722 simultaneous tests). rs12185071 in the ALDH1A2 region is among the resulting associations, which included 74 regions not previously catalogued in the GWAS Catalog. A subset of 208 metabolite associations was replicated in an independent cohort of 1,768 European participants, supporting the robustness of the broader discovery set.
Reported associations
- Circulating plasma metabolite levels: rs12185071 in the ALDH1A2 locus is among 202 genomic regions linked to metabolite levels in 8,809 European participants (Hysi PG et al., Metabolites, 2025); the specific metabolite(s) associated with this variant are not detailed in the available excerpt of the source study.
Evidence quality The association for rs12185071 comes from a single large study (Hysi PG et al., Metabolites, 2025) that used a conservative significance threshold of p < 6.92 x 10^-11 adjusted for 722 metabolite tests. The discovery sample of 8,809 European participants was analyzed with adjustments for age, sex, and BMI, and genomic control factors were reported as low, indicating minimal population stratification. Replication was conducted for 208 metabolites in 1,768 independent European participants. The specific p-value, effect size, and associated metabolite for rs12185071 are not available in the provided text excerpt, so independent replication for this particular variant cannot be assessed from available data. No conflicting findings are present in the available evidence base.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs12185071?
rs12185071 is a genetic variant in the ALDH1A2 gene region identified in a large metabolomics genome-wide association study. It is one of 202 genomic regions linked to circulating blood metabolite levels in European participants.
What metabolite is rs12185071 associated with?
rs12185071 was identified in a study linking genetic variants to 722 circulating plasma metabolite levels. The specific metabolite or metabolites associated with this variant are not described in the available study excerpt.
Is rs12185071 a newly discovered genetic association?
It is among 74 genomic regions reported as novel in a 2025 metabolomics GWAS, meaning this locus had not previously appeared in the GWAS Catalog for metabolite associations at the time of publication.
How large was the study that identified rs12185071?
The discovery cohort included 8,809 European participants. A separate replication cohort of 1,768 European participants was used to confirm a subset of the study metabolite associations.