Expressive

rs12200363 (SLC22A1/SLC22A2): Biomarker GWAS Variant

Key takeaways

  • rs12200363 is in the SLC22A1-SLC22A2 gene region, flagged in a UK Biobank study of 35 blood and urine tests across more than 363,000 people.
  • The ALT allele at this position is linked to higher IGF2R gene expression in skeletal muscle tissue.
  • The source GWAS used strict significance thresholds and validated findings in an independent cohort of 135,500 people.
  • No lifestyle or drug-response associations are currently documented for this specific variant.

Key takeaways

  • rs12200363 is in the SLC22A1-SLC22A2 gene region, flagged in a UK Biobank study of 35 blood and urine tests across more than 363,000 people.
  • The ALT allele at this position is linked to higher IGF2R gene expression in skeletal muscle tissue.
  • The source GWAS used strict significance thresholds and validated findings in an independent cohort of 135,500 people.
  • No lifestyle or drug-response associations are currently documented for this specific variant.

What the research says rs12200363 is located in the SLC22A1-SLC22A2 gene region and was identified in a genome-wide association study (GWAS, a large scan that tests thousands of genetic positions simultaneously) of 35 blood and urine biomarkers in the UK Biobank cohort (n=363,228), which detected 1,857 loci significantly associated with at least one measured biomarker PMID 33462484. Expression quantitative trait locus (eQTL, meaning a variant statistically linked to gene activity levels in a tissue) data from the GTEx project (v11, 953 donors) show that the ALT allele at this locus is associated with increased IGF2R expression in skeletal muscle (slope +0.29, p=1.4e-5) GTEx Portal. The same biomarker GWAS built polygenic risk scores for each biomarker and demonstrated improved genetic risk stratification for chronic kidney disease, type 2 diabetes, gout, and alcoholic cirrhosis in an independent FinnGen validation cohort (n=135,500) PMID 33462484.

Reported associations

  • Blood and urine biomarkers (broad): rs12200363 falls within one of 1,857 loci identified in a GWAS of 35 clinical laboratory measurements; the specific biomarker or biomarkers driving the association at this locus are not enumerated in the available study text PMID 33462484.
  • IGF2R expression in skeletal muscle: The ALT allele is associated with increased IGF2R gene expression in skeletal muscle tissue (slope +0.29, p=1.4e-5) GTEx Portal.

Evidence quality The primary GWAS evidence comes from a large, well-powered cohort (n=363,228 UK Biobank participants) applying Bonferroni-corrected significance thresholds (a strict statistical method that corrects for many simultaneous tests; threshold p < 5e-9 for imputed variants), with partial validation in an independent FinnGen cohort (n=135,500) PMID 33462484. The GTEx eQTL evidence is drawn from 953 donors and meets a false discovery rate (FDR, the expected proportion of false-positive results among all declared positives) threshold of less than 0.05. Because the available study text does not specify which of the 35 biomarkers is most strongly associated with this locus, trait-specific effect sizes and replication status for rs12200363 cannot be evaluated from the provided material. The eQTL association in skeletal muscle is a mechanistic observation and does not by itself establish a causal link to any clinical outcome.

Tissue-specific expression effects

  • IGF2R: The ALT allele is associated with increased expression in skeletal muscle tissue GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Lp(a)-driven cardiovascular risk and management strategy Moderate

    Elevated Lp(a) confers independent cardiovascular risk; specialized assessment and management approaches may modify overall risk.

    Discuss Lp(a) level and cardiovascular risk stratification with cardiologist

Screening

  • Lipoprotein (a) level assessment Moderate

    This SNP strongly associates with elevated Lp(a), a genetically determined cardiovascular risk factor largely independent of lifestyle.

    Measure baseline Lp(a) level; monitor per cardiologist recommendation if elevated

Frequently asked questions

What is rs12200363?

rs12200363 is a genetic variant located in the SLC22A1-SLC22A2 gene region. It was identified in a large genome-wide study of 35 blood and urine biomarkers measured in over 363,000 UK Biobank participants.

What does rs12200363 affect?

Based on available data, the ALT allele at rs12200363 is associated with increased expression of the IGF2R gene in skeletal muscle tissue. The variant also appears in a study of 35 clinical biomarkers, though the specific biomarker associations for this locus are not detailed in the available study text.

What are SLC22A1 and SLC22A2?

SLC22A1 and SLC22A2 are the two genes flanking the rs12200363 variant. This locus was evaluated in a large UK Biobank genetic study examining 35 blood and urine laboratory measurements.

Is rs12200363 linked to any disease?

The primary evidence links this locus to variation in clinical biomarkers rather than a specific disease directly. The broader study identified relationships between biomarkers and conditions including chronic kidney disease, type 2 diabetes, gout, and alcoholic cirrhosis, but trait-specific effect data for this exact variant are not detailed in the available study text.

What does the GTEx eQTL finding mean for rs12200363?

GTEx data show that the ALT allele at rs12200363 is statistically linked to higher IGF2R gene expression in skeletal muscle. This is a mechanistic finding about gene activity levels in a specific tissue, not a direct prediction of clinical outcomes.