What you carry at this position in your DNA and what research says about it.
Imatinib and Metformin Response: 6/10 evidence, 8 publications.
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Sample genotype (not yours): G/G
Altered Drug Responses
This genotype is linked to a lower response rate to the cancer drug imatinib but may offer a better response to the diabetes drug metformin.
What this genotype means: Lower response rate to imatinib; Higher risk of imatinib eye toxicity; Potentially better response to metformin.
Sample genotype (not yours): C/C
Typical Drug Responses
This genotype is linked to a favorable response to imatinib but may show reduced effectiveness with metformin.
What this genotype means: Favorable response to imatinib; Lower risk of imatinib toxicity; Higher likelihood of inadequate metformin response.
Sample genotype (not yours): G/C
This genotype is associated with a reduced response to imatinib therapy alongside a potentially better response to metformin.
What this genotype means: Moderately lower response to imatinib; Increased risk of imatinib-induced side effects; Typical to favorable metformin response.
Gene function and biological role
Gene Function: The SLC22A1 gene encodes the organic cation transporter 1, commonly known as OCT1 [1]. This transporter is primarily expressed in the liver, where it plays a critical role in the uptake of various foreign compounds and clinically important drugs [1]. It is responsible for transporting widely prescribed medications, including the first-line type 2 diabetes drug metformin and the cancer therapies imatinib and cisplatin [1]. Variations in this gene can significantly alter the transporter's activity, leading to differences in how drugs are cleared from the body and their overall therapeutic effectiveness [1].
Variant Impact: The rs683369 variant is a missense mutation in the SLC22A1 gene that results in an amino acid substitution from leucine to phenylalanine at position 160 of the transporter protein [1]. This structural change directly alters the transport efficiency of the OCT1 protein, affecting the cellular uptake of its substrates [1]. Consequently, individuals carrying different alleles experience distinct rates of drug clearance and varying susceptibility to medication-induced side effects [1]. The variant is highly prevalent globally, with the phenylalanine-encoding C allele being the major allele in most populations [1].
Key Insight: This variant creates a genetic trade-off where the genotype that responds best to the leukemia drug imatinib actually responds worse to the common diabetes drug metformin.
Location: SLC22A1. Chromosome 6 · 6q25.3 · 160.1 Mb
Estimated prevalence by population
Global 2.8%; European 4.9%; African 0.2%; East Asian 2.3%; South Asian 2.4%; Americas 1.5%; Ashkenazi 2.5%; Finnish 2.5%; Middle Eastern 1.0%; Amish 3.9%.
Estimated GG genotype frequency.
Global 24.4%; European 34.5%; African 7.8%; East Asian 25.6%; South Asian 26.2%; Americas 21.5%; Ashkenazi 26.8%; Finnish 26.7%; Middle Eastern 18.3%; Amish 31.7%.
Estimated GC genotype frequency.
Global 72.7%; European 60.6%; African 92.0%; East Asian 72.1%; South Asian 71.4%; Americas 77.0%; Ashkenazi 70.6%; Finnish 70.8%; Middle Eastern 80.6%; Amish 64.4%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Pharmacogenomics
Chemotherapy Response
Imatinib Response. Evidence: 6/10. Source: PMID 29427770. Weaker Response.
Cisplatin Response. Evidence: 5/10. Source: PMID 32285752. Stronger Response.
Diabetes Medication Response
Metformin Response. Evidence: 3/10. Source: PMID 22179738. Stronger Response.
Cardiovascular & Metabolic
Gout & Uric Acid
Gout. Evidence: 3/10. Source: PMID 22179738. Associated.
Nutrition & Metabolism
Blood Chemistry & Metabolites
Propionylcarnitine Levels. Evidence: 5/10. Source: PMID 35888728. Associated.
Showing effects for C/C genotype
Imatinib Response. Evidence: 6/10. Source: PMID 29427770. Stronger Response.
Cisplatin Response. Evidence: 5/10. Source: PMID 32285752. Typical Response.
Metformin Response. Evidence: 3/10. Source: PMID 22179738. Weaker Response.
Showing effects for G/C genotype
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Individuals carrying the G/G genotype typically exhibit reduced activity of the OCT1 transporter [1]. During treatment with the tyrosine kinase inhibitor imatinib, this reduced transport activity can lead to lower drug uptake in target cells, which is associated with a decreased major molecular response rate and lower overall survival [1]. Furthermore, G/G carriers face an increased risk of imatinib-induced toxicities, including ophthalmological side effects such as conjunctival hemorrhage [2]. Conversely, this genotype may correlate with more favorable glycemic control when taking the first-line type 2 diabetes medication metformin [3]. Additionally, some evidence suggests G/G carriers have increased survival rates when undergoing platinum-based chemotherapy like cisplatin [4].
Lower response rate to imatinib; Higher risk of imatinib eye toxicity; Potentially better response to metformin.
Sample genotype: CC (Homozygous)
The C/C genotype is the most common genetic profile globally and represents typical OCT1 transporter function [1]. When treated with imatinib, individuals with this genotype exhibit faster drug clearance and a significantly higher rate of major molecular response compared to G allele carriers [1]. They also enjoy a decreased severity of drug-related toxicities, including a lower risk of conjunctival hemorrhage [2]. However, this efficient transport profile is associated with inadequate glycemic control during metformin therapy, meaning metformin may be less effective at lowering blood sugar levels for these individuals [3]. This genotype also shows typical survival outcomes when treated with cisplatin-based chemotherapy [4].
Favorable response to imatinib; Lower risk of imatinib toxicity; Higher likelihood of inadequate metformin response.
Sample genotype: GC (Heterozygous)
Carrying one copy of the G allele results in intermediate OCT1 transporter activity [1]. Clinical studies show that G/C carriers undergoing imatinib therapy for chronic myeloid leukemia or gastrointestinal stromal tumors have a lower rate of major molecular response compared to those with the C/C genotype [1]. This reduced uptake can also lead to subtherapeutic drug levels, which may increase the risk of developing resistance mutations [2]. G/C carriers also have an elevated risk of experiencing side effects like conjunctival hemorrhage during imatinib treatment [3]. On the positive side, this genotype is less likely to experience the inadequate blood sugar control associated with the C/C genotype during metformin therapy [4].
Moderately lower response to imatinib; Increased risk of imatinib-induced side effects; Typical to favorable metformin response.
Variants with shared genetic architecture
rs12208357 · SLC22A1 Gene · Chr 6 · Cholesterol and Drug Response
rs1564348 · SLC22A1 Gene · Chr 6 · Cholesterol Levels
rs34130495 · SLC22A1 Gene · Chr 6 · Medication Response
Content updated August 2026.
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