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rs11706052 (IMPDH2)

What you carry at this position in your DNA and what research says about it.

Kidney and Cognitive Health: 6/10 evidence, 12 publications.

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Sample genotype (not yours): A/A

Typical Cognitive and Kidney Function

This genotype is associated with standard baseline cognitive performance and typical kidney filtration rates. It also indicates a standard, predictable response to common immunosuppressant medications.

What this genotype means: Standard kidney filtration rates; Typical cognitive performance; Predictable response to immunosuppressants.

Sample genotype (not yours): A/G

Slightly Higher Cognitive and Kidney Function

This genotype is linked to slightly improved kidney filtration and higher cognitive scores, alongside a minor increase in blood sugar markers. It also alters how the body responds to certain immunosuppressive drugs.

What this genotype means: Slightly improved kidney filtration; Slightly higher cognitive scores; Altered response to transplant medications.

Sample genotype (not yours): G/G

Higher Cognitive and Kidney Function

This genotype is associated with improved kidney filtration and higher cognitive performance, but also higher blood sugar markers. It significantly impacts the effectiveness of specific immunosuppressive medications.

What this genotype means: Improved kidney filtration rates; Higher cognitive performance scores; Altered response to transplant medications.

About IMPDH2

Gene function and biological role

Gene Function: The IMPDH2 gene encodes inosine monophosphate dehydrogenase 2, a rate-limiting enzyme essential for the de novo synthesis of guanine nucleotides [1]. This biochemical pathway is highly active in proliferating cells, particularly activated T and B lymphocytes that drive immune responses [2]. Because of its central role in immune cell expansion, this enzyme is the primary target of immunosuppressive therapies used to prevent organ transplant rejection [3]. Beyond its immunological role, the enzyme is expressed in various tissues and contributes to general cellular metabolism and physiological maintenance [1].

Variant Impact: The rs11706052 variant is an intronic change located within the IMPDH2 gene. This genetic variation is associated with increased baseline activity of the IMPDH2 enzyme [1]. Elevated enzyme levels can reduce the effectiveness of immunosuppressive medications like mycophenolic acid, which work by inhibiting this specific enzyme [4]. Consequently, immune cells may continue to proliferate even in the presence of therapeutic drug levels [2]. In addition to its pharmacological impact, this variant is linked to subtle variations in systemic biomarkers, including kidney filtration rates and cognitive performance [5] [6].

Key Insight: The same genetic variant that enhances cognitive performance and kidney filtration also makes certain critical transplant medications less effective.

Location: IMPDH2. Chromosome 3 · 3p21.31 · 49.0 Mb

Genotype Frequencies

Estimated prevalence by population

Global 85.6%; European 80.2%; African 95.6%; East Asian 92.5%; South Asian 88.2%; Americas 86.4%; Ashkenazi 76.9%; Finnish 78.5%; Middle Eastern 80.6%; Amish 83.4%.

Estimated AA genotype frequency.

Global 13.7%; European 18.7%; African 4.3%; East Asian 7.3%; South Asian 11.4%; Americas 13.1%; Ashkenazi 21.6%; Finnish 20.2%; Middle Eastern 18.3%; Amish 15.8%.

Estimated AG genotype frequency.

Global 0.7%; European 1.1%; African < 0.1%; East Asian 0.1%; South Asian 0.4%; Americas 0.5%; Ashkenazi 1.5%; Finnish 1.3%; Middle Eastern 1.0%; Amish 0.7%.

Estimated GG genotype frequency.

Associated Traits

Showing effects for A/A genotype

Organ Systems

Kidney Function & Disease

Kidney Function. Evidence: 6/10. Source: PMID 33462484. Typical.

Neurology & Mental Health

Cognitive Performance

Cognitive Function. Evidence: 6/10. Source: PMID 40374629. Typical.

Cardiovascular & Metabolic

Diabetes & Glycemic Traits

Blood Glucose. Evidence: 6/10. Source: PMID 33462484. Typical.

Pharmacogenomics

Immunosuppressant & Biologic Response

Mycophenolate Response. Evidence: 5/10. Source: PMID 18444945. Typical Response.

Azathioprine Response. Evidence: 5/10. Source: PMID 26332308. Typical Response.

Showing effects for A/G genotype

Kidney Function. Evidence: 6/10. Source: PMID 33462484. Slightly Improved.

Cognitive Function. Evidence: 6/10. Source: PMID 40374629. Slightly Higher.

Blood Glucose. Evidence: 6/10. Source: PMID 33462484. Slightly Higher.

Mycophenolate Response. Evidence: 5/10. Source: PMID 18444945. Higher Rejection Risk.

Azathioprine Response. Evidence: 5/10. Source: PMID 26332308. Higher Toxicity Risk.

Showing effects for G/G genotype

Kidney Function. Evidence: 6/10. Source: PMID 33462484. Improved.

Cognitive Function. Evidence: 6/10. Source: PMID 40374629. Higher.

Blood Glucose. Evidence: 6/10. Source: PMID 33462484. Higher.

What AA Genotype Means

What this genotype means for the people who carry it

Sample genotype: AA (Homozygous)

Baseline physiological markers for kidney health and cognitive performance are typical for this genotype. Large-scale genomic data from the UK Biobank links this genotype to standard creatinine levels and a typical estimated glomerular filtration rate [1]. Cognitive performance scores align with the population average [2]. From a pharmacological perspective, individuals with this genotype show a standard response to immunosuppressive therapies like mycophenolate mofetil and cyclosporine [3] [4]. Because the enzyme activity remains at baseline, these medications can effectively suppress lymphocyte proliferation to prevent transplant rejection [5]. There is no elevated risk of drug-induced toxicities or unexpected organ rejection associated with this specific genetic marker [3] [4].

Standard kidney filtration rates; Typical cognitive performance; Predictable response to immunosuppressants.

What AG Genotype Means

Sample genotype: AG (Heterozygous)

Slightly enhanced kidney filtration and cognitive performance are characteristic of this genotype. Analysis of blood and urine biomarkers indicates a minor increase in the estimated glomerular filtration rate and lower creatinine levels [1]. Cognitive assessments also show a slight positive shift compared to the baseline population [2]. However, there is a small associated increase in HbA1c levels, suggesting a minor influence on long-term blood sugar regulation [1]. In a transplant scenario, this genotype is associated with a higher risk of acute organ rejection when taking mycophenolate mofetil or cyclosporine [3] [4]. This occurs because the genetic variation increases enzyme activity, making it harder for these drugs to fully suppress immune cell proliferation [5].

Slightly improved kidney filtration; Slightly higher cognitive scores; Altered response to transplant medications.

What GG Genotype Means

Sample genotype: GG (Homozygous)

Enhanced kidney filtration and superior cognitive performance are strongly associated with this genotype. Large-scale cohort data links this genetic profile to a higher estimated glomerular filtration rate and lower serum creatinine levels [1]. Cognitive function scores are also notably higher than the population average [2]. On the other hand, this genotype is associated with elevated HbA1c levels, which indicates a slight increase in long-term blood sugar markers [1]. In clinical pharmacology, this genotype presents a distinct challenge during organ transplantation. The increased activity of the IMPDH2 enzyme reduces the ability of mycophenolate mofetil and cyclosporine to suppress immune responses, leading to an increased risk of graft rejection [3] [4]. Additionally, there is an increased likelihood of experiencing low lymphocyte counts when treated with azathioprine [5].

Improved kidney filtration rates; Higher cognitive performance scores; Altered response to transplant medications.

Related Variants

Variants with shared genetic architecture

rs10224210 · PRKAG2 Gene · Chr 7 · Kidney Health and Gout

rs1047891 · CPS1 Gene · Chr 2 · Urea Cycle and Kidney Health

rs12509595 · FGF5 Gene · Chr 4 · Blood Pressure Risk

Sources

Interpatient variability in IMPDH activity in MMF-treated renal transplant patients is correlated with IMPDH type II 3757T &gt; C polymorphism.

Lymphocyte counts in kidney allograft recipients are associated with IMPDH2 3757T&gt;C gene polymorphism.

Polymorphisms in IMPDH2, UGT2B7, and CES2 genes influence the risk of graft rejection in kidney transplant recipients taking mycophenolate mofetil.

An inosine 5'-monophosphate dehydrogenase 2 single-nucleotide polymorphism impairs the effect of mycophenolic acid.

Genetics of 35 blood and urine biomarkers in the UK Biobank.

Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.

Association of four DNA polymorphisms with acute rejection after kidney transplantation.

Impact of Genetic Polymorphisms on 6-Thioguanine Nucleotide Levels and Toxicity in Pediatric Patients with IBD Treated with Azathioprine.

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Content updated August 2026.

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