What you carry at this position in your DNA and what research says about it.
Crohn's Disease Risk: 4/10 evidence, 23 publications.
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Sample genotype (not yours): A/A
Typical Crohn's Risk and Slightly Shorter Stature
Carrying two copies of the A allele is associated with a baseline risk of Crohn's disease. It is also linked to a slightly shorter adult height compared to those with the G allele.
What this genotype means: Typical baseline risk of Crohn's disease; Slightly shorter average adult height; Typical prostate-specific antigen levels.
Sample genotype (not yours): A/G
Slightly Increased Crohn's Risk and Typical Stature
Carrying one copy of the G allele is associated with a minor increase in the risk of Crohn's disease. It also correlates with a typical average adult height and standard metabolic markers.
What this genotype means: Slightly elevated risk of Crohn's disease; Average adult height; Slightly higher baseline PSA levels.
Sample genotype (not yours): G/G
Increased Crohn's Risk and Slightly Taller Stature
Carrying two copies of the G allele is linked to a higher risk of Crohn's disease. It also correlates with a slightly taller adult height and higher metabolic rate.
What this genotype means: Increased risk of Crohn's disease; Slightly taller average adult height; Higher baseline prostate-specific antigen levels.
Gene function and biological role
Gene Function: The ZBTB38 gene encodes a zinc finger transcriptional regulator that binds to methylated DNA to control the expression of downstream target genes. It plays a critical role in cell proliferation, replication, and apoptosis. Genetic variation in this gene has been consistently linked to human growth and adult height across diverse global populations [1]. Additionally, ZBTB38 is involved in immune system regulation and inflammatory pathways, making it a key locus of interest in autoimmune conditions [2].
Variant Impact: The rs724016 variant is located in the 5 prime untranslated region of the ZBTB38 gene, where it is positioned to influence gene transcription and protein translation efficiency. This specific genetic change alters the regulatory control of ZBTB38, affecting how the transcription factor modulates downstream cellular pathways. Large-scale genome-wide association studies have identified this variant as a major genetic determinant of adult height [3]. It is also associated with altered susceptibility to inflammatory bowel diseases and variations in metabolic markers [2].
Key Insight: This single genetic variant acts as a pleiotropic bridge, simultaneously influencing physical stature, metabolic rate, and the risk of developing chronic inflammatory bowel conditions.
Location: ZBTB38. Chromosome 3 · 3q23 · 141.4 Mb
Estimated prevalence by population
Global 25.9%; European 31.6%; African 6.0%; East Asian 45.6%; South Asian 50.3%; Americas 31.9%; Ashkenazi 36.3%; Finnish 31.2%; Middle Eastern 42.2%; Amish 47.6%.
Estimated AA genotype frequency.
Global 45.4%; European 49.2%; African 37.1%; East Asian 43.8%; South Asian 41.3%; Americas 49.2%; Ashkenazi 47.9%; Finnish 49.3%; Middle Eastern 45.5%; Amish 42.8%.
Estimated AG genotype frequency.
Global 28.7%; European 19.1%; African 56.9%; East Asian 10.5%; South Asian 8.5%; Americas 18.9%; Ashkenazi 15.8%; Finnish 19.5%; Middle Eastern 12.3%; Amish 9.6%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Immunity & Inflammation
Chronic Inflammatory Diseases
Crohn's Disease. Evidence: 4/10. Source: PMID 26192919. Typical Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 10/10. Source: PMID 18193045. Slightly Shorter.
Cancer & Oncology
Prostate Cancer
PSA Levels. Evidence: 9/10. Source: PMID 39024449. Typical Levels.
Cardiovascular & Metabolic
Obesity & Body Composition
Body Weight. Evidence: 10/10. Source: PMID 34594039. Typical Weight.
Vascular Health & Aneurysm
Aortic Aneurysm. Evidence: 6/10. Source: PMID 37845353. Unresolved.
Nutrition & Metabolism
Macronutrient Metabolism
Basal Metabolic Rate. Evidence: 8/10. Source: PMID 39789286. Typical BMR.
Showing effects for A/G genotype
Crohn's Disease. Evidence: 4/10. Source: PMID 26192919. Slightly Increased.
Height. Evidence: 10/10. Source: PMID 18193045. Typical.
PSA Levels. Evidence: 9/10. Source: PMID 39024449. Slightly Higher.
Body Weight. Evidence: 10/10. Source: PMID 34594039. Slightly Higher.
Basal Metabolic Rate. Evidence: 8/10. Source: PMID 39789286. Slightly Higher.
Showing effects for G/G genotype
Crohn's Disease. Evidence: 4/10. Source: PMID 26192919. ~1.12x Increased Risk.
Height. Evidence: 10/10. Source: PMID 18193045. Slightly Taller.
PSA Levels. Evidence: 9/10. Source: PMID 39024449. Higher.
Body Weight. Evidence: 10/10. Source: PMID 34594039. Higher.
Basal Metabolic Rate. Evidence: 8/10. Source: PMID 39789286. Higher.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Inheriting the A/A genotype means lacking the G allele, which has been associated with increased inflammatory susceptibility. Large-scale genetic studies show that this genotype correlates with a typical baseline risk for Crohn's disease and other inflammatory bowel conditions [1]. In terms of physical development, this genotype is linked to a slightly shorter adult height, with studies indicating a reduction of about 0.74 centimeters compared to the G/G genotype [2]. Research in pediatric cohorts suggests that the A allele may influence early growth patterns and response to growth factors [3]. Additionally, this genotype is associated with typical prostate-specific antigen levels and a standard basal metabolic rate [4].
Typical baseline risk of Crohn's disease; Slightly shorter average adult height; Typical prostate-specific antigen levels.
Sample genotype: AG (Heterozygous)
Possessing a single G allele introduces a modest increase in the risk of developing Crohn's disease due to its role in inflammatory pathways [1]. This heterozygous genotype represents an intermediate state for several physical and metabolic traits. Adult height is typically average, as the single G allele provides a minor height-increasing effect of approximately 0.37 centimeters [2]. Prostate-specific antigen levels and body weight may also be slightly elevated compared to the A/A genotype, though generally remaining within normal ranges [3]. Clinical studies suggest that while the risk increase for inflammatory bowel disease is small, maintaining a gut-healthy lifestyle is beneficial [1].
Slightly elevated risk of Crohn's disease; Average adult height; Slightly higher baseline PSA levels.
Sample genotype: GG (Homozygous)
Having the G/G genotype is associated with a roughly 12 percent increase in the odds of developing Crohn's disease, driven by the variant's impact on systemic inflammatory regulation [1]. On the physical side, this genotype is strongly linked to increased stature, adding an average of 0.74 centimeters to adult height compared to the A/A genotype [2]. It is also associated with higher body weight, increased lean mass, and a slightly elevated basal metabolic rate [3]. Furthermore, men with this genotype tend to exhibit higher baseline levels of prostate-specific antigen, which is an important biomarker to consider during routine health screenings [4].
Increased risk of Crohn's disease; Slightly taller average adult height; Higher baseline prostate-specific antigen levels.
Variants with shared genetic architecture
rs6763931 · ZBTB38 Gene · Chr 3 · Adult Height
rs6440003 · ZBTB38 Gene · Chr 3 · Height and Kidney Function
rs10761659 · ZNF365 Gene · Chr 10 · Crohn's Disease Risk
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
A scalable variational inference approach for increased mixed-model association power.
Content updated August 2026.
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