What you carry at this position in your DNA and what research says about it.
Neuroblastoma Risk: 7/10 evidence, 21 publications.
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Sample genotype (not yours): C/C
Typical Neuroblastoma Risk and Baseline Blood Glucose
Standard genetic patterns at this locus are associated with typical baseline risk for neuroblastoma and standard blood sugar levels. Most people carry this combination, which represents the ancestral baseline.
What this genotype means: Typical neuroblastoma risk; Standard baseline blood glucose levels.
Sample genotype (not yours): A/A
Significantly Lower Neuroblastoma Risk and Favorable Blood Glucose
Carrying two copies of the protective variant is linked to the lowest risk of neuroblastoma and highly favorable baseline blood sugar levels. This genotype provides the strongest genetic protection at this locus.
What this genotype means: Lowest genetic risk of neuroblastoma; Favorable baseline blood glucose levels.
Sample genotype (not yours): C/A
Reduced Neuroblastoma Risk and Favorable Blood Glucose
Carrying one copy of the protective variant is associated with lower susceptibility to neuroblastoma and slightly lower baseline blood sugar levels. This profile represents a favorable intermediate state.
What this genotype means: Reduced neuroblastoma risk; Slightly lower baseline blood glucose levels.
Gene function and biological role
Gene Function: The LMO1 gene encodes the LIM domain only 1 protein, a transcriptional coregulator that plays a vital role in cell fate determination and tissue differentiation during development [1]. It is particularly active in the developing nervous system, where it helps coordinate the complex gene expression networks required for normal neural crest cell differentiation [1] [2]. Aberrant expression or dysregulation of LMO1 is strongly linked to oncogenesis, particularly in pediatric cancers of the sympathetic nervous system [2]. It acts as a key scaffold or connector within transcription complexes, cooperating with other oncogenic drivers like MYCN to promote tumor cell survival and proliferation [2].
Variant Impact: The rs2168101 variant is a single nucleotide polymorphism located within a critical super-enhancer region in the first intron of the LMO1 gene [2]. This genetic change alters a highly conserved GATA transcription factor binding motif, transforming it into a TATA sequence [2]. The ancestral C allele maintains this GATA motif, allowing transcription factors like GATA3 to bind efficiently and drive high levels of LMO1 expression [2] [1]. Conversely, the newly evolved A allele disrupts this binding site, which significantly reduces LMO1 expression levels [2]. This regulatory difference directly influences susceptibility to neuroblastoma by altering the core transcriptional circuitry of developing sympathetic nervous system cells [1].
Key Insight: A single letter change in a non-coding super-enhancer of the LMO1 gene can completely alter which core regulatory network is active in developing nerve cells, directly affecting cancer susceptibility. The protective variant of this gene is a relatively recent evolutionary development that is unique to humans.
Location: LMO1. Chromosome 11 · 11p15.4 · 8.2 Mb
Estimated prevalence by population
Global 59.4%; European 48.3%; African 88.8%; East Asian 51.1%; South Asian 55.5%; Americas 49.6%; Ashkenazi 59.6%; Finnish 36.5%; Middle Eastern 68.3%; Amish 36.6%.
Estimated CC genotype frequency.
Global 33.6%; European 42.4%; African 10.9%; East Asian 40.7%; South Asian 38.0%; Americas 41.7%; Ashkenazi 35.2%; Finnish 47.8%; Middle Eastern 28.7%; Amish 47.8%.
Estimated CA genotype frequency.
Global 7.0%; European 9.3%; African 0.3%; East Asian 8.1%; South Asian 6.5%; Americas 8.8%; Ashkenazi 5.2%; Finnish 15.6%; Middle Eastern 3.0%; Amish 15.6%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Brain & Nervous System Cancers
Neuroblastoma. Evidence: 7/10. Source: PMID 26560027. Typical Risk.
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Blood Glucose. Evidence: 9/10. Source: PMID 34059833. Typical.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 9/10. Source: PMID 39024449. Typical.
Nutrition & Metabolism
Blood Chemistry & Metabolites
Blood Albumin Levels. Evidence: 8/10. Source: PMID 34594039. Typical.
Amino Acid Levels. Evidence: 8/10. Source: PMID 38711861. Typical.
Showing effects for A/A genotype
Neuroblastoma. Evidence: 7/10. Source: PMID 26560027. Lowest Risk.
Blood Glucose. Evidence: 9/10. Source: PMID 34059833. Lower.
Height. Evidence: 9/10. Source: PMID 39024449. Shorter.
Blood Albumin Levels. Evidence: 8/10. Source: PMID 34594039. Lower.
Amino Acid Levels. Evidence: 8/10. Source: PMID 38711861. Lower.
Showing effects for C/A genotype
Neuroblastoma. Evidence: 7/10. Source: PMID 26560027. Reduced Risk.
Blood Glucose. Evidence: 9/10. Source: PMID 34059833. Slightly Lower.
Height. Evidence: 9/10. Source: PMID 39024449. Slightly Shorter.
Blood Albumin Levels. Evidence: 8/10. Source: PMID 34594039. Slightly Lower.
Amino Acid Levels. Evidence: 8/10. Source: PMID 38711861. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Carrying two copies of the ancestral C allele is the most common genetic profile globally. This genotype maintains a fully functional GATA transcription factor binding motif within the LMO1 gene's super-enhancer [1]. Consequently, transcription factors bind normally, leading to standard levels of LMO1 expression during early development [1]. This baseline expression is associated with typical, average susceptibility to neuroblastoma, a rare childhood cancer of the sympathetic nervous system [1] [2]. In addition, large-scale genetic association studies link this genotype to slightly higher baseline blood glucose levels compared to carriers of the protective variant [3]. It is also associated with typical height and standard circulating levels of several amino acids [4].
Typical neuroblastoma risk; Standard baseline blood glucose levels.
Sample genotype: AA (Homozygous)
Carrying two copies of the protective A allele completely disrupts the GATA transcription factor binding motifs on both chromosomes [1]. This double disruption prevents GATA3 from binding to the LMO1 super-enhancer, resulting in a dramatic reduction of LMO1 oncogene expression during early development [1] [2]. As a result, this genotype is associated with the lowest susceptibility to neuroblastoma, offering strong genetic protection against this childhood malignancy [1] [2]. Metabolic genome-wide association studies also show that this profile is linked to the lowest baseline blood glucose levels among the three genotypes [3]. Additionally, it is associated with slightly lower circulating levels of amino acids like alanine and glutamine, as well as a minor reduction in average height [4] [5].
Lowest genetic risk of neuroblastoma; Favorable baseline blood glucose levels.
Sample genotype: CA (Heterozygous)
Carrying one copy of the protective A allele disrupts the GATA transcription factor binding motif on one chromosome, converting it to a TATA sequence [1]. This disruption reduces the binding of GATA3, leading to lower overall expression of the LMO1 oncogene during development [1] [2]. Clinical and genetic studies show that this reduction in expression translates to a significantly lower risk of developing neuroblastoma compared to the typical baseline [1] [2]. Furthermore, large-scale metabolic analyses associate this genotype with slightly lower, more favorable fasting blood glucose levels [3]. It is also linked to slightly lower circulating levels of certain amino acids and a minor reduction in average height [4] [5].
Reduced neuroblastoma risk; Slightly lower baseline blood glucose levels.
Variants with shared genetic architecture
rs110419 · LMO1 Gene · Chr 11 · Neuroblastoma Risk
rs4712653 · CASC15 Gene · Chr 6 · Neuroblastoma Risk
rs689 · INS Gene · Chr 11 · Type 1 Diabetes Risk
Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.
The trans-ancestral genomic architecture of glycemic traits.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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