What you carry at this position in your DNA and what research says about it.
Glioma and Eczema Risk: 8/10 evidence, 38 publications.
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Sample genotype (not yours): A/A
Lower Risk of Glioma and Eczema
Carrying two copies of the protective A allele is associated with a significantly lower risk of developing glioma and atopic dermatitis.
What this genotype means: Reduced risk of developing glioma; Lower susceptibility to atopic dermatitis.
Sample genotype (not yours): A/G
Moderately Increased Risk of Glioma and Eczema
Carrying one copy of the risk G allele is linked to a moderately increased risk of both glioma and atopic dermatitis.
What this genotype means: Moderately increased risk of glioma; Slightly higher susceptibility to eczema.
Sample genotype (not yours): G/G
Higher Risk of Glioma and Eczema
Carrying two copies of the common G allele is associated with the highest risk of developing glioma and atopic dermatitis.
What this genotype means: Increased risk of developing glioma; Higher susceptibility to atopic dermatitis.
Gene function and biological role
Gene Function: The RTEL1 gene encodes the regulator of telomere elongation helicase 1, an essential enzyme that helps maintain genomic stability by managing telomere length [1]. Telomeres act as protective caps at the ends of chromosomes, and their proper regulation is vital to prevent cellular aging and uncontrolled cell division [2]. Research indicates that genetic variations in RTEL1 can alter telomere dynamics, which in turn influences susceptibility to various cancers, particularly brain tumors [3]. Additionally, the genomic region surrounding RTEL1 contains several immune-related genes, suggesting a broader role in inflammatory responses [4].
Variant Impact: The rs6010620 variant is an intronic change located within the RTEL1 gene on chromosome 20. Because it resides in an intron, it does not directly alter the amino acid sequence of the RTEL1 protein, but it is highly correlated with changes in gene expression in this chromosomal region [5]. This genetic marker is situated within a tightly linked block of genes that includes immune regulators like TNFRSF6B and ZGPAT [4]. Consequently, this variant serves as a major genetic tag associated with both the risk of developing glioma and susceptibility to atopic dermatitis [6] [7].
Key Insight: This genetic variant links two seemingly unrelated conditions—brain tumor susceptibility and inflammatory skin disease—due to its location in a genomic region that influences both telomere maintenance and immune regulation.
Location: RTEL1. Chromosome 20 · 20q13.33 · 63.7 Mb
Estimated prevalence by population
Global 5.4%; European 5.2%; African 0.4%; East Asian 50.0%; South Asian 7.5%; Americas 5.5%; Ashkenazi 6.3%; Finnish 4.0%; Middle Eastern 3.7%; Amish 3.5%.
Estimated AA genotype frequency.
Global 29.0%; European 35.1%; African 11.9%; East Asian 41.4%; South Asian 39.8%; Americas 36.0%; Ashkenazi 37.5%; Finnish 32.0%; Middle Eastern 31.0%; Amish 30.3%.
Estimated AG genotype frequency.
Global 65.6%; European 59.7%; African 87.6%; East Asian 8.6%; South Asian 52.8%; Americas 58.5%; Ashkenazi 56.2%; Finnish 64.0%; Middle Eastern 65.3%; Amish 66.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Brain & Nervous System Cancers
Glioma. Evidence: 8/10. Source: PMID 25227808. Lower Risk.
Organ Systems
Skin & Hair Conditions
Eczema. Evidence: 8/10. Source: PMID 21666691. Lower Risk.
Showing effects for A/G genotype
Glioma. Evidence: 8/10. Source: PMID 25227808. ~1.2x Higher Risk.
Eczema. Evidence: 8/10. Source: PMID 21666691. ~1.17x Higher Risk.
Showing effects for G/G genotype
Glioma. Evidence: 8/10. Source: PMID 25227808. ~1.4x Higher Risk.
Eczema. Evidence: 8/10. Source: PMID 21666691. ~1.4x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
This genotype is relatively uncommon globally, particularly outside of East Asian populations where the A allele is more prevalent. Multiple large-scale genetic studies and meta-analyses have confirmed that individuals with the A/A genotype have a significantly reduced susceptibility to glioma, a type of brain tumor [1] [2]. The protective effect is thought to be mediated by optimal telomere length regulation maintained by the RTEL1 gene [3]. Furthermore, this genotype is associated with a lower risk of developing atopic dermatitis, commonly known as eczema [4]. The reduced risk of skin inflammation may relate to the balanced expression of nearby immune-regulatory genes [5]. Overall, this genotype represents the most favorable genetic profile at this locus for both neurological and dermatological health.
Reduced risk of developing glioma; Lower susceptibility to atopic dermatitis.
Sample genotype: AG (Heterozygous)
This heterozygous genotype is common in many populations worldwide. Having one copy of the G allele moderately elevates the risk of developing glioma, with studies estimating a 1.2-fold increase in susceptibility compared to the protective A/A genotype [1] [2]. This increase is linked to altered telomere maintenance pathways influenced by the RTEL1 gene region [3]. Additionally, this genotype is associated with a slightly higher risk of atopic dermatitis, particularly observed in East Asian and European cohorts [4] [5]. The increased risk of eczema is believed to stem from altered expression of neighboring genes involved in skin barrier function and immune responses [4]. While the risk is elevated compared to the protective genotype, it represents an intermediate profile.
Moderately increased risk of glioma; Slightly higher susceptibility to eczema.
Sample genotype: GG (Homozygous)
This genotype is the most common profile globally, carried by the majority of people in most ancestries. Despite being the typical genetic baseline, carrying two copies of the G allele is associated with a 1.4-fold higher risk of developing glioma compared to the protective A/A genotype [1] [2]. This susceptibility is driven by variations in telomere length regulation associated with the RTEL1 gene [3]. Furthermore, individuals with this genotype have a 1.4-fold higher risk of experiencing atopic dermatitis [4]. The increased risk of eczema is linked to the upregulation of inflammatory pathways and altered skin barrier maintenance [5]. Because this is the most common genotype, it represents the standard population baseline rather than an ultra-rare high-risk mutation.
Increased risk of developing glioma; Higher susceptibility to atopic dermatitis.
Variants with shared genetic architecture
rs2297440 · RTEL1 Gene · Chr 20 · Brain Tumor Risk
rs55705857 · CCDC26 Gene · Chr 8 · Brain Tumor Risk
rs2157719 · CDKN2B-AS1 Gene · Chr 9 · Glaucoma and Brain Tumor Risk
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
The RTEL1 rs6010620 polymorphism and glioma risk: a meta-analysis based on 12 case-control studies.
Content updated August 2026.
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