{{Rsnum
|rsid=6010620
|Gene=RTEL1
|Chromosome=20
|position=63678486
|Orientation=plus
|GMAF=0.314
|Gene_s=PLEKHJ1,RTEL1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}'''rs6010620''' is a SNP associated with atopic dermatitis (AD).  Also known as eczema, AD is one of the most common chronic inflammatory skin disorders with a prevalence estimated up to 20% in children and 3% in adults {{PMID|18385500}}.  It is a complex and highly heterogeneous disease that likely involves various genetic factors.  The SNP rs6010620 locates on chromosome 20q13.33, at which there are eight genes — ''PRIC285'', ''STMN3'', ''RTEL1'', ''TNFRSF6B'', ''ARFRP1'', ''ZGPAT'', and ''LIME1'' —, within a single 200-kb LD block around rs6010620.  Among them, ''TNFRSF6B'' and ''ZGPAT'' might be the susceptibility candidates whose expressions correlate with the SNP as suggested by expression quantitative trait loci (eQTL) analysis {{PMID|21666691}}.  

rs6010620’s association with AD was first identified in a genome-wide association study (GWAS) published in 2011, involving 491,905 autosomal SNPs in 1,012 cases and 1,362 controls from southern China followed by two replication studies — one with an additional 3,624 cases and 12,197 controls of Chinese Han ethnicity, the other had 1,806 cases and 3,256 controls from Germany {{PMID|21666691}}.  rs6010620 showed evidence for AD association in both the combined Chinese population (minor/risk allele G; ''P'' = 3.00 × 10-8; OR = 1.17) and in the German cohort (minor allele A; risk allele G; ''P'' = 2.87 × 10-5; OR = 0.80).

The association was subsequently validated in a two-stage GWAS meta-analysis carried out later (''P'' = 0.002; OR = 1.09; 95% CI 1.03–1.15) {{PMID|22197932|OA=1
}}.  This GWAS involved 5,606 cases and 20,565 controls from 16 population-based cohorts of European descent in the discovery meta-analysis, and the ten most strongly associated new susceptibility loci were then examined in the replication meta-analysis encompassing an additional 5,419 affected individuals and 19,833 controls from 14 studies.

The group which published the first GWAS in 2011 recently validated the association as well with 4,538 cases and 13,412 controls from multiple cities in the central and northern parts of China (''P''GG = 1.83 × 10-7; OR = 1.40; 95% CI 1.23–1.58) {{PMID|23838578}}.  rs6010620’s association with subphenotypes of AD was examined in this study, and the SNP showed significant protective effect for sporadic AD (''P''genotype = 0.01; ''P''Bonferroni = 0.006; OR = 0.60; 95% CI 0.43–0.83).  

Tumor necrosis factor receptor superfamily member 6B (TNFRSF6B) is an immune receptor that plays a regulatory role in suppressing cell death {{PMID|14499341}}.  It has been shown that mRNA expression of serum TNFRSF6B in AD patients are higher than those in healthy individuals and control subjects with non-atopic inflammatory diseases {{PMID|15282937}}.  ''ZGPAT'', on the other hand, encodes the zinc finger CCCH-type with G patch domain-containing protein (ZIP) that transcriptionally represses several singling cascades including the epidermal growth factor receptor (EGFR) pathway {{PMID|19644445|OA=1
}}.  EGFR is overexpressed in skin lesions of AD patients and inhibition of its signaling induces dysregulated chemokine profiles that augment skin inflammation {{PMID|12819035|OA=1
}}.  Taken together, these results indicate that ''TNFRSF6B'' and ''ZGPAT'' are indeed plausible causal genes for AD, while further fine mapping and functional studies are still needed before an unequivocal conclusion can be made on the exact susceptibility genes at 20q13.33 {{PMID|21666691}}.

----

{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 3.6 | 41.4 | 55.0
| HCB | 53.3 | 35.0 | 11.7
| JPT | 47.3 | 42.0 | 10.7
| YRI | 0.0 | 3.4 | 96.6
| ASW | 0.0 | 21.1 | 78.9
| CHB | 53.3 | 35.0 | 11.7
| CHD | 56.9 | 33.9 | 9.2
| GIH | 3.0 | 28.7 | 68.3
| LWK | 0.0 | 4.5 | 95.5
| MEX | 10.5 | 24.6 | 64.9
| MKK | 0.0 | 8.4 | 91.6
| TSI | 5.9 | 30.4 | 63.7
| HapMapRevision=28
}}[http://blog.23andme.com/2009/07/06/snpwatch-genetic-variants-near-tumor-suppressor-genes-may-increase-risk-for-brain-and-skin-cancer/ 23andMe blog] [[rs6010620]] G 1.28 [[Glioma]]

{{PMID Auto GWAS
|PMID=19578367
|Trait=Glioma
|Title=Genome-wide association study identifies five susceptibility loci for glioma
|RiskAllele=G
|Pval=3E-12
|OR=1.28
|ORtxt=[1.21-1.35]
}}
{{PMID Auto GWAS
|PMID=19578366
|Trait=Glioma (high-grade)
|Title=Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility
|RiskAllele=G
|Pval=3E-9
|OR=1.52
|ORtxt=[1.32-1.75]
|OA=1
}}

{{PMID Auto
|PMID=20462933
|Title=Interaction between 5 genetic variants and allergy in glioma risk
}}
{{PMID Auto
|PMID=20847058
|Title=Genetic risk profiles identify different molecular etiologies for glioma
|OA=1
}}
{{PMID Auto
|PMID=20211558
|Title=Genetic advances in glioma: susceptibility genes and networks
|OA=1
}}

{{omim
|id=613031
|rsnum=6010620
}}

{{PMID Auto
|PMID=21350045
|Title=Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population
}}

{{PMID Auto GWAS
|PMID=21531791
|Trait=None
|Title=Chromosome 7p11.2 (EGFR) variation influences glioma risk.
|RiskAllele=
|Pval=2E-9
|OR=1.2400
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto
|PMID=22448455
|Title=Genetic variant rs4982958 at 14q11.2 is associated with allergic rhinitis in a Chinese Han population running title: 14q11.2 is a susceptibility locus for allergic rhinitis
}}

{{PMID Auto
|PMID=22197932
|Title=Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
|OA=1
}}

{{PMID Auto
|PMID=20212223
|Title=New insights into susceptibility to glioma.
}}

{{PMID Auto
|PMID=21666691
|Title=Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.
}}

{{PMID Auto
|PMID=21825990
|Title=Genetic causes of glioma: new leads in the labyrinth.
}}

{{PMID Auto
|PMID=22387365
|Title=Fine mapping analysis of a region of 20q13.33 identified five independent susceptibility loci for glioma in a Chinese Han population.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6010620
|overall_frequency_n=108
|overall_frequency_d=128
|overall_frequency=0.84375
|n_genomes=53
|n_genomes_annotated=0
|n_haplomes=93
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23091480
|Title=Leveraging ethnic group incidence variation to investigate genetic susceptibility to glioma: a novel candidate SNP approach
|OA=1
}}

{{PMID Auto GWAS
  |PMID=22886559
  |Trait=Glioma
  |Title=Genome-wide association study of glioma and meta-analysis.
  |RiskAllele=G
  |Pval=1E-10
  |OR=1.43
  |ORtxt=[1.28-1.59]
  |OA=1
}}

{{PMID Auto
|PMID=23115063
|Title=Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study
|OA=1
}}

{{PMID Auto
|PMID=23683922
|Title=RTEL1 tagging SNPs and haplotypes were associated with glioma development
|OA=1
}}

{{PMID Auto
|PMID=23161787
|Title=Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies
|OA=1
}}

{{PMID Auto
|PMID=23733245
|Title=Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.
}}

{{PMID Auto
|PMID=23812731
|Title=RTEL1 and TERT polymorphisms are associated with astrocytoma risk in the Chinese Han population.
}}

{{PMID Auto
|PMID=23838578
|Title=Genetic variants rs2393903 at 10q21.2 and rs6010620 at 20q13.33 are associated with clinical features of atopic dermatitis in the Chinese Han population
}}

{{PMID Auto
|PMID=25165198
|Title=Mutation-based molecular glioma classification: prevalence and association with germline risk snps
}}

{{PMID Auto
|PMID=25227808
|Title=Associations between the rs6010620 Polymorphism in RTEL1 and Risk of Glioma: a Meta-analysis of 20,711 Participants
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}