Gene: ETS1
Alternate names for this Gene: ETS-1|EWSR2|c-ets-1|p54
Gene Summary: This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Gene is located in Chromosome: 11
Location in Chromosome : 11q24.3
Description of this Gene: ETS proto-oncogene 1, transcription factor
Type of Gene: protein-coding
rs116502295 in
ETS1 gene and
Adverse effects, not elsewhere classified
PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.
rs11221322 in
ETS1 gene and
Ankylosing spondylitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs11221332 in
ETS1 gene and
Asthma
PMID 21150878 2011 Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.
rs11221332 in
ETS1 gene and
Autoimmune Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs8705 in
ETS1 gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11221332 in
ETS1 gene and
Celiac Disease
PMID 20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.
PMID 25920553 2016 Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.
rs11221322 in
ETS1 gene and
Cholangitis, Sclerosing
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs11221322 in
ETS1 gene and
Crohn Disease
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs11819995 in
ETS1 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
rs8705 in
ETS1 gene and
Eosinophil count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs7924522 in
ETS1 gene and
Glaucoma
PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
rs8705 in
ETS1 gene and
Granulocyte count
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11221332 in
ETS1 gene and
Immune System Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs11221332 in
ETS1 gene and
Inflammatory Bowel Diseases
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
rs1128334 in
ETS1 gene and
Lupus Erythematosus, Systemic
PMID 20169177 2010 By a genome-wide association study (320 patients and 1,500 controls) and subsequent replication altogether involving a total of 3,300 Asian SLE patients from Hong Kong, Mainland China, and Thailand, as well as 4,200 ethnically and geographically matched controls, genetic variants in ETS1 and WDFY4 were found to be associated with SLE (ETS1: rs1128334, P = 2.33x10(-11), OR = 1.29; WDFY4: rs7097397, P = 8.15x10(-12), OR = 1.30).
PMID 26663301 2016 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.
rs4937334 in
ETS1 gene and
Lymphocyte Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs34834119 in
ETS1 gene and
Monocyte count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs34834119 in
ETS1 gene and
Monocyte count result
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11221332 in
ETS1 gene and
Multiple Sclerosis
PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
rs8705 in
ETS1 gene and
Neutrophil count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs4937333 in
ETS1 gene and
Platelet Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11221322 in
ETS1 gene and
Psoriasis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.
PMID 25903422 2015 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.
rs3802826 in
ETS1 gene and
Psoriasis vulgaris
PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.
rs11221332 in
ETS1 gene and
Tonometry
PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.
PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
rs11221322 in
ETS1 gene and
Ulcerative Colitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs7108992 in
ETS1 gene and
Vital capacity
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs8705 in
ETS1 gene and
White Blood Cell Count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.