Gene: GATA3
Alternate names for this Gene: HDR|HDRS
Gene Summary: This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia.
Gene is located in Chromosome: 10
Location in Chromosome : 10p14
Description of this Gene: GATA binding protein 3
Type of Gene: protein-coding
rs4143094 in
GATA3 gene and
Adenocarcinoma of large intestine
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs11255504 in
GATA3 gene and
Adult onset asthma
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
rs10905284 in
GATA3 gene and
Asthma
PMID 30552067 2019 Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.
rs104894163 in
GATA3 gene and
Barakat syndrome
PMID 10935639 2000 GATA3 haplo-insufficiency causes human HDR syndrome.
PMID 11389161 2001 GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
PMID 26514990 2015 A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.
rs4143094 in
GATA3 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs4143094 in
GATA3 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs4143094 in
GATA3 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs4143094 in
GATA3 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs4143094 in
GATA3 gene and
Colorectal Carcinoma
PMID 24743840 2014 The risk of colorectal cancer associated with processed meat was increased among individuals with the rs4143094-TG and -TT genotypes (OR = 1.20 and OR = 1.39, respectively) and null among those with the GG genotype (OR = 1.03).
rs4143094 in
GATA3 gene and
Colorectal Neoplasms
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs3802604 in
GATA3 gene and
Diabetes Mellitus, Insulin-Dependent
PMID 31152121 2019 We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>).
rs10905284 in
GATA3 gene and
Eosinophil count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs3781093 in
GATA3 gene and
Hodgkin Disease
PMID 29196614 2017 We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>).
rs1244181 in
GATA3 gene and
Immunoglobulin A deficiency (disorder)
PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
rs4143094 in
GATA3 gene and
Malignant neoplasm of large intestine
PMID 24743840 2014 The risk of colorectal cancer associated with processed meat was increased among individuals with the rs4143094-TG and -TT genotypes (OR = 1.20 and OR = 1.39, respectively) and null among those with the GG genotype (OR = 1.03).
rs4143094 in
GATA3 gene and
Malignant tumor of colon
PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
rs10905284 in
GATA3 gene and
Nasal Polyps
PMID 30643255 2019 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.
rs3781093 in
GATA3 gene and
Nodular Sclerosis Classical Hodgkin Lymphoma
PMID 29196614 2017 We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>).
rs3824662 in
GATA3 gene and
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
PMID 23996088 2013 Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
PMID 29632299 2018 Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
PMID 29296818 2017 Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex.
rs3781093 in
GATA3 gene and
Precursor Cell Lymphoblastic Leukemia Lymphoma
PMID 24141364 2013 Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse.
PMID 25468567 2015 A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults.
rs3781094 in
GATA3 gene and
Respiratory Tract Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs3781094 in
GATA3 gene and
Rheumatoid Arthritis
PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.
PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
rs1244181 in
GATA3 gene and
Selective immunoglobulin A deficiency
PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.