Gene: GLIS3

Alternate names for this Gene: NDH|ZNF515

Gene Summary: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.2

Description of this Gene: GLIS family zinc finger 3

Type of Gene: protein-coding

rs514716 in GLIS3 gene and Alzheimer's Disease PMID 23562540 2013 We performed the largest genome-wide association study for cerebrospinal fluid (CSF) tau/ptau levels published to date (n = 1,269), identifying three genome-wide significant loci for CSF tau and ptau: rs9877502 (p = 4.89 × 10⁻⁹ for tau) located at 3q28 between GEMC1 and OSTN, rs514716 (p = 1.07 × 10⁻⁸ and p = 3.22 × 10⁻⁹ for tau and ptau, respectively), located at 9p24.2 within GLIS3 and rs6922617 (p = 3.58 × 10⁻⁸ for CSF ptau) at 6p21.1 within the TREM gene cluster, a region recently reported to harbor rare variants that increase AD risk.

rs10814916 in GLIS3 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs10974438 in GLIS3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs7034200 in GLIS3 gene and Body mass index PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

rs7026684 in GLIS3 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs10114763 in GLIS3 gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs1934661 in GLIS3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs10974438 in GLIS3 gene and Degenerative polyarthritis PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs10758593 in GLIS3 gene and Diabetes Mellitus, Insulin-Dependent PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

rs1017568 in GLIS3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 22961080 2013 A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

PMID 22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

rs12336359 in GLIS3 gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs10758593 in GLIS3 gene and Fasting blood glucose measurement PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

PMID 25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.

PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

PMID 25631608 2015 Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

PMID 20081858 2010 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

rs10758593 in GLIS3 gene and Fasting blood sugar result PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs1570203 in GLIS3 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

rs57884925 in GLIS3 gene and Glucose measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs6415788 in GLIS3 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6415788 in GLIS3 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1571583 in GLIS3 gene and Hormone measurement PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

rs7020673 in GLIS3 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs10974284 in GLIS3 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs10116772 in GLIS3 gene and Osteoarthritis of hip PMID 29436472 2018 A novel variant in GLIS3 is associated with osteoarthritis.

PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs10116772 in GLIS3 gene and Osteoarthritis, Knee PMID 29436472 2018 A novel variant in GLIS3 is associated with osteoarthritis.

PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs736893 in GLIS3 gene and Primary angle-closure glaucoma PMID 27064256 2016 Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

rs6415788 in GLIS3 gene and Red Blood Cell Count measurement 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.

rs13301469 in GLIS3 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs12348139 in GLIS3 gene and Smoking PMID 28440896 2017 Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence.

rs28558845 in GLIS3 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs1571583 in GLIS3 gene and Thyroid stimulating hormone measurement PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

rs10119187 in GLIS3 gene and Thyroxine measurement PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

rs1570204 in GLIS3 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for 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 30591961 2019 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.

rs4741893 in GLIS3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs501461 in GLIS3 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs57884925 in GLIS3 gene and elevated blood glucose level PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10974256 in GLIS3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs1570203 in GLIS3 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.