Gene: ABO

Alternate names for this Gene: A3GALNT|A3GALT1|GTB|NAGAT

Gene Summary: This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

Type of Gene: protein-coding

rs657152 in ABO gene and Activated Partial Thromboplastin Time measurement PMID 23188048 2013 A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22703881 2012 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

rs687621 in ABO gene and Adolescent idiopathic scoliosis PMID 30395268 2018 Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

rs2519093 in ABO gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27897004 2017 IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.

PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

PMID 24094242 2013 Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.

PMID 24094242 2013 The association between ABO locus and serum ALP levels was replicated (P = 2.50 × 10⁻²¹, 1.12 × 10⁻⁵⁶ and 2.82 × 10⁻²⁷ for SNP rs8176720, rs651007 and rs7025162 on ABO locus, respectively).

rs2519093 in ABO gene and Allergic Reaction PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 29679657 2019 Eleven loci with new reproducible genetic associations with allergic disease risk.

rs2519093 in ABO gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs657152 in ABO gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs10793962 in ABO gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 31320639 2019 Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.

rs8176685 in ABO 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.

rs8176644 in ABO gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs505922 in ABO gene and C-reactive protein measurement PMID 22291609 2012 A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs529565 in ABO gene and Cerebrovascular accident PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs687289 in ABO gene and Coagulation factor measurement PMID 23267103 2013 Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

rs2519093 in ABO gene and Coronary Artery Disease PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

rs514659 in ABO gene and Coronary heart disease PMID 21239051 2011 Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.

rs2073824 in ABO gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs491626 in ABO gene and Creatine kinase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs529565 in ABO gene and Deep Vein Thrombosis PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs657152 in ABO gene and Diabetes Mellitus, Insulin-Dependent PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs505922 in ABO gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29358691 2018 Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

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

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

rs507666 in ABO gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs582094 in ABO gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs505922 in ABO gene and Duodenal Ulcer PMID 22387998 2012 The T allele of rs2294008 encodes a translation initiation codon upstream of the reported site and changes protein localization from the cytoplasm to the cell surface. rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR = 1.32; P = 1.15 × 10(-10)).

PMID 22387998 2012 A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.

rs2519093 in ABO gene and E-selectin Measurement PMID 31217265 2019 Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns.

PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs2519093 in ABO gene and Eosinophil 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.

rs687289 in ABO gene and Factor VII measurement PMID 23267103 2013 Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

rs687289 in ABO gene and Factor VIII measurement PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

rs2769071 in ABO gene and Fibroblast Growth Factor 23 Measurement PMID 30217807 2018 Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.

rs149037075 in ABO gene and Finding of Mean Corpuscular Hemoglobin 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.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs657152 in ABO gene and Finding of liver enzyme levels PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

rs550057 in ABO gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs612169 in ABO gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs492488 in ABO gene and Glycine measurement PMID 31070104 2019 Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.

PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs505922 in ABO gene and Graves Disease PMID 23612905 2013 Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.

rs10901252 in ABO gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10901252 in ABO gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs505922 in ABO gene and Homocysteine measurement PMID 28495826 2017 Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

rs657152 in ABO 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.

rs505922 in ABO gene and Ischemic stroke PMID 28495826 2017 Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs2519093 in ABO gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs505922 in ABO gene and Malaria PMID 23717212 2013 Imputation-based meta-analysis of severe malaria in three African populations.

PMID 22895189 2012 Genome-wide association study indicates two novel resistance loci for severe malaria.

rs505922 in ABO gene and Malignant neoplasm of pancreas PMID 19648918 2009 We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28).

rs149037075 in ABO gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs657152 in ABO gene and Measurement of liver enzyme PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

rs687289 in ABO gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs687289 in ABO gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs514659 in ABO gene and Myocardial Infarction PMID 21239051 2011 Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

rs505922 in ABO gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs505922 in ABO gene and Pancreatic carcinoma PMID 26098869 2015 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.

PMID 29422604 2018 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.

PMID 19648918 2009 We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28).

PMID 25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.

rs505922 in ABO gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs8176685 in ABO gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs8176747 in ABO gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs507666 in ABO gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs2073825 in ABO gene and Protein measurement PMID 23056639 2012 A genome-wide association study of circulating galectin-3.

rs505922 in ABO gene and Pseudocholinesterase Measurement PMID 21239051 2011 Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.

rs529565 in ABO gene and Pulmonary Embolism PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs8176644 in ABO gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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.

rs12216891 in ABO gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

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

rs8176644 in ABO gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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.

rs8176747 in ABO gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs687621 in ABO gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30395268 2018 Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

rs630014 in ABO gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs505922 in ABO gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs2519093 in ABO gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs643434 in ABO gene and Soluble Interleukin 6 Receptor Measurement PMID 22291609 2012 A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs7849280 in ABO gene and Stomach Carcinoma PMID 30281874 2018 Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21.

rs116552240 in ABO gene and Thyroid stimulating hormone measurement PMID 25743335 2015 Whole-genome sequence-based analysis of thyroid function.

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

rs10793962 in ABO gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

PMID 28073927 2017 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

PMID 25173106 2014 Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

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

rs2073825 in ABO gene and Venous Thromboembolism PMID 21980494 2011 Genetics of venous thrombosis: insights from a new genome wide association study.

PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

PMID 22672568 2012 ABO re-sequencing identified 15 novel single nucleotide variations (SNV) in ABO intron 6 and the ABO 3' UTR that were strongly associated with VTE (P<10(-4)) and belonged to three distinct linkage disequilibrium (LD) blocks; none were in LD with ABO rs8176719 or rs2519093.

PMID 28373160 2017 Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.

PMID 19278955 2009 Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.

PMID 22672568 2012 A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.

PMID 25772935 2015 Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.

PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

PMID 23650146 2013 A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.

PMID 22672568 2012 ABO re-sequencing identified 15 novel single nucleotide variations (SNV) in ABO intron 6 and the ABO 3' UTR that were strongly associated with VTE (P<10(-4)) and belonged to three distinct linkage disequilibrium (LD) blocks; none were in LD with ABO rs8176719 or rs2519093.

PMID 31676865 2019 Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.

rs10901253 in ABO gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.

rs550057 in ABO gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2519093 in ABO gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs612169 in ABO gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs10901252 in ABO gene and von Willebrand's factor (lab test) PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

PMID 28495826 2017 Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

PMID 26486471 2016 Genome-wide association studies identify genetic loci for low von Willebrand factor levels.