Gene: ZPR1

Alternate names for this Gene: ZNF259

Gene Summary: The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: ZPR1 zinc finger

Type of Gene: protein-coding

rs964184 in ZPR1 gene and Atrial Fibrillation PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11823543 in ZPR1 gene and Blood Pressure PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs964184 in ZPR1 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.

rs964184 in ZPR1 gene and Body mass index PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs964184 in ZPR1 gene and Calcification of coronary artery PMID 22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

rs964184 in ZPR1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs964184 in ZPR1 gene and Cerebrovascular accident PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs964184 in ZPR1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs6589566 in ZPR1 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs964184 in ZPR1 gene and Corpuscular Hemoglobin Concentration Mean PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs964184 in ZPR1 gene and Diabetes PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs964184 in ZPR1 gene and Diabetes Mellitus PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs964184 in ZPR1 gene and Diastolic blood pressure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs964184 in ZPR1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs964184 in ZPR1 gene and Glucose measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs964184 in ZPR1 gene and Heart failure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs964184 in ZPR1 gene and Hematocrit procedure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11604424 in ZPR1 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

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

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

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

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

PMID 30911093 2019 Genome-wide association study of blood lipids in Indians confirms universality of established variants.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 21589926 2011 Here we apply an EMR-based phenotyping approach, within the context of routine care, to replicate several known associations between HDL-C and previously characterized genetic variants: CETP (rs3764261, p = 1.22e-25), LIPC (rs11855284, p = 3.92e-14), LPL (rs12678919, p = 1.99e-7), and the APOA1/C3/A4/A5 locus (rs964184, p = 1.06e-5), all adjusted for age, gender, body mass index (BMI), and smoking status.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

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

rs964184 in ZPR1 gene and Hypertriglyceridemia PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.

PMID 20657596 2010 Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

PMID 27599772 2017 A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.

rs113932726 in ZPR1 gene and Low density lipoprotein cholesterol measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

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

PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

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

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

rs964184 in ZPR1 gene and Malignant Neoplasms PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs12286037 in ZPR1 gene and Metabolic Syndrome X PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

PMID 30382898 2018 Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

PMID 22399527 2012 A previously known lipid locus, APOA1/C3/A4/A5 gene cluster region (SNP rs964184), was associated with MetS in all 4 study samples (P=7.23×10(-9) in meta-analysis).

rs964184 in ZPR1 gene and Phospholipid measurement PMID 22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

rs964184 in ZPR1 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.

rs964184 in ZPR1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3741298 in ZPR1 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs2075290 in ZPR1 gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs964184 in ZPR1 gene and RDW - Red blood cell distribution width result 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.

rs964184 in ZPR1 gene and Red cell distribution width determination 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.

rs964184 in ZPR1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12285095 in ZPR1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 21589926 2011 Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs6589566 in ZPR1 gene and Serum LDL cholesterol measurement PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs10750096 in ZPR1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs11604424 in ZPR1 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

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

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

PMID 24023260 2013 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

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

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

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

rs964184 in ZPR1 gene and Systolic Pressure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11604424 in ZPR1 gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

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

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

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

PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

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

PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

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

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

PMID 31560688 2019 Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.

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

PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

PMID 30911093 2019 Genome-wide association study of blood lipids in Indians confirms universality of established variants.

PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 24886709 2014 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.

PMID 26160806 2015 Contribution of Rare and Common Genetic Variants to Plasma Lipid Levels and Carotid Stiffness and Geometry: A Substudy of the Paris Prospective Study 3.

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

PMID 29404214 2018 Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.

PMID 28548082 2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 22171074 2012 A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.

rs964184 in ZPR1 gene and VLDL cholesterol measurement PMID 28548082 2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

rs964184 in ZPR1 gene and Vitamin E Assay PMID 21729881 2011 In genome-wide association studies (GWAS) of common genetic variants associated with circulating alpha- and gamma-tocopherol concentrations in two adult cohorts comprising 5006 men of European descent, we observed three loci associated with alpha-tocopherol levels, two novel single-nucleotide polymorphisms (SNPs), rs2108622 on 19pter-p13.11 (P= 1.7 × 10(-8)) and rs11057830 on 12q24.31 (P= 2.0 × 10(-8)) and confirmed a previously reported locus marked by rs964184 on 11q23.3 (P= 2.7 × 10(-10)).

rs964184 in ZPR1 gene and Vitamin K Assay PMID 25411281 2014 Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.

rs964184 in ZPR1 gene and Vitamin measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs964184 in ZPR1 gene and elevated blood glucose level PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.