Gene: PDE1C

Alternate names for this Gene: DFNA74|Hcam3|cam-PDE 1C|hCam-3

Gene Summary: This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: phosphodiesterase 1C

Type of Gene: protein-coding

rs12701204 in PDE1C gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10239506 in PDE1C gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs17161076 in PDE1C gene and Body mass index PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

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

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs775633137 in PDE1C gene and DEAFNESS, AUTOSOMAL DOMINANT 74 PMID 29860631 2018 A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

rs7785659 in PDE1C gene and Degenerative polyarthritis PMID 22763110 2012 Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

rs2270221 in PDE1C gene and Endometriosis PMID 23472165 2013 Genome-wide association study link novel loci to endometriosis.

rs10237735 in PDE1C gene and Fatty acid measurement PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

rs10239506 in PDE1C gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs62458065 in PDE1C gene and Homovanillic acid measurement PMID 23319000 2014 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.

rs10236197 in PDE1C gene and Intelligence PMID 29520040 2019 Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 28530673 2017 Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

rs10237735 in PDE1C gene and Phospholipid measurement PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

rs9771228 in PDE1C gene and Reasoning PMID 27046643 2016 Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151).

rs12701204 in PDE1C gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs215614 in PDE1C gene and Smoking PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

rs1014242 in PDE1C gene and Smoking Behaviors PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

rs7798739 in PDE1C 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.