Gene: PDE8B

Alternate names for this Gene: ADSD|PPNAD3

Gene Summary: The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q13.3

Description of this Gene: phosphodiesterase 8B

Type of Gene: protein-coding

rs4704397 in PDE8B gene and Blood thyroid stimulating hormone analysis PMID 18514160 2008 Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.

rs4703730 in PDE8B gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2928166 in PDE8B gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2928166 in PDE8B gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6885099 in PDE8B 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.

rs2046045 in PDE8B gene and Hyperthyroidism PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

rs10036386 in PDE8B gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs10061629 in PDE8B gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs121918360 in PDE8B gene and PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 PMID 18431404 2008 A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

rs1479559 in PDE8B gene and Red Blood Cell Count measurement 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.

rs1382879 in PDE8B gene and Thyroid stimulating hormone measurement PMID 25436638 2014 Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.

PMID 25743335 2015 Whole-genome sequence-based analysis of thyroid function.

PMID 18514160 2008 By genotyping 362,129 SNPs in 4,300 Sardinians, we identified a strong association (p = 1.3 x 10(-11)) between alleles of rs4704397 and circulating TSH levels; each additional copy of the minor A allele was associated with an increase of 0.13 muIU/ml in TSH.

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

rs1382894 in PDE8B gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs10036386 in PDE8B gene and thyroid function PMID 22494929 2012 Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.

PMID 18514160 2008 Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.