Gene: PDE10A

Alternate names for this Gene: ADSD2|HSPDE10A|IOLOD|LINC00473|PDE10A19

Gene Summary: The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q27

Description of this Gene: phosphodiesterase 10A

Type of Gene: protein-coding

rs7744143 in PDE10A gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs1039002 in PDE10A gene and Bipolar Disorder PMID 22205951 2011 Bipolar disorder with psychosis and/or substance abuse in the absence of alcohol dependence was associated with the rare variant rs1039002 in the vicinity of the gene phosphodiesterase 10A (PDE10A) on chromosome 6q27 (p = 1.7×10⁻⁸).

rs2934844 in PDE10A gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs221721 in PDE10A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2934849 in PDE10A gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7762160 in PDE10A gene and Conduct Disorder PMID 20585324 2011 Genome-wide association study of conduct disorder symptomatology.

rs778899140 in PDE10A gene and DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET PMID 27058446 2016 Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

rs147212971 in PDE10A gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs753760 in PDE10A 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.

rs2983514 in PDE10A gene and Hyperthyroidism PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

rs1079418 in PDE10A gene and Hypothyroidism PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

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.

rs2983533 in PDE10A gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6932812 in PDE10A gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs2983511 in PDE10A gene and Thyroid stimulating hormone measurement PMID 28333968 2017 Four loci previously associated with TSH in adults were confirmed in this study population (PDE10A (rs2983511: β = 0.112SD, p = 4.8 ∙ 10-16), FOXE1 (rs7847663: β = 0.223SD, p = 1.5 ∙ 10-20), NR3C2 (rs9968300: β = 0.194SD), p = 2.4 ∙ 10-11), VEGFA (rs2396083: β = 0.088SD, p = 2.2 ∙ 10-10)).

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

PMID 28333968 2017 A genome-wide association study of thyroid stimulating hormone and free thyroxine in Danish children and adolescents.

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