rs6885099
This variant is located in the PDE8B gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hypothyroidism
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele G
OR 0.10
p 1.0e-93
N 1,178,661
Large GWAS
European
Thyrotoxicosis
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.17
p 1.0e-23
N 626,884
Major Consortium StudyLarge GWAS
multi-ancestry
nodular goiter
White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele G
OR 0.05
p 6.0e-15
N 1,807,553
Large GWAS
European
hormone measurement, Thyroid stimulating hormone level
Porcu E et al. “A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.” Plos Genetics 9(2):e1003266 (2013)
Allele A
OR 0.12
p 6.0e-24
N 26,420
Meta-analysisLarge GWAS
European
About PDE8B
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.[provided by RefSeq, Jul 2010]
View all PDE8B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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