rs66978877

This is a regulatory region variant variant in the PGPEP1 gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele C
OR 12.32
p 7.0e-35
N 33,748
Large GWAS
European

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele C
OR 0.01
p 1.0e-23
N 3,382,012
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele C
OR 7.32
p 2.0e-13
N 33,748
Large GWAS
European

hypertension

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.07
p 5.0e-9
N 50,792
Large GWAS
multi-ancestry

About PGPEP1

The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]

View all PGPEP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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