rs6860328

This is a intron variant variant in the PTGER4 gene.

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GWAS Catalog Trait Associations (2)

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

peptic ulcer disease

He Y et al. “East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease.” Nature Genetics 55(12):2129-2138 (2023)
Allele C
OR 0.08
p 4.0e-20
N 270,414
Large GWAS
East Asian

gastric ulcer

He Y et al. “East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease.” Nature Genetics 55(12):2129-2138 (2023)
Allele C
OR 0.07
p 6.0e-10
N 261,647
Large GWAS
East Asian

About PTGER4

The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008]

View all PTGER4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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