rs11224561
This is a 3 prime utr variant variant in the PGR gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
age at menopause
▶Research that mentions this SNP (1)
▶Association of the progesterone receptor gene with endometrial cancer risk in a Chinese populationAssociationN=2,416Wang‐Hong Xu et al.(2009)· Cancer
A population-based case-control study of 1,204 endometrial cancer cases and 1,212 controls from Shanghai examined associations between 7 tag SNPs in the progesterone receptor (PGR) gene and endometrial cancer risk. Two SNPs in the 3' flanking region were associated with reduced cancer risk: rs11224561 CC genotype (OR=0.68, 95% CI=0.50-0.92) and rs471767 G allele (OR per allele=0.77, 95% CI=0.58-1.01). A trend of decreasing risk with increasing minor alleles was observed (P for trend=0.02).
About PGR
This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]
View all PGR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…