rs1042839
This is a synonymous variant in the PGR gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (2)
▶Worldwide distribution of allelic variation at the progesterone receptor locus and the incidence of female reproductive cancersAssociationN=289Rockwell LC et al.(2012)· American Journal of Human Biology
This population genetics study genotyped 289 individuals from 21 global populations for four progesterone receptor (PGR) gene variants (rs10895068, rs561650, rs608995, and the Alu insertion in PROGINS haplotype). The study found significant positive correlations between allele frequencies and female reproductive cancer incidence: the Alu insertion showed strong correlation with breast cancer (r=0.86) and ovarian cancer (r=0.53), while the rs10895068 A variant correlated with ovarian (r=0.73) and breast cancer (r=0.57). These findings suggest PGR genetic variation may contribute to global patterns of reproductive cancer incidence.
▶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.
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