rs608995
This is a 3 prime utr variant variant in the PGR gene.
▶Research that mentions this SNP (1)
▶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.
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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