rs484389

This is a 3 prime utr variant variant in the PGR gene.

Research that mentions this SNP (1)

Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women
AssociationN=196Aibibuhan· Abulaizi et al.(2020)· International Urogynecology Journal

Candidate gene association study in Xinjiang women identifying pelvic organ prolapse (POP) susceptibility loci. Among 88 POP cases and 108 controls, ESR1 rs17847075 (OR=2.738, P=0.041) and rs2234693 (OR=2.99, P=0.024), ZFAT rs1036819 (OR=10.286, P=0.036), and protective FBLN5 rs12589592 (OR=0.111, P=0.029) showed significant associations with POP risk.

Traits studied:Pelvic organ prolapse

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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