rs10895068
This is a 5 prime utr variant variant in the PGR gene.
▶Research that mentions this SNP (5)
▶Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in BavariaAssociationN=282Jutta Pretscher et al.(2021)· Archives of Gynecology and Obstetrics
Case-control study of 167 preeclampsia patients and 115 healthy Bavarian controls examining associations between hormone pathway SNPs and preeclampsia risk. Found rs10895068 (G/A genotype) in the progesterone receptor gene significantly more frequent in preeclampsia cases (16% vs 6%, P=0.023). No significant associations observed for rs1042838, rs488133, rs10046, or rs4646.
▶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).
▶+331G/A variant in the progesterone receptor gene, postmenopausal hormone use and risk of breast cancerAssociationN=4,055Joanne Kotsopoulos et al.(2009)· International Journal of Cancer
A nested case-control study of 1,664 postmenopausal breast cancer cases and 2,391 controls from the Nurses' Health Study examined the association between the +331G/A polymorphism (rs10895068) in the progesterone receptor gene and breast cancer risk, stratified by postmenopausal hormone (PMH) use. Women carrying the A allele had a 31% increased risk overall (OR=1.31, 95% CI 1.04-1.65), but the effect was strongly modified by PMH use: among never users, the risk was 2.57-fold elevated (95% CI 1.64-4.02), while among past or current users, no significant association was observed (OR=1.23 and 1.14, respectively; P-interaction <0.05).
▶Common germline polymorphisms in COMT, CYP19A1, ESR1, PGR, SULT1E1 and STS and survival after a diagnosis of breast cancerAssociationN=4,470Miriam S. Udler et al.(2009)· International Journal of Cancer
This population-based study of 4,470 breast cancer cases from the SEARCH cohort examined associations between germline polymorphisms in 6 steroid hormone metabolism genes (COMT, CYP19A1, ESR1, PGR, SULT1E1, STS) and survival after breast cancer diagnosis. A COMT polymorphism (rs4818) showed significant association with survival in a dominant model (HR=0.80, 95% CI: 0.69-0.95, p=0.009), though this was only marginally significant after permutation adjustment (p=0.047). No significant associations were found in the other genes studied.
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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