PGR, progesterone receptor, 5241

N. diseases: 392; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphisms in oestrogen receptor genes ESR1 (rs2234693 - T/C single nucleotide polymorphism (SNP), dinucleotide (TA)(n) repeat) and ESR2 (dinucleotide (CA)(n) repeat), progesterone receptor gene PGR (rs10895068 - G/A SNP, 306-bp Alu-insertion), 17β-hydroxysteroid dehydrogenase type 1 gene HSD17B1 (rs605059 - A/G SNP), and aromatase gene CYP19A1 (rs10046 - C/T SNP, (TTTA)(n) tetranucleotide repeat, 3-bp TCT insertion/deletion polymorphism). 20586553 2011
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE Progesterone receptor +331G/A polymorphism in endometriosis and deep-infiltrating endometriosis. 18281038 2008
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE In a case-control study, we examined the PROGINS polymorphism of the progesterone receptor gene in 131 Italian women affected by endometriosis diagnosed according to published criteria for the definition of the definite disease. 15272913 2004
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE The present study demonstrated that epigenetic changes occur in both promoter regions of the PGR gene in intestinal endometriosis. 24481237 2014
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE These findings suggest that the +331G/A progesterone receptor promoter polymorphism may modify the molecular epidemiologic pathway that encompasses both the development of endometriosis and its subsequent transformation into endometrioid/clear cell ovarian cancer. 15598772 2004
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE Genotypes P1P1, P1P2 and P2P2 (P2 representing the PROGINS polymorphism) of the progesterone receptor gene presented frequencies of 93.9%, 5.4% and 0.7%, respectively, in the women with endometriosis-associated infertility (p=0.2101, OR=0.51, 95% CI=0.24-1.09); 94.4%, 4.2% and 1.4%, respectively, in the patients with minimal/mild endometriosis (p=0.2725, OR=0.53, 95% CI=0.20-1.43); 93.5%, 6.5% and 0%, respectively, among the patients with moderate/severe endometriosis (p=0.3679, OR=0.49, 95% CI=0.18-1.31); 86.0%, 14.0% and 0%, respectively, in idiopathic infertile women (p=0.8146, OR=1.10, 95% CI=0.46-2.63); and 88.3%, 10.6% and 1.1%, respectively, in the control group. 21243274 2010
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE We conclude that there is a significant correlation between PROGINS polymorphism and endometriosis. 21751163 2011
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE Progesterone receptor gene polymorphisms and risk of endometriosis: results from an international collaborative effort. 20719308 2011
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE The frequencies of the PR polymorphisms were determined in women with deep infiltrating endometriosis (n = 72), women with adenomyosis in the uterine wall (n = 40), gynaecological patients without symptomatic endometriosis (n = 102) and healthy females (n = 93). 16920727 2007
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE Eutopic endometria were collected from three sources: women with endometriosis who had a single PROGINS allele (from the progesterone receptor gene); women with endometriosis who had the wild-type progesterone receptor allele; and women without endometriosis who had the wild-type allele. 19497994 2009
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE The <i>PGR-A</i> gene showed 0% of DNA methylation (unmethylated) in both control and endometriosis groups. 30782101 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE To investigate the association between the 306-base pair insertion polymorphism in intron G of the progesterone receptor (PROGINS) and endometriosis. 11821088 2002
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE Endometriosis is often treated with progestins, which act as progesterone receptor agonists, although their exact mechanisms of action are not completely understood. 23183084 2013
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease LHGDN Genetic polymorphisms of cytochrome P450cl7alpha (CYP17) and progesterone receptor genes (PROGINS) in the assessment of endometriosis risk. 17484509 2007
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease LHGDN Progesterone receptor +331G/A polymorphism in endometriosis and deep-infiltrating endometriosis. 18281038 2008
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE Association of the progesterone receptor gene polymorphism (PROGINS) with endometriosis: a meta-analysis. 24943061 2014
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease BEFREE We typed the 306 base pair Alu insertion (AluIns) polymorphism in intron G of PR in 101 individuals, estimated linkage disequilibrium (LD) between five single-nucleotide polymorphisms (SNPs) across the PR locus in 980 Australian triads (endometriosis case and two parents) and used transmission disequilibrium testing (TDT) for association with endometriosis. 16126772 2005
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.600 GeneticVariation disease LHGDN The frequencies of the PR polymorphisms were determined in women with deep infiltrating endometriosis (n = 72), women with adenomyosis in the uterine wall (n = 40), gynaecological patients without symptomatic endometriosis (n = 102) and healthy females (n = 93). 16920727 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE While the exon 4-deleted, exon 6-deleted and exon 3,4-deleted PR variant mRNAs were observed in all samples analyzed, the exon 5,6-deleted, exon 4,5,6-deleted and/or exon 3,4,5,6-deleted PR variant mRNAs could not be detected in some cases, especially in poorly differentiated adenocarcinoma as compared with well-differentiated and moderately differentiated adenocarcinomas. 10644942 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE Stratification analysis showed that rs13293512 CC genotype was associated with an increased risk of BC in patients with negative estrogen receptor (adjusted OR = 2.39; 95% CI: 1.32-4.30; <i>P=</i>0.004), patients with negative progesterone receptor (adjusted OR = 1.92; 95% CI: 1.11-3.33; <i>P=</i>0.02), patients with T1-2 stage cancer (adjusted OR = 1.77; 95% CI: 1.07-2.93; <i>P=</i>0.03), and patients with N1-3 stage cancer (adjusted OR = 1.89; 95% CI: 1.13-3.17; <i>P=</i>0.015). 31028134 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with absence of progesterone receptor. 20712647 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE Furthermore, on performing stratified analysis between breast cancer risk and different clinicopathological characteristics, we observed strong associations for menopausal status, estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) status, clinical stage, and histological grade. 24430361 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE These results provide further information regarding the association between the Alu insertion in the PGR gene and the incidence of breast cancer. 29370776 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE This study was designed to determine the frequency of p53 gene mutations in primary breast cancer, to correlate the presence of p53 mutations with established clinicopathologic parameters, including the estrogen receptor (ER) and progesterone receptor (PR) status, and to assess the prognostic significance of p53 mutations regarding patient survival. 8156519 1994
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE Analysis of variance indicated a variable level of expression of both genes with regard to breast cancer grade (P = 0.00033 for glucocorticoid receptor and P = 0.023 for progesterone receptor). 12559052 2003