Analysis of the human progesterone receptor gene polymorphism progins in Austrian ovarian carcinoma patients

Tong, Dan; Fabjani, Gerhild; Heinze, Georg; Obermair, A.; Leodolter, Sepp; Zeillinger, Robert

doi:10.1002/1097-0215(20011120)95:6<394::aid-ijc1070>3.0.co;2-x

Cited by 40 publications

(31 citation statements)

References 9 publications

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“…To test if the PROGINS insertion may be a cause of reduced PR expression and or its activity in the infertile men, we screened for its presence in the DNA of fertile and infertile individuals. PROGINS insertion was found to be in complete linkage disequilibrium with the *2 allele in our population, as reported by others [34,41]. However, no significant differences were observed in the frequency of the PROGINS insertion in both fertile and infertile subjects irrespective of whether the subjects were azoopsermic or oligozoospermic or infertile normozoospermic.…”

Section: Discussionsupporting

confidence: 87%

“…PROGINS is a polymorphic variant in the PR gene and has been shown to act as a risk-modulating factor in several gynaecological disorders including cancers [30,32,34,41]. This polymorphic variant is also functionally relevant as presence of PROGINS in the PR affects the stability of its mRNA and the resulting protein has reduced response to progesterone [33].…”

Section: Discussionmentioning

confidence: 99%

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Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI

Sen

Dixit

Thakur

et al. 2013

J Assist Reprod Genet

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Purpose To investigate the association of Progesterone Receptor (PR) gene variations and male infertility Methods DNA extraction, PCR and sequencing of PR gene, PROGINS insertion by PCR. Association of the variations with seminal parameters and outcomes of ICSI. Results Four known SNPs in the PR gene were identified in the study of which three (rs3740753, rs1042838, rs104283) were co-inherited and in complete linkage disequilibrium with the PROGINS Alu insertion. There were no differences in their frequencies between fertile and infertile males. The rs2020880 was found at a very low frequency only in the controls but not in the infertile subjects. The sperm counts, fertilization rate, embryo quality or pregnancy rates were not different in individuals with or without PROGINS allele. Conclusion PR gene alterations are not associated with male infertility or ICSI outcome.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI

Sen

Dixit

Thakur

et al. 2013

J Assist Reprod Genet

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“…[14][15][16][17][18][19][20][21] Several studies demonstrated that the effect of ERT/HRT on lipid levels or atherosclerosis progression in postmenopausal women may differ according to genotypes of genes with important role in lipid metabolism or CVD development, such as apolipoprotein E, [22][23][24] hepatic lipase 25 and myeloperoxidase. 26 Other studies have also shown associations between ESR1 polymorphisms and lipid levels, CVD disease or some vessels' angiographic complications.…”

Section: Discussionmentioning

confidence: 99%

“…14 Analysis of 1730A4G polymorphism at ESR2 showed no significant association with anorexia, 11,17 bulimia nervosa and obesity in children and adolescents, 11 uterine leiomyoma, 16 bipolar disorder 35 and Alzheimer's disease when analyzed individually. 15 The PROGINS polymorphism was associated with risk for breast cancer, 19 but was not associated with ovarian carcinoma, 18 uterine leiomyoma, 16 idiopathic recurrent miscarriage 20 and ovarian and breast cancer. 21 The implications of these polymorphisms in ESR2 and PGR expression or in protein structure have not been elucidated.…”

Section: Esr2 and Pgr Variants And Lipid Levels In Women S Almeida Et Almentioning

confidence: 95%

Estrogen receptor 2 and progesterone receptor gene polymorphisms and lipid levels in women with different hormonal status

et al. 2004

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Sex steroid hormones have multiple effects on lipid metabolism. We investigated the association between two common single nucleotide polymorphisms of the estrogen receptor 2 gene (ESR2), 1082G4A and 1730A4G, and PROGINS polymorphism of the progesterone receptor gene (PGR) with lipoprotein levels in a cross-sectional study with 472 women of European descent. The women were classified into three subgroups according to hormonal status, premenopausal women (n ¼ 187; mean age ¼ 3479.7 years), postmenopausal women exposed to hormone replacement therapy (HRT) (n ¼ 118; 5676.7 years) and postmenopausal women unexposed to HRT (n ¼ 167; 5879.8 years). The premenopausal and postmenopausal women exposed to HRT, both carriers of G/A genotype, exhibited LDL-C (P ¼ 0.027 and 0.001, respectively) and T-chol levels (P ¼ 0.035 and 0.001, respectively) lower than carriers of G/G genotype. This association was not observed in postmenopausal women unexposed to HRT. These results suggest that ESR2 1082G4A genotype may influence LDL-C levels in women with abundant estrogen levels, due to either endogenous or exogenous sources. INTRODUCTIONEndogenous and exogenous sex steroid hormones have multiple effects on lipid and lipoprotein metabolism. The oral estrogen replacement therapy (ERT) in postmenopausal women decreases serum total cholesterol (T-chol) and lowdensity lipoprotein cholesterol (LDL-C) concentrations, as well as increases serum high-density lipoprotein cholesterol (HDL-C) and triglyceride (TG) levels. 1 The effects of combined (estrogen plus progestin) hormone replacement therapy (HRT) are uncertain; the addition of a progestogen to estrogens tends to attenuate the increase in serum HDL-C and the decrease in LDL-C, obtained with ERT, although this effect seems to be related to the dose and to androgenic potency of the progestogen. 2 The beneficial changes in these lipoproteins should be associated with at least 30-35% decline in coronary heart disease (CHD) incidence. 3 However, the results from the Heart and Estrogen/Progestin Replacement Study (HERS) 4 and the Women's Health Initiative (WHI) trial 5 demonstrated that oral HRT does not provide cardiovascular benefit or even some evidence of cardiovascular harm.

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“…The PROGINS (or variants in which it is in perfect linkage disequilibrium) has been studied by many groups in relation to ovarian cancer risk. The results are, however, equivocal Manolitsas et al, 1997;Lancaster et al, 1998Lancaster et al, , 2003Spurdle et al, 2001;Tong et al, 2001;Agoulnik et al, 2004;Pearce et al, 2005;Terry et al, 2005;Romano et al, 2006). Pearce et al (2005), suggested that a variant 3 0 of the PGR (rs608995), in partial linkage disequilibrium with the PROGINS, might be a better marker of ovarian cancer risk, but this has not been confirmed by other investigators.…”

mentioning

confidence: 98%

Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis

Pearce

Gayther

et al. 2008

Br J Cancer

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There is evidence that progesterone plays a role in the aetiology of invasive epithelial ovarian cancer. Therefore, genes involved in pathways that regulate progesterone may be candidates for susceptibility to this disease. Previous studies have suggested that genetic variants in the progesterone receptor gene (PGR) may be associated with ovarian cancer risk, although results have been inconsistent. We have established an international consortium to pool resources and data from many ovarian cancer case -control studies in an effort to identify variants that influence risk. In this study, three PGR single nucleotide polymorphisms (SNPs), for which previous data have suggested they affect ovarian cancer risk, were examined. These were þ 331 C/T (rs10895068), PROGINS (rs1042838), and a 3 0 variant (rs608995). A total of 4788 ovarian cancer cases and 7614 controls from 12 case -control studies were included in this analysis. Unconditional logistic regression was used to model the association between each SNP and ovarian cancer risk and twosided P-values are reported. Overall, risk of ovarian cancer was not associated with any of the three variants studied. However, in histopathological subtype analyses, we found a statistically significant association between risk of endometrioid ovarian cancer and the PROGINS allele (n ¼ 651, OR ¼ 1.17, 95% CI ¼ 1.01 -1.36, P ¼ 0.036). We also observed borderline evidence of an association between risk of endometrioid ovarian cancer and the þ 331C/T variant (n ¼ 725 cases; OR ¼ 0.80, 95% CI 0.62 -1.04, P ¼ 0.100). These data suggest that while these three variants in the PGR are not associated with ovarian cancer overall, the PROGINS variant may play a modest role in risk of endometrioid ovarian cancer.

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Analysis of the human progesterone receptor gene polymorphism progins in Austrian ovarian carcinoma patients

Cited by 40 publications

References 9 publications

Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI

Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI

Estrogen receptor 2 and progesterone receptor gene polymorphisms and lipid levels in women with different hormonal status

Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis

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