Association of estrogen receptor gene polymorphisms with endometriosis

Georgiou, Ioannis; Syrrou, Maria; Bouba, Ioanna; Dalkalitsis, N; Paschopoulos, Minas; Navrozoglou, Iordanis; Lolis, D.

doi:10.1016/s0015-0282(99)00198-3

Cited by 137 publications

(75 citation statements)

References 9 publications

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“…There is increasing evidence that endometriosis is inherited as a complex genetic trait, implying that multiple gene loci interact with both each other and the environment to produce the phenotype disease (Kennedy 1997). Recent genetic studies have found an association between the development of endometriosis and the polymorphisms of several genes (Cramer et al 1996;Baranova et al 1997;Watanabe et al 2001;Chang et al 2002;Wieser et al 2002;Hur et al 2005), including the genes related to estrogen metabolism (Georgiou et al 1999;Kitawaki et al 2001;Kado et al 2002).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

Hur

Lee

et al. 2007

J Hum Genet

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A variety of factors affect the development of endometriosis, including hormonal status and genetic factors. The growth of endometriosis is stimulated by local estrogen production in conjunction with circulating estrogen. The CYP19 gene encodes a steroid aromatase that catalyses the conversion of C-19 androgens to estrogens. This study investigated whether polymorphisms of the CYP19 gene are associated with the risk of advanced endometriosis in Korean women. Blood samples were collected from 224 female patients with endometriosis of stages III and IV, as diagnosed by both pathologic and laparoscopic findings, and from a control group comprising of 188 women undergoing laparoscopic surgery or laparotomy for nonmalignant lesions. Single-nucleotide polymorphisms, restriction fragment length polymorphisms, and tetranucleotide tandem repeat polymorphisms were discriminated by the polymerase chain reaction (PCR). Haplotype analysis was also performed. CYP19 115T>C, 240G>A, and 1531C>T polymorphisms and [TTTA]n tetranucleotide repeat polymorphisms in the CYP19 gene and their haplotypes were not significantly associated with the risk of endometriosis. The risk of endometriosis also did not increase significantly with the number of higher risk alleles of the CYP19 gene. In conclusion, our findings suggest that CYP19 genetic polymorphisms are not associated with advanced-stage endometriosis in Korean women.

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Section: Introductionmentioning

confidence: 99%

Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

Hur

Lee

et al. 2007

J Hum Genet

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“…Nonetheless, 2 of these SNP located in intron 1, the IVS1 2401 and IVS1 2354 A/G variants, have been associated with hormonally-related diseases including breast, [15][16][17][18][19] prostate 20 and endometrial 21 cancers. These same 2 SNP have also been associated with other estrogen-linked conditions, 22,23 as well as factors associated with increased breast cancer risk, such as age at menopause 24 and age at menarche. 25 In addition, increased bone mineral density, a potential surrogate marker of cumulative estrogen exposure and a predictor of breast cancer risk, 26 has also been associated with these SNP, 27,28 although not consistently.…”

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confidence: 97%

Association of estrogen receptor α polymorphisms with breast cancer risk in older Caucasian women

Modugno

Zmuda

Potter

et al. 2005

Intl Journal of Cancer

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Estrogens exert their effect on the breast through the estrogen receptor. We prospectively investigated breast cancer risk associated with 2 polymorphic sites in the estrogen receptor alpha gene (ESR1). A total of 4,248 Caucasian women from the Study of Osteoporotic Fractures were genotyped for the 2401 T/C and 2354 A/G polymorphisms in ESR1. Cox proportional hazards models were used to estimate hazard ratios (HR) and 95% confidence intervals (CI) for the associations between genotypes and breast cancer. During a mean follow-up of 12.4 years, 252 (5.9%) women developed breast cancer. The HR (95% CI) for breast cancer were 0.928 (0.708, 1.22) and 0.834 (0.538, 1.29) for the 2354 A/ G and A/A genotypes, respectively. Interactions with 2354 variant were observed for smoking (HR 5 1.52 and 1.56 for A/G and A/A smokers, respectively; HR 5 0.74 and 0.60 for A/G and A/A nonsmokers, respectively; interaction p 5 0.03) and walking (HR 5 0.75 and 1.15 for A/G and A/A walkers, respectively; HR 5 0.18 and 0.49 for A/G and A/A non-walkers, respectively; interaction p 5 0.01). There were no differences in the HR for the 2401 T/C genotypes. An interaction between parity and carriage of the T allele was found (HR 5 0.60 vs. 1.12 for nulliparous vs. parous women; interaction p 5 0.03). ESR1 polymorphisms in combination with lifestyle factors may be associated with breast cancer risk in older Caucasian women. ' 2005 Wiley-Liss, Inc.Key words: breast neoplasms; estrogen receptor; genetic polymorphisms; epidemiology; prospective cohort study The actions of estrogen, believed to be a causal factor in postmenopausal breast cancer, 1-4 are mediated by the estrogen receptors (ER). The ER has 2 major forms, a and b. 5,6 The ER-a (ESR1) is of interest in breast cancer because its expression has been associated with the disease. In particular, breast cancer occurs more often when ESR1 is over-expressed in adjacent normal epithelium. 7 Moreover, increased ESR1 expression in normal epithelium is found in older women, 8 as well as in Caucasian women compared to non-Caucasian 9 and Asian 8 women, reflecting age and ethnic-associated patterns of breast cancer risk. In addition, estrogen receptor status is a prognostic factor in breast cancer and a strong predictor of response to endocrine therapy. 10 The ESR1 gene contains several single nucleotide polymorphisms (SNP) 8,11-14 whose functional significance remains unknown. Nonetheless, 2 of these SNP located in intron 1, the IVS1 2401 and IVS1 2354 A/G variants, have been associated with hormonally-related diseases including breast, [15][16][17][18][19] prostate 20 and endometrial 21 cancers. These same 2 SNP have also been associated with other estrogen-linked conditions, 22,23 as well as factors associated with increased breast cancer risk, such as age at menopause 24 and age at menarche. 25 In addition, increased bone mineral density, a potential surrogate marker of cumulative estrogen exposure and a predictor of breast cancer risk, 26 has also been associated with these SNP, 27,28 although...

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“…[12][13][14] The ER alpha gene is located on chromosome 6q25.1. Its promoter region contains a polymorphic TA repeat that has been associated with coronary heart disease 15 in men, and bone mineral density 16 and endometriosis 17 in women.…”

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confidence: 99%

Association between a dinucleotide repeat polymorphism of the estrogen receptor alpha gene and personality traits in women

et al. 2003

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Association of estrogen receptor gene polymorphisms with endometriosis

Cited by 137 publications

References 9 publications

Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

Association of estrogen receptor α polymorphisms with breast cancer risk in older Caucasian women

Association between a dinucleotide repeat polymorphism of the estrogen receptor alpha gene and personality traits in women

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