Endometriosis and Genetic Polymorphisms

Falconer, Henrik; D’Hooghe, Thomas; Fried, Gabriel

doi:10.1097/01.ogx.0000279293.60436.60

Cited by 92 publications

(76 citation statements)

References 105 publications

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“…Regardless of the polygenic inheritance established, the etiology of endometriosis remains unknown (Falconer et al, 2007;Hansen and Eyster, 2010). Various patterns of cell cycle alterations such as proliferation enhancement and diminished apoptosis have been described in the context of pathophysiology for both eutopic and ectopic endometria in affected women, suggesting that this tissue displays neoplastic behavior.…”

Section: Introductionmentioning

confidence: 99%

“…Endometriosis is a benign gynecological disease defined by the presence of functional endometrial implants outside of the uterus, primarily in the pelvis, that may cause inflammatory lesions (Ulukus et al, 2006;Falconer et al, 2007). Regardless of the polygenic inheritance established, the etiology of endometriosis remains unknown (Falconer et al, 2007;Hansen and Eyster, 2010).…”

Section: Introductionmentioning

confidence: 99%

“…Various patterns of cell cycle alterations such as proliferation enhancement and diminished apoptosis have been described in the context of pathophysiology for both eutopic and ectopic endometria in affected women, suggesting that this tissue displays neoplastic behavior. In addition, reported genetic polymorphisms may be responsible for the neoplastic phenotype of the endometrium and ectopic implants (Falconer et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

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TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

et al. 2014

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ABSTRACT. We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*72 Arg/Pro (CCG->CCC), and TP53*248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53*11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. The genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/ Lys); the homozygous variant genotype was not identified (P = 0.02). TP53*72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). The genotypic distribution in the endometriosis group was 16.15% homozygous wildtype (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53*248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53*72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

et al. 2014

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“…The latter theory is the most widely accepted. Endocrine, immune, and environmental factors have been also suggested to be involved in the pathogenesis (Falconer et al, 2007). In addition, a genetic factor, defined as a kinship factor, with maternal and paternal inheritance, appears to be involved in the susceptibility to disease (Stefansson et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

“…In addition, a genetic factor, defined as a kinship factor, with maternal and paternal inheritance, appears to be involved in the susceptibility to disease (Stefansson et al, 2002). More than 20 candidate genes, including transforming growth factor, interleukin, estrogen receptor, progesterone receptor, 17-β hydroxysteroid dehydrogenase, and growth factor genes, have been associated with endometriosis risk (Falconer et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Association between the epidermal growth factor gene polymorphism and endometriosis in women from Brazil

et al. 2014

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ABSTRACT. The aim of this study was to verify the association between the epidermal growth factor (EGF) +61 G/A polymorphism and the susceptibility to endometriosis using a case-control design study. The control group included fertile women without endometriosis and the case group included endometriosis patients. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the EGF +61 G/A polymorphism. Initially, a total of 184 individuals were analyzed. After matching by ethnicity, the control group was composed of 57 individuals, while the endometriosis group was composed of 57 patients. No statistically significant associations were observed between EGF +61 variants and the risk of endometriosis development (P > 0.05). This is the first study correlating the EFG

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Molecular Genetics of Endometriosis

Painter

Zondervan

Missmer

et al. 2011

Encyclopedia of Life Sciences

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Endometriosis is a gynaecological disease that affects 6–10% of women of reproductive age. Symptoms vary but commonly include severe menstrual and pelvic pain and infertility, all of which can have major impacts on the lives of affected women. Linkage studies have identified several chromosomal regions but the genes contributing to these linkage signals have yet to be identified. Candidate gene studies on over 80 genes have not shown robust evidence of association, mostly due to the limited power to detect individual risk variants of small effects. Four groups have now conducted genome‐wide association studies for endometriosis, revealing a number of intriguing candidates that may contribute to disease risk. Further research aimed at increasing our understanding of the genes and biological pathways underlying endometriosis may provide better and more targeted diagnosis and treatment options in the future. Key Concepts: Endometriosis is a gynaecological disease that occurs when tissue resembling endometrium (the tissue that lines the inside of the uterus) attaches and grows on organs in the body cavity, including the ovaries, fallopian tubes, intestine and bowel. Endometriosis affects 6–10% of women during their reproductive years and the symptoms, including severe menstrual and pelvic pain and sub‐ or infertility, can greatly impact an affected woman's physical and psychological wellbeing as well as her family and working life. The financial cost of endometriosis is amongst the highest of all complex diseases, with direct (medical and surgical treatment) and indirect (loss of income, reduced productivity, infertility treatment and social withdrawal) health care costs estimated at >$15 billion annually in the US alone. Linkage studies on large numbers of families have indicated chromosomal regions that may harbour endometriosis susceptibility genes but these are yet to be definitively identified. Candidate gene association studies on over 80 genes have not produced convincing evidence of gene robustly associated with endometriosis susceptibility. Genome‐wide association studies have identified a small number of chromosomal areas that harbour extremely interesting candidate genes that should be followed up in the future. Understanding the genes and biological pathways underlying susceptibility to endometriosis may eventually lead to better diagnostic and treatment options for women affected by this common and often debilitating disease.

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Endometriosis and Genetic Polymorphisms

Cited by 92 publications

References 105 publications

TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

Association between the epidermal growth factor gene polymorphism and endometriosis in women from Brazil

Molecular Genetics of Endometriosis

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