Endométriose et génétique : les gènes sont-ils responsables de la maladie ?

Borghese, Bruno; Vaiman, Daniel; Ziegler, Dominique de; Chapron, Charles

doi:10.1016/j.jgyn.2010.03.006

Cited by 12 publications

(3 citation statements)

References 126 publications

(138 reference statements)

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“…In endometriosis, a metastatic benign disease [14], endometriotic cells display an increase in endogenous oxidative stress with ROS produced in excess and failures in ROS detoxification pathways [15,16]. In neoplastic conditions, the intracellular redox status controls tumor cell proliferation [17,18], and enhances the metastatic potential of tumor cells [19].…”

Section: Introductionmentioning

confidence: 99%

Increased Serum Oxidative Stress Markers in Women with Uterine Leiomyoma

et al. 2013

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BackgroundUterine leiomyomas (fibroids) are the most common gynaecological benign tumors in premenopausal women. Evidences support the role of oxidative stress in the development of uterine leiomyoma. We have analysed oxidative stress markers (thiols, advanced oxidized protein products (AOPP), protein carbonyls and nitrates/nitrites) in preoperative sera from women with histologically proven uterine leiomyoma.Methodology/Principal FindingsWe conducted a laboratory study in a tertiary-care university hospital. Fifty-nine women with histologically proven uterine leiomyoma and ninety-two leiomyoma-free control women have been enrolled in this study. Complete surgical exploration of the abdominopelvic cavity was performed in each patient. Preoperative serum samples were obtained from all study participants to assay serum thiols, AOPP, protein carbonyls and nitrates/nitrites.Concentrations of serum protein carbonyl groups and AOPP were higher in leiomyoma patients than in the control group (p=0.005 and p<0.001, respectively). By contrast, serum thiol levels were lower in leiomyoma patients (p<0.001). We found positive correlations between serum AOPP concentrations and total fibroids weight (r=0.339; p=0.028), serum AOPP and serum protein carbonyls with duration of infertility (r=0.762; p=0.006 and r=0.683; p=0.021, respectively).Conclusions/SignificanceThis study, for the first time, reveals a significant increase of protein oxidative stress status and reduced antioxidant capacity in sera from women with uterine leiomyoma.

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Section: Introductionmentioning

confidence: 99%

Increased Serum Oxidative Stress Markers in Women with Uterine Leiomyoma

et al. 2013

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“…201 It is characterized by inflammation, excessive production of estrogens, and progesterone resistance. 202 Others categorized this as a complex disease influenced by genetic, epigenetic, and environmental factors. 203 Endometriosis is also considered a neoplastic disease, more precisely, a benign metastatic disease closely linked to cancer but with limited malignant transformation, likely by systematic repression of the genes involved in the cell cycle and regulation of the HOX genes.…”

Section: Female Infertilitymentioning

confidence: 99%

“…203 Endometriosis is also considered a neoplastic disease, more precisely, a benign metastatic disease closely linked to cancer but with limited malignant transformation, likely by systematic repression of the genes involved in the cell cycle and regulation of the HOX genes. 202 Although endometriosis is a benign disorder, the process by which endometrial cells attach and invade surfaces shares features of malignant neoplasm. Other features shared by endometriosis and cancer are the ability to evade apoptosis, the stem cell-like ability, and angiogenic potential.…”

Section: Female Infertilitymentioning

confidence: 99%

The Genetic and Genomic Landscape of Human Reproductive Disorders: An Overview with Our Experience

Halder

Sharma²,

Rana³

et al. 2023

MRAJ

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Genetics and genomics play a role in the causation of various human diseases. A large number of human reproductive disorders also arise as a result of genetic and genomic abnormalities. Reproductive disorders associated with predominantly genetics and genomic abnormalities are infertility, early pregnancy loss, congenital malformations, difference or disorder of sex development and reproductive cancers. The genetic etiology of human reproductive disorders is increasing with improved molecular biology techniques such as DNA microarray and next-generation sequencing. Infertility is one of the significant areas of reproductive disorders where genetics/genomics plays a substantial role and may result from chromosomal, copy number variation, Yq & pseudo autosomal region microdeletion/microduplication, gene mutation (monogenic, oligogenic, polygenic), multifactorial, epigenetic, mitochondrial, etc. abnormalities. All idiopathic infertile couples should be screened for genetic disorders before assisted reproduction to prevent transmission, if any, in offspring. Pregnancy wastage in early pregnancy is very high (about 70%) and is mainly related to chromosome number, copy number variation, and some monogenic or epigenetic abnormalities. Therefore, all early pregnancy loss cases should also be tested for genetic causes. Congenital malformations are structural defects in embryo, fetus, or newborns and affect about 3% (major malformations) of all births. The malformations could be due to the abnormalities of chromosomes, copy number variation, monogenic, oligogenic, multifactorial, or environmental. Array CGH &/or NGS should be used as the first step to screen congenital malformations. Differences/disorder of sex development is a developmental defect in which the determination and/or differentiation of chromosomal, gonadal, or phenotypic/anatomic sex is abnormal. It is a common disorder and is primarily related to genetic abnormalities. Therefore, a precise diagnosis, mainly through an array CGH and/or NGS, is crucial for the proper management to prevent future psychosexual problems and another birth with the disorder. Cancer is a genomic disorder characterized by genomic instability (due to a defect in DNA repair mechanism), uncontrolled replication (due to lack of response to inhibitory factors/loss of contact inhibition), neo-angiogenesis, invasion and metastasis. All cancer cases should be investigated for genomic markers (both hereditary and somatic) for precise diagnosis, prognosis, and genetic counseling. In this review, we will try to evaluate the role of genetics and genomics in the above-mentioned reproductive disorders, along with genetic & genomic techniques used and reproductive counseling in addition to our experiences.

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Association of the progesterone receptor gene polymorphism (PROGINS) with endometriosis: a meta-analysis

Pabalan

Salvador

Jarjanazi

et al. 2014

Arch Gynecol Obstet

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This meta-analysis provides a comprehensive profile of the role of the PROGINS polymorphism in endometriosis by exploring the magnitude of the summary effects with modifier analysis. This magnitude is expressed with modulation or exacerbation of the summary effects, as defined by the parameters of the analysis. Thus, the results showed trend towards an increased risk of the variant PROGINS allele and susceptibility for the endometriosis.

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Endométriose et génétique : les gènes sont-ils responsables de la maladie ?

Cited by 12 publications

References 126 publications

Increased Serum Oxidative Stress Markers in Women with Uterine Leiomyoma

Increased Serum Oxidative Stress Markers in Women with Uterine Leiomyoma

The Genetic and Genomic Landscape of Human Reproductive Disorders: An Overview with Our Experience

Association of the progesterone receptor gene polymorphism (PROGINS) with endometriosis: a meta-analysis

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