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Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

ABSTRACT: BACKGROUND: Endometriosis has a strong genetic component, and numerous genetic studies have been reported. METHODS: We have systematically reviewed these studies and included 114 in our final selection. RESULTS: We found no consistent evidence linking endometriosis with specific polymorphisms in genes encoding inflammatory mediators, proteins involved in sex steroid metabolism, vascular function and tissue remodelling. Although a number of polymorphisms have been associated with endometriosis in selected populations, the associations have not been independently confirmed, either because only single studies were carried out on these markers/genes or because other studies reported no association. The most solid evidence linking specific polymorphisms to endometriosis came from studies investigating glutathione-S-transferase, a phase II detoxification enzyme. Carriage of the GSTT1 null deletion variant showed consistent association with endometriosis with a 29% increased risk; however, it cannot be excluded that this result was due to publication bias, and this association should be independently confirmed in large-scale, well-designed case-control studies. CONCLUSIONS: The evidence of an association between genetic polymorphisms and endometriosis is weak. Carriage of the GSTT1 null deletion may moderately increase the risk of this disease. We suggest that the methodology of association studies should be improved in order to identify and validate associations in endometriosis.

SUBMITTER: Tempfer CB

PROVIDER: S-EPMC2639061 | biostudies-literature | 2009 Jan-Feb

REPOSITORIES: biostudies-literature

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Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

Tempfer C B CB Simoni M M Destenaves B B Fauser B C J M BC

Human reproduction update 20080919 1

<h4>Background</h4>Endometriosis has a strong genetic component, and numerous genetic studies have been reported.<h4>Methods</h4>We have systematically reviewed these studies and included 114 in our final selection.<h4>Results</h4>We found no consistent evidence linking endometriosis with specific polymorphisms in genes encoding inflammatory mediators, proteins involved in sex steroid metabolism, vascular function and tissue remodelling. Although a number of polymorphisms have been associated wi ...[more]

PMID: 18805939

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Project description:BackgroundEpidemiological studies suggest that singletons born from assisted reproductive technologies (ART) have a high risk of adverse perinatal outcomes, specifically for imprinting disorders. Because ART processes take place at times when epigenetic reprogramming/imprinting are occurring, there is concern that ART can affect genomic imprints. However, little is currently known about the risk of imprinting defects according to the type of ART or the type of underlying female infertility. From the French national health database, a cohort of 3,501,495 singletons born over a 5-year period (2013-2017) following fresh embryo or frozen embryo transfers (fresh-ET or FET from in vitro fertilization), intrauterine insemination, or natural conception was followed up to early childhood. Based on clinical features, several syndromes/diseases involving imprinted genes were monitored. The effects of ART conception and the underlying cause of female infertility were assessed.ResultsCompared with infants conceived naturally, children born after fresh-ET had a higher prevalence of imprinting-related diseases, with an aOR of 1.43 [95% CI 1.13-1.81, p = 0.003]. Namely, we observed an increased risk of neonatal diabetes mellitus (1.96 aOR [95% CI 1.43-2.70], p < 0.001). There was an overall independent increase in risk of imprinting diseases for children with mothers diagnosed with endometriosis (1.38 aOR [95% CI 1.06-1.80], p = 0.02). Young and advanced maternal age, primiparity, obesity, smoking, and history of high blood pressure or diabetes were also associated with high global risk.ConclusionsThis prospective epidemiological study showed that the risk of clinically diagnosed imprinting-related diseases is increased in children conceived after fresh embryo transfers or from mothers with endometriosis. The increased perturbations in genomic imprinting could be caused by controlled ovarian hyperstimulation and potentially endometriosis through the impairment of endometrial receptivity and placentation, leading to epigenetic feto-placental changes. Further studies are now needed to improve understanding of the underlying molecular mechanisms (i.e. genetic or epigenetic causes).

Project description:STUDY QUESTION:How should surgery for endometriosis be performed? SUMMARY ANSWER:This document provides recommendations covering technical aspects of different methods of surgery for deep endometriosis in women of reproductive age. WHAT IS KNOWN ALREADY:Endometriosis is highly prevalent and often associated with severe symptoms. Yet compared to equally prevalent conditions, it is poorly understood and a challenge to manage. Previously published guidelines have provided recommendations for (surgical) treatment of deep endometriosis, based on the best available evidence, but without technical information and details on how to best perform such treatment in order to be effective and safe. STUDY DESIGN SIZE DURATION:A working group of the European Society for Gynaecological Endoscopy (ESGE), ESHRE and the World Endometriosis Society (WES) collaborated on writing recommendations on the practical aspects of surgery for treatment of deep endometriosis. PARTICIPANTS/MATERIALS SETTING METHODS:This document focused on surgery for deep endometriosis and is complementary to a previous document in this series focusing on endometrioma surgery. MAIN RESULTS AND THE ROLE OF CHANCE:The document presents general recommendations for surgery for deep endometriosis, starting from preoperative assessments and first steps of surgery. Different approaches for surgical treatment are discussed and are respective of location and extent of disease; uterosacral ligaments and rectovaginal septum with or without involvement of the rectum, urinary tract or extrapelvic endometriosis. In addition, recommendations are provided on the treatment of frozen pelvis and on hysterectomy as a treatment for deep endometriosis. LIMITATIONS REASONS FOR CAUTION:Owing to the limited evidence available, recommendations are mostly based on clinical expertise. Where available, references of relevant studies were added. WIDER IMPLICATIONS OF THE FINDINGS:These recommendations complement previous guidelines on management of endometriosis and the recommendations for surgical treatment of ovarian endometrioma. STUDY FUNDING/COMPETING INTERESTS:The meetings of the working group were funded by ESGE, ESHRE and WES. Dr Roman reports personal fees from ETHICON, PLASMASURGICAL, OLYMPUS and NORDIC PHARMA, outside the submitted work; Dr Becker reports grants from Bayer AG, Volition Rx, MDNA Life Sciences and Roche Diagnostics Inc. and other relationships or activities from AbbVie Inc., and Myriad Inc, during the conduct of the study; Dr Tomassetti reports non-financial support from ESHRE, during the conduct of the study; and non-financial support and other were from Lumenis, Gedeon-Richter, Ferring Pharmaceuticals and Merck SA, outside the submitted work. The other authors had nothing to disclose. TRIAL REGISTRATION NUMBER:na.

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Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

Publications

Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

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