Familial inheritance of endometriosis in a British population. A case control study

Coxhead, Dawn; Thomas, Eileen

doi:10.3109/01443619309151773

Cited by 80 publications

(32 citation statements)

References 2 publications

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“…The condition causes infertility and/or pelvic pain in 10-15% of premenopausal women. Epidemiological findings have shown familial tendency with increased risk (6.9%) and severity of endometriosis in first degree relatives of probands, as well as increased concordance in twins (Frey and Bluefield 1957;Ranney 1971;Simpson et al 1980;Lamb et al 1986;Coxhead and Thomas 1993;Moen and Magnus 1993;Moen 1994;Kennedy et al 1995). More strikingly, endometriosis displays similar characteristics to malignancy, including unregulated growth of the cells lining the endometrium and localized invasion of tissues outside the uterine cavity (eg., ovary, cul-de-sac, uterosacral and posterior ligaments).…”

Section: Introductionmentioning

confidence: 90%

Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)

et al. 1997

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Endometriosis affects 10-15% of women of reproductive age and is a common cause of infertility and pelvic pain. Although endometriosis is characterized by abnormal growth or turn-over of cells, the genetic changes involved remain unclear. We employed a multi-color fluorescence in situ hybridization (FISH) strategy to determine the incidence of somatic chromosomal numeric alterations in severe/late stage endometriosis. Using alpha-satellite sequence-specific DNA probes for chromosomes 7, 8, 11, 12, 16, 17, and 18, simultaneous two- and three-color FISH were performed to evaluate the frequency of monosomic, disomic, and trisomic cells in normal control and endometriotic tissue specimens. In one of four endometriosis samples studied, a significantly higher frequency of monosomy for chromosome 17 (14.8%, chi 2(4) = 53.3, P < 0.0001) and 16 (8.8%, chi 2(4) = 11.4, P < 0.05) was observed. An increased number of cells with chromosome 11 trisomy (14.8%, chi 2(4) = 96.2, P < 0.0001) were detected in a second case. In a third case, a distinct colony of nuclei with chromosome 16 monosomy (14.1%, chi 2(4) = 21.39, P < 0.005) was detected. Acquired chromosome-specific aneuploidy may be involved in endometriosis, reflecting clonal expansion of chromosomally abnormal cells. That candidate tumor suppressor genes and oncogenes have been mapped to chromosomes 11, 16, and 17 suggests that chromosomal loss or gain plays a role in the development and/or progression of endometriosis.

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Section: Introductionmentioning

confidence: 90%

Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)

et al. 1997

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“…The argument for a genetic factor in the aetiology of endometriosis is strong in both humans and nonhuman primates [133,134]. The age of onset of pain symptoms is identical in non-twin sisters concordant for endometriosis [135], and there is an increased prevalence among sisters of affected women compared to the general population [136][137][138]. We therefore believe that ultimately the identification of susceptibility genes could prove to be the best way of identifying those molecular and cellular mechanisms that are aberrant in endometriosis.…”

Section: Conclusion and Discussionmentioning

confidence: 99%

Pathogenesis of Endometriosis: The Role of Peritoneal Fluid

Koninckx

Kennedy

1999

Gynecol Obstet Invest

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Peritoneal fluid is a specific microenvironment. It originates mainly as an ovarian exudation product due to increased vascular permeability, and contains large amounts of macrophages and their secretion products, which include growth factors, cytokines and angiogenic factors. Similarly, within the ovary, there is also a specific microenvironment, best characterised by the follicular milieu with steroid hormone concentrations that are 1,000 times higher than in plasma. Since endometrial cells in peritoneal fluid and superficially implanted cells will be influenced by peritoneal fluid concentrations, any differences found between minimal endometriosis and eutopic endometrium could be the consequence of their different local environments, rather than inherent cellular differences. Superficial endometrial implants may be regulated by factors in peritoneal fluid, while deep endometriosis and cystic ovarian endometriosis may be under the influence of factors in blood and within the ovary, in which case minimal endometriosis may be physiologic only, while deep endometriosis and cystic ovarian endometriosis, both associated with pelvic pain and infertility, may be a pathological state. In conclusion, the local endocrine environment, that is, in blood, peritoneal fluid, and within the ovary, should be taken into account to explain the differences between superficial, deep and cystic ovarian endometriosis, together with inherent differences in the endometrial cells of women with and without endometriosis.

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“…It is commonly accepted that the aetiology of endometriosis has a genetic component (Kennedy et al, 1996;Simpson and Bischoff, 2003;Zondervan et al, 2001a). Family-based studies have shown a 3-9 times increased risk among female first-degree relatives of endometriosis cases versus controls (Coxhead and Thomas, 1993;Lamb et al, 1986;Moen and Magnus, 1993;Simpson et al, 1980). The heritability of endometriosis has been estimated at 51% in an Australian twin sample comprising 2694 women (Treloar et al, 1999b).…”

Section: Introductionmentioning

confidence: 97%

Multivariate Genetic Analysis of Chronic Pelvic Pain and Associated Phenotypes

et al. 2005

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Chronic pelvic pain (CPP) is a common condition in women that is difficult to diagnose. Although heritability estimates have been published for some conditions potentially underlying pelvic pain, the heritability of CPP itself has never been investigated. Using data from 623 MZ and 377 DZ female twin pairs aged 29-50 from an Australian twin cohort, we found an increased CPP concordance among MZs compared to DZs, with tetrachoric correlations of 0.43 (95% CI: 0.26-0.58) and 0.11 (95% CI: -0.16-0.38), respectively. This corresponded to a heritability of 0.41 (95% CI: 0.25-0.56). Lack of correlations with environmental indicators suggested that violation of the equal environments assumption was not responsible for this effect. Multivariate Cholesky decomposition models incorporating CPP and significantly correlated phenotypes showed that the entire CPP heritability could be explained by genetic variance underlying endometriosis (38%), dysmenorrhoea (23%), fibroids (24%), and somatic distress (15%), the latter a possible indicator of increased nociception. CPP itself is unlikely to be a useful independent phenotype to conduct genetic aetiological studies; contributing conditions such as endometriosis and variation in nociception are likely to provide more useful phenotypes.

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Familial inheritance of endometriosis in a British population. A case control study

Cited by 80 publications

References 2 publications

Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)

Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)

Pathogenesis of Endometriosis: The Role of Peritoneal Fluid

Multivariate Genetic Analysis of Chronic Pelvic Pain and Associated Phenotypes

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