Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?
Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?
复制标题
现在是否应该将遗传学视为子宫内膜异位症的杰出病因学因素？
DOI：
10.1016/j.jmig.2019.10.020
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发表时间：
2020-02
影响因子：
4.1
通讯作者：
Giudice LC
中科院分区：
文献类型：
--
作者：
Montgomery GW;Mortlock S;Giudice LC
子宫内膜异位症是一种常见的雌激素依赖性炎症性疾病，其特征是子宫外部位的子宫内膜样组织生长。其发病机制和病理生理学基础尚不清楚，尽管遗传变异与这些过程密切相关。遗传学研究表明，大约50%的子宫内膜异位症风险是由遗传因素引起的，另外50%的风险可能是由环境因素引起的。与大多数单基因疾病不同，与其他复杂疾病一样，DNA序列中的遗传变异会增加子宫内膜异位症的风险，它们的影响都很小。正是这些变种的组合加在一起，导致了女性个体更高的风险。此外，最近关于疾病损害的数据显示，体细胞(可能是获得性的)突变频率很高，其中一些突变存在于在位内膜，特别是在上皮细胞间隔中，这增加了在位内膜异常上皮祖细胞导致异位疾病的可能性。在这一领域的发现正在迅速进行，预计不久将进一步定义遗传(生殖系)和环境(躯体)对这种疾病的发病机制和病理生理学的贡献。预计这些发现将增加诊断、治疗和预防战略，将疾病及其相关发病率降至最低。
Endometriosis is a common, estrogen-dependent, inflammatory disorder characterized by the growth of endometrial-like tissue at extrauterine locations. Its pathogenesis and mechanisms underlying its pathophysiology are poorly understood, although genetic variation is strongly implicated in these processes. Genetic studies reveal that approximately 50% of risk for endometriosis is due to genetic factors and the other 50% likely owing to environmental factors. As with other complex diseases, genetic variants in the DNA sequence increasing endometriosis risk all have small effects, unlike most single-gene disorders. It is the combinations of these variants adding together that contribute to higher risks for individual women. In addition, recent data on disease lesions demonstrate a high frequency of somatic (likely acquired) mutations, some of which are present in the eutopic endometrium and specifically in the epithelial cell compartment, raising the possibility that abnormal epithelial progenitors in the eutopic endometrium give rise to ectopic disease. Discovery in this field is occurring at a rapid pace, and further definitions of genetic (germline) and environmental (somatic) contributions to the pathogenesis and pathophysiology of this disorder are anticipated soon. These discoveries are expected to increase diagnostic, therapeutic, and preventive strategies to minimize disease and its associated morbidities.
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影响因子：
30.8
作者：
通讯作者：
--
影响因子：
3.7
作者：
Albertsen HM;Chettier R;Farrington P;Ward K
通讯作者：
Ward K
影响因子：
5.3
作者：
Gajbhiye R;Fung JN;Montgomery GW
通讯作者：
Montgomery GW
DOI：
10.1056/nejmoa1614814
发表时间：
2017-05-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Anglesio MS;Papadopoulos N;Ayhan A;Nazeran TM;Noë M;Horlings HM;Lum A;Jones S;Senz J;Seckin T;Ho J;Wu RC;Lac V;Ogawa H;Tessier-Cloutier B;Alhassan R;Wang A;Wang Y;Cohen JD;Wong F;Hasanovic A;Orr N;Zhang M;Popoli M;McMahon W;Wood LD;Mattox A;Allaire C;Segars J;Williams C;Tomasetti C;Boyd N;Kinzler KW;Gilks CB;Diaz L;Wang TL;Vogelstein B;Yong PJ;Huntsman DG;Shih IM
通讯作者：
Shih IM
影响因子：
6.1
作者：
Stefanson, H;Geirsson, RT;Stefansson, K
通讯作者：
Stefansson, K