Suppr超能文献

子宫内膜异位症中与不同疾病严重程度相关的遗传负担。

Genetic burden associated with varying degrees of disease severity in endometriosis.

作者信息

Sapkota Yadav, Attia John, Gordon Scott D, Henders Anjali K, Holliday Elizabeth G, Rahmioglu Nilufer, MacGregor Stuart, Martin Nicholas G, McEvoy Mark, Morris Andrew P, Scott Rodney J, Zondervan Krina T, Montgomery Grant W, Nyholt Dale R

机构信息

QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia

Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia Public Health Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia.

出版信息

Mol Hum Reprod. 2015 Jul;21(7):594-602. doi: 10.1093/molehr/gav021. Epub 2015 Apr 16.

Abstract

Endometriosis is primarily characterized by the presence of tissue resembling endometrium outside the uterine cavity and is usually diagnosed by laparoscopy. The most commonly used classification of disease, the revised American Fertility Society (rAFS) system to grade endometriosis into different stages based on disease severity (I to IV), has been questioned as it does not correlate well with underlying symptoms, posing issues in diagnosis and choice of treatment. Using two independent European genome-wide association (GWA) datasets and top-level classification of the endometriosis cases based on rAFS [minimal or mild (Stage A) and moderate-to-severe (Stage B) disease], we previously showed that Stage B endometriosis has greater contribution of common genetic variation to its aetiology than Stage A disease. Herein, we extend our previous analysis to four endometriosis stages [minimal (Stage I), mild (Stage II), moderate (Stage III) and severe (Stage IV) disease] based on the rAFS classification system and compared the genetic burden across stages. Our results indicate that genetic burden increases from minimal to severe endometriosis. For the minimal disease, genetic factors may contribute to a lesser extent than other disease categories. Mild and moderate endometriosis appeared genetically similar, making it difficult to tease them apart. Consistent with our previous reports, moderate and severe endometriosis showed greater genetic burden than minimal or mild disease. Overall, our results provide new insights into the genetic architecture of endometriosis and further investigation in larger samples may help to understand better the aetiology of varying degrees of endometriosis, enabling improved diagnostic and treatment modalities.

摘要

子宫内膜异位症的主要特征是子宫腔外存在类似子宫内膜的组织,通常通过腹腔镜检查进行诊断。最常用的疾病分类方法,即修订后的美国生育协会(rAFS)系统,根据疾病严重程度(I至IV期)对子宫内膜异位症进行分级,但由于其与潜在症状的相关性不佳,在诊断和治疗选择方面存在问题,因此受到质疑。我们此前利用两个独立的欧洲全基因组关联(GWA)数据集,并基于rAFS对子宫内膜异位症病例进行顶级分类[轻微或轻度(A期)和中度至重度(B期)疾病],发现B期子宫内膜异位症在病因学上比A期疾病受常见基因变异的影响更大。在此,我们基于rAFS分类系统将之前的分析扩展至四个子宫内膜异位症阶段[轻微(I期)、轻度(II期)、中度(III期)和重度(IV期)疾病],并比较了各阶段的遗传负担。我们的结果表明,遗传负担从轻微到重度子宫内膜异位症逐渐增加。对于轻微疾病,遗传因素的作用程度可能低于其他疾病类别。轻度和中度子宫内膜异位症在遗传上似乎相似,难以区分。与我们之前的报告一致,中度和重度子宫内膜异位症的遗传负担比轻微或轻度疾病更大。总体而言,我们的结果为子宫内膜异位症的遗传结构提供了新的见解,在更大样本中进行进一步研究可能有助于更好地理解不同程度子宫内膜异位症的病因,从而改进诊断和治疗方式。

相似文献

1
Genetic burden associated with varying degrees of disease severity in endometriosis.
Mol Hum Reprod. 2015 Jul;21(7):594-602. doi: 10.1093/molehr/gav021. Epub 2015 Apr 16.
3
4
Panel of Autoimmune Markers for Noninvasive Diagnosis of Minimal-Mild Endometriosis.
Reprod Sci. 2017 Mar;24(3):413-420. doi: 10.1177/1933719116657190. Epub 2016 Sep 27.
5
Association between endometriosis and the interleukin 1A (IL1A) locus.
Hum Reprod. 2015 Jan;30(1):239-48. doi: 10.1093/humrep/deu267. Epub 2014 Oct 21.
7
Somatic PTEN and ARID1A loss and endometriosis disease burden: a longitudinal study.
Hum Reprod. 2025 Feb 1;40(2):296-309. doi: 10.1093/humrep/deae269.

引用本文的文献

1
Interaction between genetic risk and comorbid conditions in endometriosis.
HGG Adv. 2025 May 13;6(3):100456. doi: 10.1016/j.xhgg.2025.100456.
2
Endometriosis and Infertility: Gynecological Examination Practical Guide.
J Clin Med. 2025 Mar 12;14(6):1904. doi: 10.3390/jcm14061904.
4
New concepts on the etiology of endometriosis.
J Obstet Gynaecol Res. 2023 Apr;49(4):1090-1105. doi: 10.1111/jog.15549. Epub 2023 Feb 6.
5
Polygenic Risk Score Prediction for Endometriosis.
Front Reprod Health. 2021 Dec 17;3:793226. doi: 10.3389/frph.2021.793226. eCollection 2021.
7
Insights from genomic studies on the role of sex steroids in the aetiology of endometriosis.
Reprod Fertil. 2022 Apr 4;3(2):R51-R65. doi: 10.1530/RAF-21-0078. eCollection 2022 Apr 1.
8
Epigenetic Factors in Eutopic Endometrium in Women with Endometriosis and Infertility.
Int J Mol Sci. 2022 Mar 30;23(7):3804. doi: 10.3390/ijms23073804.
9
Validity of self-reported endometriosis: a comparison across four cohorts.
Hum Reprod. 2021 Apr 20;36(5):1268-1278. doi: 10.1093/humrep/deab012.
10
Characterization of exosomes in peritoneal fluid of endometriosis patients.
Fertil Steril. 2020 Feb;113(2):364-373.e2. doi: 10.1016/j.fertnstert.2019.09.032.

本文引用的文献

1
Association between endometriosis and the interleukin 1A (IL1A) locus.
Hum Reprod. 2015 Jan;30(1):239-48. doi: 10.1093/humrep/deu267. Epub 2014 Oct 21.
2
Treatment of pelvic pain associated with endometriosis: a committee opinion.
Fertil Steril. 2014 Apr;101(4):927-35. doi: 10.1016/j.fertnstert.2014.02.012. Epub 2014 Mar 13.
3
Power and predictive accuracy of polygenic risk scores.
PLoS Genet. 2013 Mar;9(3):e1003348. doi: 10.1371/journal.pgen.1003348. Epub 2013 Mar 21.
4
Consensus on current management of endometriosis.
Hum Reprod. 2013 Jun;28(6):1552-68. doi: 10.1093/humrep/det050. Epub 2013 Mar 25.
6
Genome-wide association meta-analysis identifies new endometriosis risk loci.
Nat Genet. 2012 Dec;44(12):1355-9. doi: 10.1038/ng.2445. Epub 2012 Oct 28.
7
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Nat Genet. 2011 Jan;43(1):51-4. doi: 10.1038/ng.731. Epub 2010 Dec 12.
8
A prospective study of dietary fat consumption and endometriosis risk.
Hum Reprod. 2010 Jun;25(6):1528-35. doi: 10.1093/humrep/deq044. Epub 2010 Mar 23.
9
High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome.
Fam Cancer. 2010 Sep;9(3):383-7. doi: 10.1007/s10689-010-9321-1.
10
Cohort profile: The Hunter Community Study.
Int J Epidemiol. 2010 Dec;39(6):1452-63. doi: 10.1093/ije/dyp343. Epub 2010 Jan 7.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验