Genetics of endometriosis: State of the art on genetic risk factors for endometriosis

JN Fung, GW Montgomery - Best practice & research Clinical obstetrics & …, 2018 - Elsevier
Developments in high-throughput genotyping technology have driven discovery of genomic
regions associated with an increased risk of endometriosis. In all, 16 genomic regions have …

LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis

B Mei, Y Wang, W Ye, H Huang, Q Zhou, Y Chen, Y Niu… - Human Genetics, 2019 - Springer
Previous genome-wide linkage and association studies have identified an osteoporosis-
associated locus at 1p36 that harbors SNPs rs34920465 and rs6426749. The 1p36 locus …

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk …

PF Kho, S Mortlock, J Yang, R Digna, M Nyegaard… - Human genetics, 2021 - Springer
Endometriosis, polycystic ovary syndrome (PCOS) and uterine fibroids have been proposed
as endometrial cancer risk factors; however, disentangling their relationships with …

GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer

M Koel, U Võsa, M Jõeloo, K Läll… - Human Molecular …, 2023 - academic.oup.com
Genome-wide association studies (GWAS) have successfully identified associations for
cervical cancer, but the underlying mechanisms of cervical biology and pathology remain …

Genetic and epigenetic changes in the eutopic endometrium of women with endometriosis: association with decreased endometrial αvβ3 integrin expression

NR Joshi, HR Kohan-Ghadr… - Molecular Human …, 2021 - academic.oup.com
About 40% of women with infertility and 70% of women with pelvic pain suffer from
endometriosis. The pregnancy rate in women undergoing IVF with low endometrial integrin …

The role of long non-coding RNAs in endometriosis

QJ Hudson, K Proestling, A Perricos, L Kuessel… - International Journal of …, 2021 - mdpi.com
Endometriosis is a chronic gynecological disorder affecting the quality of life and fertility of
many women around the world. Heterogeneous and non-specific symptoms may lead to a …

Long noncoding RNAs in endometriosis: Biological functions, expressions, and mechanisms

X Wang, J Zhang, X Liu, B Wei… - Journal of cellular …, 2021 - Wiley Online Library
Endometriosis refers to a benign chronic gynecological disorder, and is defined as the
ectopic growth of endometrium in pelvic cavity. Endometriosis affects about 10% of …

[HTML][HTML] Identification of MKNK1 and TOP3A as ovarian endometriosis risk-associated genes using integrative genomic analyses and functional experiments

Y Huang, J Luo, Y Zhang, T Zhang, X Fei… - Computational and …, 2023 - Elsevier
The risk of endometriosis (EM), which is a common complex gynaecological disease, is
related to genetic predisposition. However, it is unclear how genetic variants confer the risk …

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

T Olafsdottir, G Thorleifsson, P Sulem… - Communications …, 2020 - nature.com
Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs,
resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide …

Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function

S Mortlock, S Houshdaran, I Kosti, N Rahmioglu… - Communications …, 2023 - nature.com
Endometriosis is a leading cause of pain and infertility affecting millions of women globally.
Herein, we characterize variation in DNA methylation (DNAm) and its association with …