[HTML][HTML] The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

N Rahmioglu, S Mortlock, M Ghiasi, PL Møller… - Nature …, 2023 - nature.com
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …

[HTML][HTML] Genetic, epigenetic, and steroidogenic modulation mechanisms in endometriosis

A Zubrzycka, M Zubrzycki, E Perdas… - Journal of clinical …, 2020 - mdpi.com
Endometriosis is a chronic gynecological disease, affecting up to 10% of reproductive-age
women. The exact cause of the disease is unknown; however, it is a heritable condition …

[HTML][HTML] Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

Y Sapkota, V Steinthorsdottir, AP Morris… - Nature …, 2017 - nature.com
Endometriosis is a heritable hormone-dependent gynecological disorder, associated with
severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely …

[HTML][HTML] Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

CS Gallagher, N Mäkinen, HR Harris… - Nature …, 2019 - nature.com
Uterine leiomyomata (UL) are the most common neoplasms of the female reproductive tract
and primary cause for hysterectomy, leading to considerable morbidity and high economic …

[PDF][PDF] A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

S Mortlock, RI Corona, PF Kho, P Pharoah, JH Seo… - Cell Reports …, 2022 - cell.com
Endometriosis is associated with increased risk of epithelial ovarian cancers (EOCs). Using
data from large endometriosis and EOC genome-wide association meta-analyses, we …

[PDF][PDF] An osteoporosis risk SNP at 1p36. 12 acts as an allele-specific enhancer to modulate LINC00339 expression via long-range loop formation

XF Chen, DL Zhu, M Yang, WX Hu, YY Duan… - The American Journal of …, 2018 - cell.com
Genome-wide association studies (GWASs) have reproducibly associated variants within
intergenic regions of 1p36. 12 locus with osteoporosis, but the functional roles underlying …

Long noncoding RNA Linc00339 promotes triple‐negative breast cancer progression through miR‐377‐3p/HOXC6 signaling pathway

X Wang, T Chen, Y Zhang, N Zhang… - Journal of Cellular …, 2019 - Wiley Online Library
Recently, long noncoding RNAs (lncRNAs) have become the key gene regulators and
prognostic biomarkers in various cancers. Through microarray data, Linc00339 was …

New concepts on the etiology of endometriosis

FL Cousins, BD McKinnon, S Mortlock… - Journal of Obstetrics …, 2023 - Wiley Online Library
Endometriosis is a serious, chronic disorder where endometrial tissue grows outside the
uterus, causing severe pelvic pain and infertility. It affects 11% of women. Endometriosis is a …

Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

N Välimäki, H Kuisma, A Pasanen, O Heikinheimo… - Elife, 2018 - elifesciences.org
Uterine leiomyomas (ULs) are benign tumors that are a major burden to women's health. A
genome-wide association study on 15,453 UL cases and 392,628 controls was performed …