Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Anogenital distance as a marker of androgen exposure in humans

A Thankamony, V Pasterski, KK Ong, CL Acerini… - …, 2016 - Wiley Online Library
Abnormal foetal testis development has been proposed to underlie common disorders of the
male reproductive system such as cryptorchidism, hypospadias, reduced semen quality and …

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 …

Using human genetics to understand the disease impacts of testosterone in men and women

KS Ruth, FR Day, J Tyrrell, DJ Thompson, AR Wood… - Nature medicine, 2020 - nature.com
Testosterone supplementation is commonly used for its effects on sexual function, bone
health and body composition, yet its effects on disease outcomes are unknown. To better …

[HTML][HTML] Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

F Day, T Karaderi, MR Jones, C Meun, C He… - PLoS …, 2018 - journals.plos.org
Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism,
ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have …

[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 …

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal …

RN Beaumont, NM Warrington… - Human molecular …, 2018 - academic.oup.com
Genome-wide association studies of birth weight have focused on fetal genetics, whereas
relatively little is known about the role of maternal genetic variation. We aimed to identify …

[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 …

[HTML][HTML] Deciphering genetic causes for sex differences in human health through drug metabolism and transporter genes

Y Huang, Y Shan, W Zhang, AM Lee, F Li… - Nature …, 2023 - nature.com
Sex differences have been widely observed in human health. However, little is known about
the underlying mechanism behind these observed sex differences. We hypothesize that sex …

[HTML][HTML] 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 …