Cardiac cell type–specific gene regulatory programs and disease risk association

JD Hocker, OB Poirion, F Zhu, J Buchanan, K Zhang… - Science …, 2021 - science.org
Misregulated gene expression in human hearts can result in cardiovascular diseases that
are leading causes of mortality worldwide. However, the limited information on the genomic …

BRCA-related ATM-mediated DNA double-strand break repair and ovarian aging

V Turan, K Oktay - Human reproduction update, 2020 - academic.oup.com
BACKGROUND Oocyte aging has significant clinical consequences, and yet no treatment
exists to address the age-related decline in oocyte quality. The lack of progress in the …

An atlas of genetic determinants of forearm fracture

M Nethander, S Movérare-Skrtic, A Kämpe, E Coward… - Nature Genetics, 2023 - nature.com
Osteoporotic fracture is among the most common and costly of diseases. While reasonably
heritable, its genetic determinants have remained elusive. Forearm fractures are the most …

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

N Barban, R Jansen, R De Vlaming, A Vaez… - Nature …, 2016 - nature.com
The genetic architecture of human reproductive behavior—age at first birth (AFB) and
number of children ever born (NEB)—has a strong relationship with fitness, human …

[HTML][HTML] Recent advances in understanding primary ovarian insufficiency

V Wesevich, AN Kellen, L Pal - F1000Research, 2020 - ncbi.nlm.nih.gov
Primary ovarian insufficiency (POI) is an uncommon yet devastating occurrence that results
from a premature depletion of the ovarian pool of primordial follicles. Our understanding of …

Association between genetically proxied inhibition of HMG-CoA reductase and epithelial ovarian cancer

J Yarmolinsky, CJ Bull, EE Vincent, J Robinson… - Jama, 2020 - jamanetwork.com
Importance Preclinical and epidemiological studies indicate a potential chemopreventive
role of statins in epithelial ovarian cancer risk. Objective To evaluate the association of …

Systematic review of Mendelian randomization studies on risk of cancer

G Markozannes, A Kanellopoulou, O Dimopoulou… - BMC medicine, 2022 - Springer
Background We aimed to map and describe the current state of Mendelian randomization
(MR) literature on cancer risk and to identify associations supported by robust evidence …

Breast cancer risk factors and their effects on survival: a Mendelian randomisation study

M Escala-Garcia, A Morra, S Canisius, J Chang-Claude… - BMC medicine, 2020 - Springer
Background Observational studies have investigated the association of risk factors with
breast cancer prognosis. However, the results have been conflicting and it has been …

Imprint of assortative mating on the human genome

L Yengo, MR Robinson, MC Keller, KE Kemper… - Nature human …, 2018 - nature.com
Preference for mates with similar phenotypes; that is, assortative mating, is widely observed
in humans,,,–and has evolutionary consequences,–. Under Fisher's classical theory …

[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 …