Significance of single-nucleotide variants in long intergenic non-protein coding RNAs

H Zou, LX Wu, L Tan, FF Shang… - Frontiers in Cell and …, 2020 - frontiersin.org
Single-nucleotide variants (SNVs) are the most common genetic variants and universally
present in the human genome. Genome-wide association studies (GWASs) have identified a …

Mendelian randomization analysis identifies CpG sites as putative mediators for genetic influences on cardiovascular disease risk

TG Richardson, J Zheng, GD Smith, NJ Timpson… - The American Journal of …, 2017 - cell.com
The extent to which genetic influences on cardiovascular disease risk are mediated by
changes in DNA methylation levels has not been systematically explored. We developed an …

Genetic characterization of endometriosis patients: review of the literature and a prospective cohort study on a Mediterranean population

S Angioni, MN D'Alterio, A Coiana, F Anni… - International journal of …, 2020 - mdpi.com
The pathogenesis of endometriosis is unknown, but some evidence supports a genetic
predisposition. The purpose of this study was to evaluate the recent literature on the genetic …

A common allele increases endometrial Wnt4 expression, with antagonistic implications for pregnancy, reproductive cancers, and endometriosis

M Pavličev, CE McDonough-Goldstein… - Nature …, 2024 - nature.com
The common human SNP rs3820282 is associated with multiple phenotypes including
gestational length and likelihood of endometriosis and cancer, presenting a paradigmatic …

Tissue specific regulation of transcription in endometrium and association with disease

S Mortlock, RI Kendarsari, JN Fung… - Human …, 2020 - academic.oup.com
STUDY QUESTION Are genetic effects on endometrial gene expression tissue specific
and/or associated with reproductive traits and diseases? SUMMARY ANSWER Analyses of …

Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome

JN Fung, S Mortlock, JE Girling… - Scientific reports, 2018 - nature.com
Gene expression varies markedly across the menstrual cycle and expression levels for
many genes are under genetic control. We analyzed gene expression and mapped …

Genetics of endometriosis: a comprehensive review

D Deiana, S Gessa, M Anardu, A Daniilidis… - Gynecological …, 2019 - Taylor & Francis
This review aimed to critically evaluate the review, observational, cohort, and case–control
studies performed so far in order to assess the association between endometriosis and …

Complex genetics of female fertility

R Gajbhiye, JN Fung, GW Montgomery - NPJ Genomic Medicine, 2018 - nature.com
Variation in reproductive lifespan and female fertility have implications for health, population
size and ageing. Fertility declines well before general signs of menopause and is also …

Should genetics now be considered the pre-eminent etiologic factor in endometriosis?

GW Montgomery, S Mortlock, LC Giudice - Journal of minimally invasive …, 2020 - Elsevier
Endometriosis is a common, estrogen-dependent, inflammatory disorder characterized by
the growth of endometrial-like tissue at extrauterine locations. Its pathogenesis and …

Genomics of endometriosis: From genome wide association studies to exome sequencing

I Lalami, C Abo, B Borghese, C Chapron… - International journal of …, 2021 - mdpi.com
This review aims at better understanding the genetics of endometriosis. Endometriosis is a
frequent feminine disease, affecting up to 10% of women, and characterized by pain and …