Sarah J. Holdsworth‐Carson

Endometriosis is a complex disease, influenced by genetic factors. Genetic markers associated with endometriosis exist at chromosome 1p36.12 and lead to altered expression of the long intergenic non-coding RNA 339 (LINC00339), however, the …

Endometriosis effects up to 1 in 9 women, and can be a severe and debilitating disease. It is suggested that there is a link between endometriosis and allergic hypersensitivities, including allergic and non-allergic food hypersensitivity. B…

Sir, We thank Professor Donnez for his interest and considered response in regard to our article (Colgrave et al., 2020). In current practice, a pathologist will diagnose endometriosis using sections from biopsies stained with haematoxylin …

The etiology and pathogenesis of endometriosis are complex with both genetic and environmental factors contributing to disease risk. Genome-wide association studies (GWAS) have identified multiple signals in the estrogen receptor 1 (ESR1) r…

RESEARCH QUESTION: Does obesity affect endometrial gene expression in women with endometriosis, specifically women with stage I disease? DESIGN: Differential gene expression analysis was conducted on endometrium from women with and without…

STUDY QUESTION: Do menstrual cycle-dependent changes occur in the histological appearance of superficial peritoneal endometriotic lesions, and are they equivalent to those observed in the eutopic endometrium? SUMMARY ANSWER: Only a small s…

Endometriotic lesions are composed in part of endometrial-like stromal cells, however, there is a shortage of immortalized human endometrial stromal cultures available for research. As genetic factors play a role in endometriosis risk, it i…

STUDY QUESTION: Are genetic effects on endometrial gene expression tissue specific and/or associated with reproductive traits and diseases? SUMMARY ANSWER: Analyses of RNA-sequence data and individual genotype data from the endometrium ide…

Gene expression varies markedly across the menstrual cycle and expression levels for many genes are under genetic control. We analyzed gene expression and mapped expression quantitative trait loci (eQTLs) in endometrial tissue samples from …

Introduction: There is a well-established inverse relationship between body mass index and frequency of endometriosis. However, these population-based studies have relied mostly on self-reported cases of endometriosis, rather than surgicall…

STUDY OBJECTIVE: To examine the presence of sonographic evidence of adenomyosis (SEOA) in patients undergoing laparoscopic surgery for the investigation of endometriosis and to assess if there is an association between SEOA and endometriosi…

There is an inverse relationship between endometriosis and a women’s body mass index. To date, the precise mechanisms and aetiological basis linking body mass index with endometriosis remain unknown. Although an increased incidence of endom…

STUDY QUESTION: Do genetic effects regulate gene expression in human endometrium? SUMMARY ANSWER: This study demonstrated strong genetic effects on endometrial gene expression and some evidence for genetic regulation of gene expression in …

STUDY QUESTION: Do endometriosis risk-associated single nucleotide polymorphisms (SNPs) found at the 12q22 locus have effects on vezatin ( ITALIC! VEZT) expression? SUMMARY ANSWER: The original genome-wide association study (GWAS) SNP (rs1…

Genome-wide association studies (GWAS) have identified markers within the WNT4 region on chromosome 1p36.12 showing consistent and strong association with increasing endometriosis risk. Fine mapping using sequence and imputed genotype data …

STUDY QUESTION: Do DNA variants in the growth regulation by estrogen in breast cancer 1 (GREB1) region regulate endometrial GREB1 expression and increase the risk of developing endometriosis in women? SUMMARY ANSWER: We identified new sing…