Sarah J Holdsworth-Carson

BACKGROUND: Endometriosis is a chronic condition affecting 1 in 7 women, girls, and gender-diverse individuals in Australia. It significantly impacts daily life, causing pain, psychological distress and productivity loss. Multidisciplinary …

BACKGROUND: Endocannabinoids are small lipid molecules that have critical roles in cellular proliferation and function. They are produced locally with their concentrations controlled via the endocannabinoid system (ECS). The important cellu…

RESEARCH QUESTION: Do different subtypes of superficial peritoneal endometriotic lesions exist, based on the presence and morphology of smooth muscle, collagen fibres and immune cell populations? DESIGN: A retrospective cohort study of 24 …

BACKGROUND: Despite surgical and pharmacological interventions, endometriosis can recur. Reliable information regarding risk of recurrence following a first diagnosis is scant. The aim of this study was to examine clinical and survey data i…

OBJECTIVE: Endometriosis is associated with a range of symptoms that can negatively impact a person's quality of life. While pain and infertility have received at lot of attention, sleep disturbances in individuals with endometriosis has be…

Women with endometriosis suffer lengthy diagnostic delay. In part, this is the consequence of nonspecific and overlapping symptomology with common gynaecological and other diseases. As such, endometriosis may be confused or misdiagnosed as …

Endocannabinoids mediate cellular functions and their activity is controlled by a complex system of enzymes, membrane receptors and transport molecules. Endocannabinoids are present in endometrium, a cyclical regenerative tissue requiring t…

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…

BACKGROUND: Major challenges in understanding the functional consequences of genetic risk factors for human disease are which tissues and cell types are affected and the limited availability of suitable tissue. The aim of this study was to …

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 iden…

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 …

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 (rs10…

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 singl…