Comparison of total and endometrial circulating cell-free DNA in women with and without endometriosis

Anaïs Alonso, Anais Alonso, Nicole Laurencia Yuwono, Houshdaran S, Sahar Houshdaran, Jason Abbott, Abbott J, Rachael J. Rodgers, Rachael Rodgers, Rodgers R, Caroline Elizabeth Ford, Caroline E. Ford, Warton K, Kristina Warton
Reproductive BioMedicine Online · 2021 · vol. 44(3) , pp. 495–503 · doi:10.1016/j.rbmo.2021.11.006 · PMID:35031240 · W3212555677
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This study compared levels of total and endometrial circulating cell-free DNA between women diagnosed with endometriosis and healthy controls.

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Abstract

Research questionDo women with laparoscopically confirmed endometriosis have higher plasma concentrations of circulating cell-free DNA (cirDNA) than those without endometriosis?DesignProspective study of women aged 18-45 years undergoing benign gynaecological laparoscopy at two tertiary hospitals. Venous blood was collected immediately before surgery, and women were allocated to the endometriosis or control groups based on surgical findings. Total plasma cirDNA and cirDNA integrity were measured by quantitative polymerase chain reaction (qPCR) targeting short (115 bases) and long (247 bases) ALU segments. Endometrial-derived cirDNA was measured by qPCR of bisulfite-treated cirDNA using primers selective for a FAM101A sequence uniquely unmethylated in endometrial tissue. Five cirDNA parameters were compared between the control and endometriosis cohorts: total cirDNA concentration, long-stranded cirDNA concentration, integrity ratio, endometrial cirDNA concentration and endometrial cirDNA proportion.ResultsTwenty-eight endometriosis and 15 control samples were included. Women with and without endometriosis had cirDNA concentrations of 2.24 ± 0.89 ng/ml and 2.56 ± 0.92 ng/ml, respectively. Analysis by phenotype of endometriosis revealed a significantly higher endometrial cirDNA concentration in women with superficial disease (n = 10) compared with deep endometriosis (n = 18) (mean difference 0.14 ng/ml; 95% CI 0.15 to 0.26; P = 0.025), but not with controls.ConclusionsNo significant differences were found in any of the cirDNA parameters between women with and without endometriosis. The low statistical power and heterogenous pelvic pathology in the control group render it difficult to determine whether the negative results reflect a true lack of increase in cirDNA in endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Cell-Free Nucleic Acids Endometriosis Endometriosis Adolescent Adult Endometrium Female Humans Middle Aged Prospective Studies Young Adult

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