This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Monday, March 23, 2020

Genome‐wide analysis of DNA methylation in endometriosis using Illumina Human Methylation 450 K BeadChips


The aim of this study was to conduct a GWAS investigating variations in DNA methylation in women with endometriosis. Endometriosis is a gynecological disorder that affects approximately 1 in 10 women worldwide, but takes, on average, ten years to get a diagnosis. As of right now, the only way to be diagnosed with endometriosis is surgical excision and biopsy of lesions, a costly and painful method. 12,159 differentially methylated CpG sites and 375 differentially methylated promoter regions were identified; these played roles in inflammatory response, cell adhesion, negative response to apoptosis, and other factors that play a role in the manifestation of endometriosis. It will be interesting to see if epigenetic markers begin to be used more regularly as diagnostic tools as an alternative to surgery in this and other illnesses.

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mrd.23127?casa_token=GVs3q-mtnksAAAAA:1l2YXHVJ_4-Il6IQ-X7Q5xRvEXZQjIRFRNRFyBgZFE3w3NhrpXs9BULZ-QJTay3R2WCP7kHoNuHb1Q

Rachel Nelson
03/23/20

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