Journal article

Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases

S Mortlock, R Restuadi, R Levien, JE Girling, SJ Holdsworth-Carson, M Healey, Z Zhu, T Qi, Y Wu, SW Lukowski, PAW Rogers, J Yang, AF McRae, JN Fung, GW Montgomery

Clinical Epigenetics | Published : 2019

Abstract

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 evaluate tissue-specific genotype-epigenetic characteristics in DNA samples from both endometrium and blood collected from women at different stages of the menstrual cycle and relate results to genetic risk factors for reproductive traits and diseases. Results: We analysed DNA methylation (DNAm) data from endometrium and blood samples from 66 European women. Methylation profiles were compared between stages of the menstrual cycle, and changes in methylatio..

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Grants

Awarded by National Institute of Child Health and Human Development


Funding Acknowledgements

This work was supported by the National Health and Medical Research Council (NHMRC) under project grants GNT1026033, GNT1049472, GNT1046880, GNT1050208, GNT1105321, GNT1083405 and GNT1107258 and was supported in part by the NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development R01HD089511. A. M and G. W. M are supported by NHMRC Fellowships (GNT1083656, GNT1078399). J.Y is supported by the Sylvia and Charles Viertel Charitable Foundation.