학술논문

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.
Document Type
article
Source
Nature communications. 8(1)
Subject
iPSYCH-SSI-Broad Group
Humans
Endometriosis
Genetic Predisposition to Disease
Gonadal Steroid Hormones
Estrogen Receptor alpha
Genotype
Polymorphism
Single Nucleotide
Adult
Aged
Middle Aged
Female
Metabolic Networks and Pathways
Genome-Wide Association Study
Genetic Loci
Genetics
Pain Research
Human Genome
Contraception/Reproduction
Clinical Research
Prevention
2.1 Biological and endogenous factors
1.1 Normal biological development and functioning
Language
Abstract
Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P