Introduction
Endometriosis is one of the common, gynaecological disorders
associated with chronic pelvic pain and subfertility affecting ~10% of
reproductive age women. The clinical presentation, etiopathogenesis of
endometriosis subtypes and associated risk factors are largely unknown.
Genome-Wide Association (GWA) Studies (GWAS) provide strong evidence for
the role of genetic risk factors contributing to endometriosis. However,
no studies have investigated the association of the GWAS-identified
single-nucleotide polymorphism (SNPs) with endometriosis risk in the
Indian population; therefore, one-sixth of the world’s population is not
represented in the global genome consortiums on endometriosis. The
Endometriosis Clinical and Genetic Research in India (ECGRI) study aims
to broaden our understanding of the clinical phenotypes and genetic
risks associated with endometriosis.
Methods and analysis
ECGRI is a large-scale, multisite, case–control study of 2000
endometriosis cases and 2000 hospital controls to be recruited over 4
years at 15 collaborating study sites across India covering
representative Indian population from east,north-east, north, central,
west and southern geographical zones of India. We will use the World
Endometriosis Research Foundation Endometriosis Phenome and Biobanking
Harmonisation Project (WERF-EPHect) data collection instruments for
capturing information on clinical, epidemiological, lifestyle,
environmental and surgical factors. WERF-EPHect standard operating
procedures will be followed for the collection, processing and storage
of biological samples. The principal analyses will be for main outcome
measures of the incidence of endometriosis, disease subtypes and disease
severity determined from the clinical data. This will be followed by
GWAS within and across ethnic groups.
Ethics and dissemination
The study is approved by the Institutional Ethics Committee of
Indian Council of Medical Research-National Institute for Research in
Reproductive Health and all participating study sites. The study is also
approved by the Health Ministry Screening Committee of the Government of
India. The results from this study will be actively disseminated through
discussions with endometriosis patient groups, conference presentations
and published manuscripts.
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