TY - JOUR
T1 - Protocol for a case-control study investigating the clinical phenotypes and genetic regulation of endometriosis in Indian women
T2 - The ECGRI study
AU - Gajbhiye, Rahul K.
AU - Montgomery, Grant
AU - Pai, Murlidhar V.
AU - Phukan, Pranay
AU - Shekhar, Shashank
AU - Padte, Kedar
AU - Dasmahapatra, Pramathes
AU - John, Bimal M.
AU - Shembekar, Chaitanya
AU - Bhurke, Aishwarya V.
AU - Bagde, Nilajkumar
AU - Kulkarni, Ketki
AU - Sardeshpande, Nagendra
AU - Humane, Anil
AU - Mahobia, Swati
AU - Shah, Millind
AU - Singh, Uma
AU - Srivastava, Aarti
AU - Mishra, Gita
AU - Warty, Neeta
AU - Chandra, Sunita
AU - Mahale, Smita D.
N1 - Funding Information:
Acknowledgements The authors thank the members of the ECGRI study group. Dr Shailaja Patil, Dr Manisha Shembekar, Dr Parul Sharma Saoji, Jishna RP, Nimisha Bhuyan, Akhila S., Kiran Kharsodiya, Ashwini Patel, Merlin Pious, Aarti Kushwaha, Sudeshna Bakshi, Akshatha Shetty, Nadha Abdul Razack, Neha Yadav are sincerely acknowledged for assistance in data collection. Mr Ram Barai is acknowledged for assistance in ECGRI electronic database development. Dr Yogesh Kalkonde and Dr Rajesh Dikshit are acknowledged for critical inputs on the study design. Data collection was facilitated by and conducted in compliance with the World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project (WERF EPHect). This work was supported by the DBT Wellcome Trust India Alliance Fellowship [Grant no. IA/CPHI/18/1/503933] awarded to Rahul K Gajbhiye.
Publisher Copyright:
© 2021 BMJ Publishing Group. All rights reserved.
PY - 2021/8/9
Y1 - 2021/8/9
N2 - 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.
AB - 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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U2 - 10.1136/bmjopen-2021-050844
DO - 10.1136/bmjopen-2021-050844
M3 - Article
C2 - 34373312
AN - SCOPUS:85112588283
SN - 2044-6055
VL - 11
JO - BMJ Open
JF - BMJ Open
IS - 8
M1 - e050844
ER -