Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study
Joint Authors
Borghese, Bruno
Chapron, Charles
Tost, Jörg
de Surville, Magalie
Busato, Florence
Letourneur, Frank
Mondon, Françoise
Vaiman, Daniel
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-02-04
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Characterizing genetic contributions to endometriosis might help to shorten the time to diagnosis, especially in the most severe forms, but represents a challenge.
Previous genome-wide association studies (GWAS) made no distinction between peritoneal endometriosis (SUP), endometrioma (OMA), and deep infiltrating endometriosis (DIE).
We therefore conducted a pooled sample-based GWAS and distinguished histologically confirmed endometriosis subtypes.
We performed an initial discovery step on 10-individual pools (two pools per condition).
After quality control filtering, a Monte-Carlo simulation was used to rank the significant SNPs according to the ratio of allele frequencies and the coefficient of variation.
Then, a replication step of individual genotyping was conducted in an independent cohort of 259 cases and 288 controls.
Our approach was very stringent but probably missed a lot of information due to the Monte-Carlo simulation, which likely explained why we did not replicate results from “classic” GWAS.
Four variants (rs227849, rs4703908, rs2479037, and rs966674) were significantly associated with an increased risk of OMA.
Rs4703908, located close to ZNF366, provided a higher risk of OMA (OR = 2.22; 95% CI: 1.26–3.92) and DIE, especially with bowel involvement (OR = 2.09; 95% CI: 1.12–3.91).
ZNF366, involved in estrogen metabolism and progression of breast cancer, is a new biologically plausible candidate for endometriosis.
American Psychological Association (APA)
Borghese, Bruno& Tost, Jörg& de Surville, Magalie& Busato, Florence& Letourneur, Frank& Mondon, Françoise…[et al.]. 2015. Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study. BioMed Research International،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055564
Modern Language Association (MLA)
Borghese, Bruno…[et al.]. Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study. BioMed Research International No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1055564
American Medical Association (AMA)
Borghese, Bruno& Tost, Jörg& de Surville, Magalie& Busato, Florence& Letourneur, Frank& Mondon, Françoise…[et al.]. Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055564
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055564