Results
| PMID | 25722978 |
| Gene Name | ZNF366 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | rs227849, rs4703908, rs2479037, and rs966674 |
| Population size | 647 |
| Population details | 647 (319 endometriotic patient, 308 controls) |
| Sex | Female |
| Other associated phenotypes |
Endometriosis |
|
Biomed Res Int. 2015;2015:461024. doi: 10.1155/2015/461024. Epub 2015 Feb 4. Borghese, Bruno| Tost, Jorg| de Surville, Magalie| Busato, Florence| Letourneur, Frank| Mondon, Francoise| Vaiman, Daniel| Chapron, Charles Institut Cochin, Universite Paris Descartes, Sorbonne Paris Cite, CNRS (UMR 8104), 75014 Paris, France ; Inserm, U1016, 75014 Paris, France ; Universite Paris Descartes, Sorbonne Paris Cite, Service de Gynecologie Obstetrique 2 et Medecine de la Reprod 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. Mesh Terms: Carrier Proteins/genetics| Endometriosis/*genetics/pathology| Female| Gene Frequency| *Genetic Predisposition to Disease| *Genome-Wide Association Study| Genotype| Humans| Ovary/pathology| Peritoneum/pathology| Polymorphism, Single Nucleotide|DA |
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