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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Copy number variation analysis reveals additional variants contributing to endometriosis development

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Author(s):
Mafra, Fernanda ; Mazzotti, Diego ; Pellegrino, Renata ; Bianco, Bianca ; Barbosa, Caio Parente ; Hakonarson, Hakon ; Christofolini, Denise
Total Authors: 7
Document type: Journal article
Source: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS; v. 34, n. 1, p. 117-124, JAN 2017.
Web of Science Citations: 3
Abstract

Purpose Endometriosis is a gynecological disease influenced by multiple genetic and environmental factors. The aim of the current study was to use SNP-array technology to identify genomic aberrations that may possibly contribute to the development of endometriosis. Methods We performed an SNP-array genotyping of pooled DNA samples from both patients (n = 100) and controls (n = 50). Copy number variation (CNV) calling and association analyses were performed using PennCNV software. MLPA and TaqMan Copy-Number assays were used for validation of CNVs discovered. Results We detected 49 CNV loci that were present in patients with endometriosis and absent in the control group. After validation procedures, we confirmed six CNV loci in the subtelomeric regions, including 1p36.33, 16p13.3, 19p13.3, and 20p13, representing gains, while 17q25.3 and 20q13.33 showed losses. Among the intrachromosomal regions, our results revealed duplication at 19q13.1 within the FCGBP gene (p = 0.007). Conclusions We identified CNVs previously associated with endometriosis, together with six suggestive novel loci possibly involved in this disease. The intergenic locus on chromosome 19q13.1 shows strong association with endometriosis and is under further functional investigation. (AU)

FAPESP's process: 12/22394-8 - Genomic Variation as risk factor for the development and progression of endometriosis
Grantee:Fernanda Abani Mafra
Support type: Scholarships in Brazil - Doctorate
FAPESP's process: 14/07136-8 - Genomic variations as risk factors for the development and progression of endometriosis
Grantee:Fernanda Abani Mafra
Support type: Scholarships abroad - Research Internship - Doctorate