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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Copy number variation analysis reveals additional variants contributing to endometriosis development

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Autor(es):
Mafra, Fernanda ; Mazzotti, Diego ; Pellegrino, Renata ; Bianco, Bianca ; Barbosa, Caio Parente ; Hakonarson, Hakon ; Christofolini, Denise
Número total de Autores: 7
Tipo de documento: Artigo Científico
Fonte: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS; v. 34, n. 1, p. 117-124, JAN 2017.
Citações Web of Science: 3
Resumo

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)

Processo FAPESP: 12/22394-8 - Variações genômicas como fatores de risco para o desenvolvimento e progressão da endometriose
Beneficiário:Fernanda Abani Mafra
Linha de fomento: Bolsas no Brasil - Doutorado
Processo FAPESP: 14/07136-8 - Variações genômicas como fatores de risco para o desenvolvimento e progressão da endometriose
Beneficiário:Fernanda Abani Mafra
Linha de fomento: Bolsas no Exterior - Estágio de Pesquisa - Doutorado