ArticleJournal of assisted reproduction and genetics2017
Copy number variation analysis reveals additional variants contributing to endometriosis development.
Article in Journal of assisted reproduction and genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 20 citations in OpenAlex.
- Characterization of large-scale genomic differences in the first complete human genome.Genome biology · 2023Article
- Article
- Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing.International journal of molecular sciences · 2021Review
- Malignant Transformation and Associated Biomarkers of Ovarian Endometriosis: A Narrative Review.Advances in therapy · 2020Review
- Endometriosis: advances and controversies in classification, pathogenesis, diagnosis, and treatment.F1000Research · 2019Review
- Endometriosis and endometriosis-associated cancers: new insights into the molecular mechanisms of ovarian cancer development.Ecancermedicalscience · 2018Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeEndometriosis 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.
methodsWe 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.
resultsWe 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).
conclusionsWe 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.
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