A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis
| Autor: | Hugo L. Gallardo-Blanco, Rafael A. Salinas-Torres, Laura Elia Martínez-de-Villarreal, Victor M. Salinas-Torres, Ricardo M. Cerda-Flores |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
False discovery rate Candidate gene Angiogenesis Chromosomes Human Pair 21 Bioinformatics Pathogenesis 03 medical and health sciences 0302 clinical medicine medicine Humans Abnormalities Multiple Gene Chromosome Aberrations Gastroschisis Chromosomes Human Pair 13 business.industry General Medicine medicine.disease Thrombosis Exact test 030104 developmental biology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Surgery business Chromosomes Human Pair 18 |
| Zdroj: | Pediatric surgery international. 34(9) |
| ISSN: | 1437-9813 |
| Popis: | Gastroschisis has been assumed to have a low rate of syndromic and primary malformations. We aimed to systematically review and explore the frequency and type of malformations/chromosomal syndromes and to identify significant biological/genetic roles in gastroschisis. Population-based, gastroschisis-associated anomalies/chromosomal defects published 1950–2018 (PubMed/MEDLINE) were independently searched by two reviewers. Associated anomalies/chromosomal defects and selected clinical characteristics were subdivided and pooled by race, system/region, isolated, and associated cases (descriptive analysis and chi-square test were performed). Critical regions/genes from representative chromosomal syndromes including an enrichment analysis using Gene Ontology Consortium/Panther Classification System databases were explored. Fisher’s exact test with False Discovery Rate multiple test correction was performed. Sixty-eight articles and 18525 cases as a base were identified (prevalence of 17.9 and 3% for associated anomalies/chromosomal defects, respectively). There were 3596 associated anomalies, prevailing those cardiovascular (23.3%) and digestive (20.3%). Co-occurring anomalies were associated with male, female, American Indian, Caucasian, prenatally diagnosed, chromosomal defects, and mortality (P |
| Databáze: | OpenAIRE |
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