Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes
| العنوان: | Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes |
|---|---|
| المؤلفون: | Kim, Sang Jin, Sonmez, Kemal, Swan, Ryan, Campbell, J Peter, Ostmo, Susan, Chan, RV Paul, Nagiel, Aaron, Drenser, Kimberly A, Berrocal, Audina M, Horowitz, Jason D, Li, Xiaohui, Chen, Yii-Der Ida, Taylor, Kent D, Simmons, Charles, Rotter, Jerome I, Chiang, Michael F, Imaging and Informatics in Retinopathy of Prematurity (i-ROP) Research Consortium |
| المصدر: | Scientific Reports Scientific reports, vol 11, iss 1 Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021) |
| بيانات النشر: | Nature Publishing Group UK, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Nonsynonymous substitution, Male, Candidate gene, genetic structures, Disease, Reproductive health and childbirth, Retinal Neovascularization, Bioinformatics, Low Birth Weight and Health of the Newborn, 0302 clinical medicine, Infant Mortality, 2.1 Biological and endogenous factors, Aetiology, Exome sequencing, Pediatric, Multidisciplinary, Gestational age, Retinopathy of prematurity, Phenotype, Medicine, Female, Medical genomics, Infant, Premature, Biotechnology, congenital, hereditary, and neonatal diseases and abnormalities, Science, Article, 03 medical and health sciences, Rare Diseases, Preterm, Clinical Research, Exome Sequencing, medicine, Genetics, Humans, Retinopathy of Prematurity, Gene, Premature, Eye Disease and Disorders of Vision, business.industry, Human Genome, Infant, Newborn, Infant, Imaging and Informatics in Retinopathy of Prematurity (i-ROP) Research Consortium, Perinatal Period - Conditions Originating in Perinatal Period, medicine.disease, Newborn, eye diseases, 030104 developmental biology, Good Health and Well Being, 030221 ophthalmology & optometry, business |
| الوصف: | Retinopathy of prematurity (ROP) is a vasoproliferative retinal disease affecting premature infants. In addition to prematurity itself and oxygen treatment, genetic factors have been suggested to predispose to ROP. We aimed to identify potentially pathogenic genes and biological pathways associated with ROP by analyzing variants from whole exome sequencing (WES) data of premature infants. As part of a multicenter ROP cohort study, 100 non-Hispanic Caucasian preterm infants enriched in phenotypic extremes were subjected to WES. Gene-based testing was done on coding nonsynonymous variants. Genes showing enrichment of qualifying variants in severe ROP compared to mild or no ROP from gene-based tests with adjustment for gestational age and birth weight were selected for gene set enrichment analysis (GSEA). Mean BW of included infants with pre-plus, type-1 or type 2 ROP including aggressive posterior ROP (n = 58) and mild or no ROP (n = 42) were 744 g and 995 g, respectively. No single genes reached genome-wide significance that could account for a severe phenotype. GSEA identified two significantly associated pathways (smooth endoplasmic reticulum and vitamin C metabolism) after correction for multiple tests. WES of premature infants revealed potential pathways that may be important in the pathogenesis of ROP and in further genetic studies. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2045-2322 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1166d896f718497ff03d6f8b53ca08c5Test http://europepmc.org/articles/PMC7925531Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1166d896f718497ff03d6f8b53ca08c5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20452322 |
|---|