Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
| Autor: | Yu Ju Jeong, Aram Yang, Soon Young Nam, Jieun Lee, Rimm Huh, Dong-Kyu Jin, Yechan Kyung, Sung Yoon Cho, Younghee Kwun, Yeonhee Lee |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Endocrinology Diabetes and Metabolism Population Chromosome 15 Maternal uniparental disomy Statistical significance medicine education education.field_of_study business.industry Birth Month Significant difference lcsh:RJ1-570 Genetic disorder nutritional and metabolic diseases lcsh:Pediatrics Seasonality medicine.disease Pediatrics Perinatology and Child Health Birth Microdeletion Original Article Prader-Willi syndrome business |
| Zdroj: | Annals of Pediatric Endocrinology & Metabolism, Vol 20, Iss 1, Pp 40-45 (2015) Annals of Pediatric Endocrinology & Metabolism |
| ISSN: | 2287-1292 2287-1012 |
| DOI: | 10.6065/apem.2015.20.1.40 |
| Popis: | PURPOSE Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogenesis of microdeletion in PWS. In this study, we investigated birth seasonality in Korean PWS. METHODS A total of 211 PWS patients born from 1980 to 2014 were diagnosed by methylation polymerase chain reaction at Samsung Medical Center. Of the 211 patients, 138 were born from 2000-2013. Among them, the 74 patients of a deletion group and the 22 patients of a maternal uniparental disomy (UPD) group were compared with general populations born from 2000 using the Walter and Elwood method and cosinor analysis. RESULTS There was no statistical significance in seasonal variation in births of the total 211 patients with PWS (χ(2)=7.2522, P=0.2982). However, a significant difference was found in the monthly variation between PWS with the deletion group and the at-risk general population (P |
| Databáze: | OpenAIRE |
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