Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

PurposePrader-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 inve...

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Main Authors: Aram Yang, Yeon Hee Lee, Soon Young Nam, Yu Ju Jeong, Yechan Kyung, Rimm Huh, Jieun Lee, Younghee Kwun, Sung Yoon Cho, Dong-Kyu Jin
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2015-03-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Online Access:http://e-apem.org/upload/pdf/apem-20-40.pdf
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spelling doaj-12797dedc87e49cfb2afb12db1e291cb2020-11-24T22:47:37ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922015-03-01201404510.6065/apem.2015.20.1.40598Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletionAram Yang0Yeon Hee Lee1Soon Young Nam2Yu Ju Jeong3Yechan Kyung4Rimm Huh5Jieun Lee6Younghee Kwun7Sung Yoon Cho8Dong-Kyu Jin9Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.PurposePrader-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.MethodsA 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.ResultsThere was no statistical significance in seasonal variation in births of the total 211 patients with PWS (χ2=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<0.05). In the cosinor model, the peak month of birth for PWS patients in the deletion group was January, while the nadir occurred in July, with statistical significance (amplitude=0.23, phase=1.2, low point=7.2). The UPD group showed the peak birth month in spring; however, this result was not statistically significant (χ2=3.39, P=0.1836).ConclusionCorrelation with birth seasonality was identified in a deletion group of Korean PWS patients. Further studies are required to identify the mechanism related to seasonal effects of environmental factors on microdeletion on chromosome 15.http://e-apem.org/upload/pdf/apem-20-40.pdfPrader-Willi syndromeMicrodeletionBirthSeasonality
collection DOAJ
language English
format Article
sources DOAJ
author Aram Yang
Yeon Hee Lee
Soon Young Nam
Yu Ju Jeong
Yechan Kyung
Rimm Huh
Jieun Lee
Younghee Kwun
Sung Yoon Cho
Dong-Kyu Jin
spellingShingle Aram Yang
Yeon Hee Lee
Soon Young Nam
Yu Ju Jeong
Yechan Kyung
Rimm Huh
Jieun Lee
Younghee Kwun
Sung Yoon Cho
Dong-Kyu Jin
Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
Annals of Pediatric Endocrinology & Metabolism
Prader-Willi syndrome
Microdeletion
Birth
Seasonality
author_facet Aram Yang
Yeon Hee Lee
Soon Young Nam
Yu Ju Jeong
Yechan Kyung
Rimm Huh
Jieun Lee
Younghee Kwun
Sung Yoon Cho
Dong-Kyu Jin
author_sort Aram Yang
title Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
title_short Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
title_full Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
title_fullStr Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
title_full_unstemmed Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
title_sort birth seasonality in korean prader-willi syndrome with chromosome 15 microdeletion
publisher Korean Society of Pediatric Endocrinology
series Annals of Pediatric Endocrinology & Metabolism
issn 2287-1012
2287-1292
publishDate 2015-03-01
description PurposePrader-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.MethodsA 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.ResultsThere was no statistical significance in seasonal variation in births of the total 211 patients with PWS (χ2=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<0.05). In the cosinor model, the peak month of birth for PWS patients in the deletion group was January, while the nadir occurred in July, with statistical significance (amplitude=0.23, phase=1.2, low point=7.2). The UPD group showed the peak birth month in spring; however, this result was not statistically significant (χ2=3.39, P=0.1836).ConclusionCorrelation with birth seasonality was identified in a deletion group of Korean PWS patients. Further studies are required to identify the mechanism related to seasonal effects of environmental factors on microdeletion on chromosome 15.
topic Prader-Willi syndrome
Microdeletion
Birth
Seasonality
url http://e-apem.org/upload/pdf/apem-20-40.pdf
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