지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제1호
- 발행연도
- 2015.1
- 수록면
- 40 - 45 (6page)
이용수
초록· 키워드
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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 (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).
Conclusion: Correlation 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.
목차
등록된 정보가 없습니다.
참고문헌 (24)
참고문헌 신청
Amos-Landgraf JM / 1999 / Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal bre
Ayabe T / 2013 / Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion / Am J Med Genet A 161A : 1495 ~ 1497
Bingham C / 1982 / Inferential statistical methods for estimating and comparing cosinor parameters / Chronobiologia 9 : 397 ~ 439
Bishop AJ / 2000 / Homologous recombination as a mechanism for genome rearrangements: environmental and genetic effects / Hum Mol Genet 9 : 2427 ~ 2334
Bittel DC / 2005 / Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology / Expert Rev Mol Med 7 : 1 ~ 20
Ayabe T / 2013 / Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion / Am J Med Genet A 161A : 1495 ~ 1497
Bingham C / 1982 / Inferential statistical methods for estimating and comparing cosinor parameters / Chronobiologia 9 : 397 ~ 439
Bishop AJ / 2000 / Homologous recombination as a mechanism for genome rearrangements: environmental and genetic effects / Hum Mol Genet 9 : 2427 ~ 2334
Bittel DC / 2005 / Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology / Expert Rev Mol Med 7 : 1 ~ 20
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