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

Aram Yang1, Yeon Hee Lee1, Soon Young Nam1

  • 1Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Annals of Pediatric Endocrinology & Metabolism
|April 18, 2015
PubMed

Insights

Birth seasonality correlates with Prader-Willi syndrome (PWS) in Korean patients with chromosome 15 microdeletions. This suggests environmental factors may influence PWS pathogenesis, warranting further investigation into seasonal effects.

Area of Science:

  • Genetics
  • Environmental Health
  • Pediatrics

Background:

  • Prader-Willi syndrome (PWS) is a genetic disorder often caused by chromosome 15 microdeletions.
  • Environmental factors are hypothesized to play a role in PWS pathogenesis.
  • Investigating birth seasonality can offer insights into potential environmental influences.

Purpose of the Study:

  • To investigate the potential correlation between birth seasonality and Prader-Willi syndrome in a Korean population.
  • To compare seasonal birth patterns in PWS patients with deletion or maternal uniparental disomy (UPD) to the general population.

Main Methods:

  • Analysis of 211 Korean PWS patients diagnosed via methylation polymerase chain reaction.
  • Comparison of birth data from deletion and UPD groups (born 2000-2013) with the general population using Walter and Elwood method and cosinor analysis.
  • Statistical evaluation of seasonal and monthly birth variations.

Main Results:

  • No significant seasonal birth variation was observed in the total PWS cohort.
  • A significant monthly birth variation was found in the PWS deletion group compared to the general population (P<0.05).
  • The PWS deletion group showed a statistically significant peak birth month in January and nadir in July.

Conclusions:

  • Birth seasonality is correlated with Prader-Willi syndrome in Korean patients with chromosome 15 microdeletions.
  • The findings suggest a potential role for seasonal environmental factors in the microdeletion mechanism of PWS.
  • Further research is needed to elucidate the specific mechanisms linking seasonal effects and chromosome 15 microdeletions in PWS.
Abstract

Keywords:
BirthMicrodeletionPrader-Willi syndromeSeasonality

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