Neurobiologie des Interactions Cellulaires et Neurophysiopathologie (NICN), CNRS UMR 6184, IFR Jean Roche, Faculté de Médecine Nord, Marseille, France.
Mult Scler. 2009 Oct;15(10):1146-52. doi: 10.1177/1352458509106780. Epub 2009 Sep 21.
Both genetic and environmental factors contribute to multiple sclerosis, the most common neurodegenerative disorder with onset in young adults. The objective of the current study is, based on the hypothesis that environmentally predisposed individuals are at risk for multiple sclerosis, to investigate whether they also carry genetic variants within the vitamin D machinery. Using medical files and DNA samples from 583 trios (a patient and both parents) of the French Multiple Sclerosis Genetics Group as well as data from the French Statistics Bureau, we aimed to assess whether: (1) a seasonality of birth was observed in French multiple sclerosis patients; (2) three single nucleotide polymorphisms within the promoter region of the vitamin D receptor were associated with multiple sclerosis susceptibility; and (3) the combination of a high risk month of birth and vitamin D receptor polymorphisms were correlated to multiple sclerosis incidence. We observed a significantly reduced number of individuals born in November who were later diagnosed as multiple sclerosis patients. However, we found no association between the three studied vitamin D receptor polymorphisms and multiple sclerosis. In conclusion, our data suggest that high levels of vitamin D during the third trimester of pregnancy could be a protective factor for multiple sclerosis.
遗传和环境因素都与多发性硬化症有关，这是一种最常见的青年期起病的神经退行性疾病。本研究的目的是基于这样一种假设，即在环境因素影响下易患多发性硬化症的个体存在风险，因此调查他们是否也携带维生素 D 机制内的遗传变异。本研究使用了法国多发性硬化症遗传学组的 583 个三体型（一个患者和他的父母）的医疗档案和 DNA 样本，以及法国统计局的数据，旨在评估以下内容：（1）在法国多发性硬化症患者中是否存在季节性出生；（2）维生素 D 受体启动子区域内的三个单核苷酸多态性与多发性硬化症易感性有关；（3）高危出生月份与维生素 D 受体多态性的组合与多发性硬化症的发病率是否相关。我们观察到，后来被诊断为多发性硬化症患者的个体中，11 月出生的人数明显减少。然而，我们没有发现这三种研究的维生素 D 受体多态性与多发性硬化症之间存在关联。总之，我们的数据表明，妊娠晚期维生素 D 水平较高可能是多发性硬化症的保护因素。
