De Marco Patrizia, Merello Elisa, Calevo Maria Grazia, Mascelli Samantha, Pastorino Daniela, Crocetti Lucia, De Biasio Pierangela, Piatelli Gianluca, Cama Armando, Capra Valeria
U.O. Neurochirurgia, Istituto G. Gaslini, Largo G. Gaslini, 5, 16148, Genua, Italy.
Childs Nerv Syst. 2011 Jul;27(7):1073-81. doi: 10.1007/s00381-010-1372-y. Epub 2011 Jan 5.
Neural tube defects, including spina bifida and anencephaly, are the second most common birth defects with an incidence in Italy of 0.4-1/1,000. Information on factors playing a role in the pathogenesis of spina bifida is based on populations with different exposures, lifestyle, social and cultural habits compared to Italian people. Our objective was to fill this gap by using data from a case-control interview study carried out at the G. Gaslini Children's Hospital, Genoa, from 2000 to 2008.
We surveyed questionnaires from 133 case mothers and 273 control women providing information on periconceptional risk factors. Univariate and multivariate logistic regression analyses were used to estimate risks by odds ratios (ORs) and 95% confidence intervals (95% CIs).
Univariate results suggest that birth order, low maternal educational level, age, smoking habits, alcohol consumption, high caffeine intake, lack of folate supplementation, low and high calorie diet, occasional consumption of fruit and vegetables, high emotional stress, and environmental pollution are associated with an increased spina bifida risk. Nevertheless, high caffeine intake (OR = 10.82; 95% CI, 3.78-31), low calorie diet (OR = 5.15; 95%CI, 1.79-14), occasional consumption of fruit and vegetables (OR = 3.38; 95% CI, 1.67-6.82), alcohol consumption (OR = 3.05; 95% CI, 1.24-7.50) and, above all, lack of folate supplementation at any time of pregnancy (OR = 20.54; 95% CI, 5.41-77) mainly determined spina bifida risk in the multivariate analysis.
Our findings point out that a common underlying mechanism, a disturbed folate/homocysteine metabolism, may be causative for the burden of spina bifida in the Italian population.
神经管缺陷，包括脊柱裂和无脑儿，是第二常见的出生缺陷，在意大利的发病率为0.4 - 1/1000。与意大利人相比，关于在脊柱裂发病机制中起作用的因素的信息是基于不同暴露、生活方式、社会和文化习惯的人群。我们的目标是通过使用2000年至2008年在热那亚的G.加斯利尼儿童医院进行的一项病例对照访谈研究的数据来填补这一空白。
我们调查了133名病例母亲和273名对照女性的问卷，这些问卷提供了关于受孕前危险因素的信息。单因素和多因素逻辑回归分析用于通过比值比（OR）和95%置信区间（95%CI）估计风险。
单因素结果表明，出生顺序、母亲教育水平低、年龄、吸烟习惯、饮酒、高咖啡因摄入量、缺乏叶酸补充、低热量和高热量饮食、偶尔食用水果和蔬菜、高情绪压力以及环境污染与脊柱裂风险增加有关。然而，在多因素分析中，高咖啡因摄入量（OR = 10.82；95%CI，3.78 - 31）、低热量饮食（OR = 5.15；95%CI，1.79 - 14）、偶尔食用水果和蔬菜（OR = 3.38；95%CI，1.67 - 6.82）、饮酒（OR = 3.05；95%CI，1.24 - 7.50），最重要的是，孕期任何时候缺乏叶酸补充（OR = 20.54；95%CI，5.41 - 77）主要决定了脊柱裂风险。
我们的研究结果指出，一种常见的潜在机制，即叶酸/同型半胱氨酸代谢紊乱，可能是意大利人群中脊柱裂负担的病因。
