Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.
Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.
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DOI：
10.1002/bdr2.1834
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发表时间：
2021-01-01
影响因子：
2.1
通讯作者：
Kruszka, Paul
中科院分区：
文献类型：
--
作者：
Addissie, Yonit A.;Troia, Angela;Wong, Zoe C.;Everson, Joshua L.;Kozel, Beth A.;Muenke, Maximilian;Lipinski, Robert J.;Malecki, Kristen M. C.;Kruszka, Paul
前脑无裂畸形是前脑最常见的畸形（250个胚胎中有1个），对胎儿和儿童发育有严重影响。本研究评估了与前脑无裂畸形风险、严重程度和基因-环境相互作用相关的非遗传因素。对于这项回顾性病例对照研究，我们开发了一份在线问卷，重点关注妊娠前和妊娠期间常见和罕见毒素/毒物的暴露情况、营养因素、孕产妇健康史和人口统计学因素。前脑无裂畸形的患者主要是从我们正在进行的前脑无裂畸形的遗传学和临床研究中确定的。对照组包括通过WBD支持小组和传单中的在线广告确定的Williams-Beuren综合征（WBS）儿童。研究了病例和对照组之间以及不同前脑无裂畸形严重程度病例之间暴露几率的差异。病例包括出生时患有前脑无裂畸形的儿童（n = 92），对照组包括患有WBS的儿童（n = 56）。与前脑无裂畸形相关的妊娠相关风险包括母体妊娠前糖尿病（9.2%的病例和0例对照，p = .02），饮酒量较高（调整的比值比[aOR]，1.73; 95%CI，0.88-15.71），以及暴露于消费品，如气雾剂或喷雾剂，包括发胶（aOR，2.46; 95% CI，0.89-7.19）。发现了显著的基因-环境相互作用，包括奶酪（p <0.05）和浓缩咖啡饮料（p = 0.03）的消费。该研究确定了未来预防前脑无裂畸形应考虑的可改变的风险因素和基因-环境相互作用。需要进行更大规模的HPE队列研究来证实这些发现。
Holoprosencephaly is the most common malformation of the forebrain (1 in 250 embryos) with severe consequences for fetal and child development. This study evaluates nongenetic factors associated with holoprosencephaly risk, severity, and gene–environment interactions. For this retrospective case control study, we developed an online questionnaire focusing on exposures to common and rare toxins/toxicants before and during pregnancy, nutritional factors, maternal health history, and demographic factors. Patients with holoprosencephaly were primarily ascertained from our ongoing genetic and clinical studies of holoprosencephaly. Controls included children with Williams-Beuren syndrome (WBS) ascertained through online advertisements in a WBD support group and fliers. Difference in odds of exposures between cases and controls as well as within cases with varying holoprosencephaly severity were studied. Cases included children born with holoprosencephaly (n = 92) and the control group consisted of children with WBS (n = 56). Pregnancy associated risk associated with holoprosencephaly included maternal pregestational diabetes (9.2% of cases and 0 controls, p = .02), higher alcohol consumption (adjusted odds ratio [aOR], 1.73; 95% CI, 0.88–15.71), and exposure to consumer products such as aerosols or sprays including hair sprays (aOR, 2.46; 95% CI, 0.89–7.19). Significant gene–environment interactions were identified including for consumption of cheese (p < .05) and espresso drinks (p = .03). The study identifies modifiable risk factors and gene–environment interactions that should be considered in future prevention of holoprosencephaly. Studies with larger HPE cohorts will be needed to confirm these findings.
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DOI：
10.1002/ajmg.c.30243
发表时间：
2010-02-15
影响因子：
3.1
作者：
Haas, Dorothea;Muenke, Maximilian
通讯作者：
Muenke, Maximilian
影响因子：
2.7
作者：
Blader, P;Strähle, U
通讯作者：
Strähle, U
影响因子：
2.9
作者：
Gilbert, Marcoita T.;Sulik, Kathleen K.;Parnell, Scott E.
通讯作者：
Parnell, Scott E.
DOI：
10.1002/ajmg.c.30242
发表时间：
2010-02-15
影响因子：
3.1
作者：
Johnson, Candice Y.;Rasmussen, Sonja A.
通讯作者：
Rasmussen, Sonja A.
影响因子：
10.4
作者：
Everson, Joshua L.;Sun, Miranda R.;Lipinski, Robert J.
通讯作者：
Lipinski, Robert J.