Integrative Review of Genetic Factors Influencing Neurodevelopmental Outcomes in Preterm Infants.
Integrative Review of Genetic Factors Influencing Neurodevelopmental Outcomes in Preterm Infants.
复制标题
DOI：
10.1177/1099800415605379
复制
发表时间：
2016-03
影响因子：
2.5
通讯作者：
Anderson C
中科院分区：
文献类型：
--
作者：
Blair LM;Pickler RH;Anderson C
早产儿患一系列神经发育问题的风险较高，包括在以后的生活中出现的疾病。基因-环境相互作用和早产可能联合收割机增加神经发育不良的风险。越来越多的证据支持非典型发育风险的遗传联系;然而，目前没有基因组风险概况用于没有明显遗传疾病的婴儿。本综述的目的是综合最近的证据，遗传协会与非典型的神经发育的结果，可能会影响早产儿谁没有罕见的遗传疾病。使用电子和手动搜索策略查找2009年7月至2014年7月期间发表的英语、同行评审的主要研究或荟萃分析报告的相关文章，涉及人类参与者。分析中纳入的文章（N = 29）使用了广泛的研究设计和方法，使分析复杂化。一个综合审查设计用于综合数据。许多基因（n = 43）和额外的大缺失拷贝数变异与神经发育结果相关，包括认知，注意力，知觉，精神疾病，自闭症谱系障碍，脑瘫，婴儿行为和脑结构的改变。建立复杂的神经发育障碍的遗传风险概况目前受到不一致的遗传关联证据，方法学考虑，报告问题和缺乏复制的阻碍。然而，几种研究途径提供了希望，包括大（>100 kb）拷贝数变异和候选基因MET，NRG 3和SLC 6A 4，其中每一个都被报道与神经发育结果在多个，高质量的研究。
Preterm infants are at elevated risk for a host of neurodevelopmental problems, including disorders that appear later in life. Gene–environment interactions and prematurity may combine to increase the risk for poor neurodevelopmental outcomes. Increasing evidence supports a genetic link to risk for atypical development; however, no genomic risk profiles are currently used for infants without apparent genetic disorders. The purpose of this review was to synthesize recent evidence of genetic associations with atypical neurodevelopmental outcomes that may affect preterm infants who do not have a rare genetic disease. Electronic and hand-search strategies were used to find relevant articles that were English-language, peer-reviewed primary research or meta-analysis reports published between July 2009 and July 2014, involving human participants. Articles included in the analysis (N = 29) used a wide range of study designs and methodologies, complicating the analysis. An integrative-review design was used to synthesize the data. Numerous genes (n = 43) and additional large deletion copy number variants were associated with neurodevelopmental outcomes, including cognition, attention, perception, psychiatric disease, autism spectrum disorder, cerebral palsy, infant behavior, and alterations in brain architecture. The creation of genetic risk profiles for complex disorders of neurodevelopment is presently hindered by inconsistent genetic-association evidence, methodological considerations, reporting problems, and lack of replication. However, several avenues of investigation offer promise, including large (>100 kb) copy number variants and the candidate genes MET, NRG3, and SLC6A4, each of which were reported to have associations with neurodevelopmental outcomes in multiple, high-quality studies.
登录
查看更多内容
影响因子：
--
作者：
Alaerts, Maaike;Ceulemans, Shana;Del-Favero, Jurgen
通讯作者：
Del-Favero, Jurgen
影响因子：
6.6
作者：
Braff, David L.;Freedman, Robert;Gottesman, Irving I.
通讯作者：
Gottesman, Irving I.
DOI：
10.1002/ajmg.b.30996
发表时间：
2010-03-01
影响因子：
2.8
作者：
Chandler, David;Dragovic, Milan;Jablensky, Assen
通讯作者：
Jablensky, Assen
影响因子：
4.6
作者：
Beevers, Christopher G.;Wells, Tony T.;McGeary, John E.
通讯作者：
McGeary, John E.
影响因子：
3.7
作者：
Håvik B;Degenhardt FA;Johansson S;Fernandes CP;Hinney A;Scherag A;Lybæk H;Djurovic S;Christoforou A;Ersland KM;Giddaluru S;O'Donovan MC;Owen MJ;Craddock N;Mühleisen TW;Mattheisen M;Schimmelmann BG;Renner T;Warnke A;Herpertz-Dahlmann B;Sinzig J;Albayrak Ö;Rietschel M;Nöthen MM;Bramham CR;Werge T;Hebebrand J;Haavik J;Andreassen OA;Cichon S;Steen VM;Le Hellard S
通讯作者：
Le Hellard S