作者
Shavanthi Rajatileka, David Odd, Matthew T Robinson, Alexandra C Spittle, Louis Dwomoh, Maggie Williams, David Harding, Miles Wagstaff, Marie Owen, Charlene Crosby, Jared Ching, Elek Molnár, Karen Luyt, Anikó Váradi
发表日期
2018/3
期刊
Molecular Neurobiology
卷号
55
页码范围
2013-2024
出版商
Springer US
简介
Preterm delivery is associated with neurodevelopmental impairment caused by environmental and genetic factors. Dysfunction of the excitatory amino acid transporter 2 (EAAT2) and the resultant impaired glutamate uptake can lead to neurological disorders. In this study, we investigated the role of single nucleotide polymorphisms (SNPs; g.-200C>A and g.-181A>C) in the EAAT2 promoter in susceptibility to brain injury and neurodisability in very preterm infants born at or before 32-week gestation. DNA isolated from newborns’ dried blood spots were used for pyrosequencing to detect both SNPs. Association between EAAT2 genotypes and cerebral palsy, cystic periventricular leukomalacia and a low developmental score was then assessed. The two SNPs were concordant in 89.4% of infants resulting in three common genotypes all carrying two C and two A alleles in different combinations. However, in 10 …
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