TY  - JOUR
PY  - 2014//
TI  - Common genetic variants and risk of brain injury after preterm birth
JO  - Pediatrics
A1  - Boardman, James P.
A1  - Walley, Andrew
A1  - Ball, Gareth
A1  - Takousis, Petros
A1  - Krishnan, Michelle L.
A1  - Hughes-Carre, Laurelle
A1  - Aljabar, Paul
A1  - Serag, Ahmed
A1  - King, Caroline
A1  - Merchant, Nazakat
A1  - Srinivasan, Latha
A1  - Froguel, Philippe
A1  - Hajnal, Jo
A1  - Rueckert, Daniel
A1  - Counsell, Serena Jane
A1  - Edwards, A. David
SP  - e1655
EP  - 63
VL  - 133
IS  - 6
N2  - BACKGROUND: The role of heritable factors in determining the common neurologic deficits seen after preterm birth is unknown, but the characteristic phenotype of neurocognitive, neuroanatomical, and growth abnormalities allows principled selection of candidate genes to test the hypothesis that common genetic variation modulates the risk for brain injury. <br><br>METHODS: We collected an MRI-linked genomic DNA library from 83 preterm infants and genotyped tag single nucleotide polymorphisms in 13 relevant candidate genes. We used tract-based spatial statistics and deformation-based morphometry to examine the risks conferred by carriage of particular alleles at tag single nucleotide polymorphisms in a restricted number of genes and related these to the preterm cerebral endophenotype. <br><br>RESULTS: Carriage of the minor allele at rs2518824 in the armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF) gene, which has been linked to neuronal migration and schizophrenia, and rs174576 in the fatty acid desaturase 2 gene, which encodes a rate-limiting enzyme for endogenous long chain polyunsaturated fatty acid synthesis and has been linked to intelligence, was associated with white matter abnormality measured in vivo using diffusion tensor imaging (P =.0009 and P =.0019, respectively). <br><br>CONCLUSIONS: These results suggest that genetic variants modulate white matter injury after preterm birth, and known susceptibilities to neurologic status in later life may be exposed by the stress of premature exposure to the extrauterine environment.<p />  <p>Language: en</p>
LA  - en
SN  - 0031-4005
UR  - http://dx.doi.org/10.1542/peds.2013-3011
ID  - ref1
ER  -