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Current Pediatric Research| Volume: 22
November 28-29, 2018 | Dubai, UAE
15
th
World Congress on
Pediatrics, Clinical Pediatrics and Nutrition
28
th
International Conference on
Nursing Practice
Joint Event
&
Association between rs3833912/rs16944 haplotypes and risk for Cerebral Palsy in Mexican children
Juan Antonio Gonzalez-Barrios, Sofia Torres-Merino, Hayde Nallely Moreno-Sandoval, Maria del Rocio Thompson-Bonilla, Josselyn
Alejandra Orendain Leon, Eduardo Gomez-Conde, Bertha Alicia Leon-Chavez
and
Daniel Martinez-Fong
ISSSTE Regional Hospital, Mexico
Background:
Perinatal asphyxia in the neonatal brain triggers
a robust inflammatory response in which nitric oxide (NO)
generation plays a hazardous role. Increased levels of NO
can be maintained by the activity of inducible NO synthase
(NOS2A) on its own or activated by IL-1beta (IL-1β) gene
transcription and positive back stimulation of the NOS2
(CCTTT)n microsatellite by IL-1β, thus potentiating brain
injury after ischemic perinatal asphyxia. We investigated
whether the risk for cerebral palsy (CP) increases when
an expansion of the -2.5 kb (CCTTT)n microsatellite in
the NOS2A gene and a single nucleotide polymorphism
(SNP) in -C511T of the IL- IL-1β gene promoter occurs in
patients after perinatal hypoxic-ischemic encephalopathy.
Methods:
GenomicDNAwaspurifiedfromperipheralleukocytes
of48patientswithCPandof57healthycontrolchildren.IL-1βSNP
genotypeswereestablishedusinga real-timePCRtechniqueand
fluorogenic probes and were validated by restriction fragment
length polymorphism (RFLP) analysis using the AvaI restriction
enzyme. The length of the CCTTTn microsatellite in the NOS2
gene promoter was determined by automated sequencing.
Results:
The 14-repeat long allele of the CCTTTn NOS2A
microsatellite was present in 27% of CP patients vs 12.3 %
of controls, showing an odds ratio (OR)=2.6531 and 95 %
confidence interval (CI) =0.9612–7.3232, P<0.0469. The -511TT
genotype frequency showed an OR = 2.6325 (95% CI = 1.1348–
6.1066), P = 0.0189. Interestingly, the haplotype CCTTT14/TT
showed an OR =9.561; 95 %, CI = 1.1321–80.753; P = 0.0164.
Conclusions:
The haplotype (CCTTT)14/TT, formed by the
expansion of the-2.5 kb (CCTTT)n microsatellite in the NOS2A
genepromoterandthe-511CαTSNPoftheIL-1βgenepromoter,
might be a useful marker to identify patients who are at high
risk for developing CP after hypoxic ischemic encephalopathy.
Speaker Biography
JuanAntonioGonzalezBarriosisahighlyprofessionalMedicalDoctor,CellularandMolecular
NeurobiologistandaHealthSystemManageratMexico.Hecompletedhisbachelor’sdegree
in National Polytechnic Institute, Mexico City, Mexico. He completed his MSc. Degree and
PhD. Degree in Cellular and Molecular Neurobiology at Center for Research and Advances
Studies, Mexico City, Mexico. He completed his Master’s in Health SystemManagement at
National Autonomous University of Mexico, Mexico City, Mexico. He is currently serving as
HeadofGenomicMedicineLaboratory,RegionalHospital“October1st,MexicoCity,Mexico.
e:
jantgonzalez69@gmail.comJuan Antonio Gonzalez-Barrios et al., Pediatrics and Clinical Pediatrics 2018
& Nursing Practice 2018, Volume 22
DOI: 10.4066/0971-9032-C2-006