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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.com

Juan Antonio Gonzalez-Barrios et al., Pediatrics and Clinical Pediatrics 2018

& Nursing Practice 2018, Volume 22

DOI: 10.4066/0971-9032-C2-006