Association Between rs3833912/rs16944 SNPs and Risk for Cerebral Palsy in Mexican Children

• DOI: 10.1007/s12035-018-1178-6
• Publication Date: 2018-06-21T14:32:48Z
• Authors: Sofia Torres-Merino; Hayde Nallely Mor...; Maria del Rocio T...; Josselyn Alejandr...; Eduardo Gomez-Conde; Bertha Alicia Leo...; Daniel Martinez-Fong; Juan Antonio Gonz...
• Keywords: Male; 0303 health sciences; Adolescent; Genotype; Cerebral Palsy; Interleukin-1beta; Nitric Oxide Synthase Type II; Polymorphism, Single Nucleotide; Article; 3. Good health; 03 medical and health sciences; Gene Frequency; Haplotypes; Case-Control Studies; Humans; Female; Genetic Predisposition to Disease; Child; Promoter Regions, Genetic; Mexico; Alleles; Microsatellite Repeats

Perinatal asphyxia in the neonatal brain triggers a robust inflammatory response which nitric oxide (NO) generation plays hazardous role. Increased levels of NO can be maintained by activity inducible synthase (NOS2A) on its own or activated IL-1beta (IL-1β) gene transcription and positive back stimulation NOS2 (CCTTT)n microsatellite IL-1β, thus potentiating injury after ischemic perinatal asphyxia. We investigated whether risk for cerebral palsy (CP) increases when an expansion - 2.5 kb NOS2A single nucleotide polymorphism (SNP) -C511T IL- IL-1β promoter occur patients hypoxic-ischemic encephalopathy. Genomic DNA was purified from peripheral leukocytes 48 with CP 57 healthy control children. SNP genotypes were established using real-time PCR technique fluorogenic probes validated restriction fragment length (RFLP) analysis AvaI enzyme. The CCTTTn determined automated sequencing. 14 repeat-long allele present 27% vs 12.3% controls, showing odds ratio (OR) = 2.6531 95% confidence interval (CI) 0.9612-7.3232 (P < 0.0469). -511 TT genotype frequency showed OR 2.6325 (95% CI 1.1348-6.1066, P 0.0189). Interestingly, haplotype CCTTT14/TT 9.561 (95%, 1.1321-80.753; 0.0164). (CCTTT)14/TT, formed C➝ T promoter, might useful marker to identify who are at high developing