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Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.

ABSTRACT: AIM:To test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE). METHODS:The study included 110 unrelated term or preterm born children (69 boys and 41 girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any neurological problems after the second year of life. Children with perinatal HIE fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the Clinical Hospital Split between 1992 and 2008. We analyzed 6 tagging single nucleotide polymorphisms (SNP) within NOS3 gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983), in addition to previously confirmed NOS3-associated SNP rs1800779. Genotyping was conducted using real-time polymerase chain reaction (PCR). Association analyses were performed according to allelic and genotypic distribution. RESULTS:Allelic test did not show any SNP association with HIE. SNP rs1808593 showed genotype association (P=0.008) and rs1800783-rs1800779 TG haplotype showed an association with HIE (P<0.001). The study had 80% statistical power to detect (?=0.05) an effect with odds ratio (OR)=2.07 for rs3918186, OR=1.69 for rs3918188, OR=1.70 for rs1800783, OR=1.80 for rs1808593, OR=2.10 for rs3918227, OR=1.68 for rs1800779, and OR=1.76 for rs1799983, assuming an additive model. CONCLUSION:Despite the limited number of HIE patients, we observed genotypic and haplotype associations of NOS3 polymorphisms with HIE.

SUBMITTER: Kuzmanic Samija R

PROVIDER: S-EPMC3118712 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.

Kuzmanić Samija Radenka R Primorac Dragan D Resić Biserka B Lozić Bernarda B Krzelj Vjekoslav V Tomasović Maja M Stoini Eugenio E Samanović Ljubo L Benzon Benjamin B Pehlić Marina M Boraska Vesna V Zemunik Tatijana T

Croatian medical journal 20110601 3

<h4>Aim</h4>To test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE).<h4>Methods</h4>The study included 110 unrelated term or preterm born children (69 boys and 41 girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any neurological problems after the second year of life. Children with perinatal HIE fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the Clinical Hospital Split between 1992 and 2008. We ...[more]

PMID: 21674837

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Project description:BACKGROUND:Periventricular leukomalacia (PVL) is a frequent consequence of hypoxic-ischemic injury. Functional cytokine gene variants that result in altered production of inflammatory (tumor necrosis factor-alpha [TNF-?] and interleukin-1beta [IL-1?]) or anti-inflammatory (interleukin-10 [IL-10]) cytokines may modify disease processes, including PVL. OBJECTIVE:The aim of this study was to evaluate if there is a relationship between the two proinflammatory polymorphisms (TNF-?-1031T/C and IL-1?-511C/T) and the anti-inflammatory polymorphism IL-10-1082G/A and PVL risk in Brazilian newborns with and without this injury. MATERIALS AND METHODS:A cross-sectional case-control study performed at the Neonatal Intensive Care Unit of the Children's Hospital and Maternity of the São José do Rio Preto Medical School (FAMERP). Fifty preterm and term newborns were examined as index cases and 50 term newborns as controls, of both sexes for both groups. DNA was extracted from peripheral blood leukocytes, and the sites that encompassed the three polymorphisms were amplified by polymerase chain reaction-restriction fragment length polymorphism. RESULTS:Gestational age ranged from 25 to 39 weeks, in the case group, and in the control group it ranged from 38 to 42.5 weeks (P<0.0001). Statistically significant association was found between TNF-?-1031T/C high expression genotype TC (odds ratio [OR], 2.495; 95% confidence interval [CI], 1.10-5.63; P=0.043) as well as between genotypes (TC + CC) (OR, 2.471; 95% CI, 1.10-5.55; P=0.044) and risk of PVL. Statistically significant association was found between IL-1?-511C/T high expression genotypes (CT + TT) (OR, 23.120; 95% CI, 1.31-409.4; P=0.003) and risk of PVL. Statistically significant association between IL-10-1082G/A high expression genotype GG (OR, 0.07407; 95% CI, 0.02-0.34; P<0.0001) as well as between IL-10-1082G high expression allele (OR, 0.5098; 95% CI, 0.29-0.91; P=0,030) and PVL reduced risk was observed. There was a statistically significant association between TC/CT/GA genotype combination and the risk of PVL (OR, 6.469; 95% CI, 2.00-20.92; P=0.001). CONCLUSION:There is evidence of an association between the polymorphisms TNF-?-1031T/C, IL-1?-511C/T, and IL-10-1082G/A and PVL risk in this Brazilian newborn population studied.

Dataset Information

Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.

Publications

Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.

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