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 (α=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.
Subject(s)
Hypoxia-Ischemia, Brain/genetics , Infant, Premature , Nitric Oxide Synthase Type III/genetics , Polymorphism, Genetic/genetics , Algorithms , Apgar Score , Female , Genotype , Haplotypes , Humans , Hypoxia-Ischemia, Brain/diagnosis , Infant, Newborn , Male , Odds Ratio , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Statistics as TopicABSTRACT
Data on 550 healthy pregnant women, 550 healthy fathers and their healthy term neonates born from singleton pregnancies (37(+0) through 41(+6) week) during a one-year period were reviewed. Maternal mean age was 27.7 +/- 9.37 years, mean pregestational weight 64.0 +/- 9.50 kg, mean gestational weight gain 15.4 +/- 4.33 kg, mean height 169.7 +/- 5.81 cm, and mean gestational age 40.1 +/- 0.95 weeks. Paternal mean age was 31.4 +/- 6.22 years, mean weight 84.6 +/- 10.35 kg, and mean height 182.8 +/- 6.84 cm. Mean birth weight was 3,709.8 +/- 500.48 g and 3,562.5 +/- 443.02 g, and mean birth length 51.5 +/- 1.91 cm and 50.7 +/- 1.62 cm in male and female newborns, respectively, yielding a birth weight greater by 147.3 g and birth length by 0.8 cm in the former. Study variables showed statistically significant correlations: maternal age contributed to the significant correlation between maternal weight and parity, maternal pregestational weight, weight at delivery, gestational weight gain and body height correlated significantly with neonatal birth weight and birth length, gestational age correlated significantly with neonatal weight and length (p = 0.01 all), parity had no major impact (p > 0.05). Paternal height and weight correlated significantly with neonatal birth weight and birth length (p = 0.01). Study results pointed to a significant correlation of maternal pregestational weight, gestational weight gain and body height, and of paternal weight and height with the neonate birth weight and birth length.
Subject(s)
Birth Weight , Body Height , Body Weight , Parents , Parity , Adult , Female , Humans , Infant, Newborn , Male , PregnancyABSTRACT
The study included 2300 healthy couples and their healthy newborns delivered vaginally from singleton, normal term (37-42 weeks) pregnancies in Sibenik, Zadar and Split (Croatia). Both fathers and mothers of male newborns were older and had a higher weight than those of female newborns (p < 0.05). Gestational age and birth weight were higher in male than female newborns (p < 0.001). Increasing maternal pregravid weight led to increasing birth weight of both male and female newborns (p < 0.001). Furthermore, increasing maternal height and body mass index resulted in increasing birth weight of male and female newborns (p < 0.001). Thus, the fathers and mothers of male infants were older than those of female infants (p < 0.05), and increasing pre-gravid body weight, body height and body mass index were associated with a higher birth weight in both male and female newborns.