Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy
2011

Association of NOS3 Gene Polymorphisms with Hypoxic-Ischemic Encephalopathy

Sample size: 238 publication 10 minutes Evidence: moderate

Author Information

Author(s): Šamija Radenka Kuzmanić, Primorac Dragan, Rešić Biserka, Lozić Bernarda, Krželj Vjekoslav, Tomasović Maja, Stoini Eugenio, Šamanović Ljubo, Benzon Benjamin, Pehlić Marina, Boraska Vesna, Zemunik Tatijana

Primary Institution: Department of Medical Biology, University of Split, School of Medicine, Split, Croatia

Hypothesis

To test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE).

Conclusion

Despite the limited number of HIE patients, we observed genotypic and haplotype associations of NOS3 polymorphisms with HIE.

Supporting Evidence

  • SNP rs1808593 showed genotype association with HIE (P=0.008).
  • rs1800783-rs1800779 TG haplotype showed an association with HIE (P<0.001).
  • The study had 80% statistical power to detect an effect with odds ratios for various SNPs.

Takeaway

The study looked at how certain genes might affect brain injury in babies. They found some links between gene variations and the risk of brain problems.

Methodology

The study included 110 children with HIE and 128 controls, analyzing 7 SNPs in the NOS3 gene using real-time PCR.

Limitations

The study had a small sample size and potential population stratification.

Participant Demographics

110 children with HIE (69 boys, 41 girls) and 128 controls (60 boys, 68 girls).

Statistical Information

P-Value

0.008

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.3325/cmj.2011.52.396

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