Naslov
Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy

Autori
Kuzmanić-Šamija, Radenka ; Primorac, Dragan ; Rešić, Biserka ; Lozić, Bernarda ; Krželj, Vjekoslav ; Tomasović, Maja ; Stojini, Eugenio ; Pehlić, Marina ; Boraska, Vesna ; Zemunik ; Tatijana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Final program and abstracts, The seventh ISABS conference in forensic, anthropologic and medical genetics and Mayo Clinic lectures in translational medicine / ISABS and Croatian Academy of Science and Arts - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 186-186

Skup
The seventh ISABS conference in forensic, anthropologic and medical genetics and Mayo Clinic lectures in translational medicine

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 24.06.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Nitric oxide; Endothelial nitric oxide synthase (NOS3); tagging polymorphisms; Hypoxic-ischemic encephalopathy; children

Sažetak
Perinatal hypoxic-ischemic encephalopathy (HIE) is characterized with impaired cerebral circulation and increased activity of nitric oxide synthase (NOS). Activation of the NOS3 in endothelial cells has a neuroprotective role. Aim of this study was to test the association of NOS3 gene with HIE. The study included 110 unrelated term or preterm born children (69 boys and 41girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any perinatal problems. 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 analysed 6 tagging SNPs within NOS3 gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983) in addition to previously confirmed NOS3- associated SNP rs1800779. Genotyping was conducted using “Real-time” PCR. Association analyses were performed under the additive and genotypic model. Results: Allelic test did not observe any SNP association with HIE. Genotypic test detected association of rs1808593 tag SNP with HIE (χ2= 9.625, p=0.0081). We also observed rs1800783-1800779 TG haplotype association with HIE (χ2= 11.769, p=6x10-4). Our study had 80% statistical power to detect (at α=0.05) an effect of [OR]=2.07 for rs3918186, [OR]=1.69 for rs3918188, [OR]=1.70 for rs1800783, [OR]=1.80 for rs1808593, [OR]=2.1 for rs3918227, [OR]=1.68 for rs1800779, [OR]=1.76 for rs1799983, assuming an additive model. Despite the limited number of HIE patients that reduced statistical power of this study, we observed genotypic and haplotype associations of NOS3 polymorphisms with HIE.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA