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Pregled bibliografske jedinice broj: 542346

Zbornik radova

Autori: Kuzmanić-Šamija, Radenka; Primorac, Dragan; Rešić, Biserka; Lozić, Bernarda; Krželj, Vjekoslav; Tomasović, Maja; Stojini, Eugenio; Pehlić, Marina; Boraska, Vesna; Zemunik; Tatijana
Naslov: Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy
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 (ur.). - Zagreb : International Society for Applied Biological Sciences , 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, Croatia, 20.24.06.2011.
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.
Vrsta sudjelovanja: Poster
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Projekt / tema: 216-1080315-0293
Izvorni jezik: ENG
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti
Upisao u CROSBI: tzemunik@mefst.hr (tzemunik@mefst.hr), 16. Stu. 2011. u 20:20 sati



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