Naslov
NOS3 gene variants are associated with development of hypoxic-ischemic encephalopathy, intensity of brain damage and severity of clinical presentation

Autori
Kuzmanić-Šamija, Radenka ; Madžar, Tomislav ; Rešić, Biserka ; Krželj, Vjekoslav ; Čapkun, Vesna ; Punda, Hrvoje ; Lozić, Bernarda ; Zemunik, Tatijana

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

Izvornik
Final program and abstracts, The eighth 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), 2012, 269-269

Skup
The eighth ISABS conference in forensic, anthropologic and medical genetics and Mayo clinic lectures in translational medicine

Mjesto i datum
Split, Hrvatska, 24.06.2013. - 28.06.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
hypoxic-ischemic encephalopathy; polymorphisms

Sažetak
Aim: The aim of this study was to analyze the correlation of different clinical parameters of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. Methods: A total of 110 children with hypoxic-ischemic encephalopathy and 128 control children were selected for this study. Sex, gestational age, birth weight, Apgar score, cranial ultrasonography and magnetic resonance imaging findings were correlated with genotypic data of six haplotype-tagging single nucleotide polymorphisms and most commonly investigated rs1800779 and rs2070744 SNPs. Results: The TGT haplotype of rs1800783, rs1800779 and rs2070744 polymorphisms showed association with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and they have the worst degree of brain damage. Higher incidence of TT genotype of NOS3, rs1808593 SNP in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage were found. Probability of brain damage was twice higher in children with the TT than TG genotype of the same polymorphism. Furthermore, the T allele of the same polymorphism was twice frequent in children with lower Apgar score. The incidence of hypoxic-ischemic brain damage was up to two times higher in male than in female children. The occurrence of disease was almost two times higher in children with lower Apgar index and around 1.5 times higher in children with lower birth weight and lower gestational age. Conclusion: This study strongly suggests associations of NOS3 gene polymorphism with the intensity of brain damage and severe of clinical picture of affected children.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

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