title: Genetic factors that influence short-term neurodevelopmental outcome in term hypoxic-ischaemic encephalopathic neonates.
abstract: It is difficult to predict outcome in neonates that experience perinatal hypoxic ischaemia. Morbidity and mortality may be affected by genetic factors that augment inflammatory and coagulative responses. This prospective study analysed the effects of proinflammatory cytokine gene polymorphisms  (tumour necrosis factor-α [TNFA] 308G>A and interleukin-6 [IL6] 174G>C) and prothrombotic factor gene mutations (prothrombin G20210A, factor V Leiden G1691A and methylenetetra hydrofolate reductase [MTHFR] C677T) on the early  neurological prognosis in 40 term hypoxic ischaemic encephalopathic neonates. There were significant relationships for Sarnat and Sarnat staging with electroencephalographic findings, transfontanelle ultrasound (US) results, early neonatal outcome and neurological morbidity. Genetic mutations  in the prothrombotic proteins, the TNFA 308G>A polymorphism and the cerebrospinal fluid levels of TNF-α protein were not related to clinical stage, electroencephalography, transfontanelle US or neurological status at discharge or at postnatal months 6 and 12. The IL6  174GC genotype demonstrated a protective role, being significantly correlated with normal electroencephalography, transfontanelle US and normal neurological findings at discharge. In conclusion, the IL6 174GC gene polymorphism seems to play a role in determining the risk and/or severity  of perinatal cerebral injury.
authors: Department of Neonatology, Faculty of Medicine, Ege University, Izmir, Turkey.
authors: S
authors: S
authors: Calkavur
authors: M
authors: M
authors: Akisu
authors: O
authors: O
authors: Olukman
authors: Z
authors: Z
authors: Balim
authors: A
authors: A
authors: Berdeli
authors: B
authors: B
authors: Cakmak
authors: O
authors: O
authors: Koroglu
authors: M
authors: M
authors: Yalaz
authors: N
authors: N
authors: Kultursay
mesh_terms: D001238:Asphyxia Neonatorum / Q000150:complications* / Q000000981:diagnostic imaging / Q000401:mortality; D003128:Coma / Q000209:etiology; D004252:DNA Mutational Analysis; D004453:Echoencephalography; D005165:Factor V / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D020925:Hypoxia-Ischemia, Brain / Q000150:complications* / Q000000981:diagnostic imaging / Q000401:mortality; D007231:Infant, Newborn; D015850:Interleukin-6 / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009102:Multiple Organ Failure / Q000209:etiology; D009123:Muscle Hypotonia / Q000209:etiology; D009422:Nervous System Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000401:mortality; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D011516:Prothrombin / Q000235:genetics; D012640:Seizures / Q000209:etiology; D014409:Tumor Necrosis Factor-alpha / Q000134:cerebrospinal fluid / Q000235:genetics
chemical_list: C508600:IL6 protein, human; D015850:Interleukin-6; D014409:Tumor Necrosis Factor-alpha; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)