Abstract
Background: Genetic polymorphisms might influence the development and severity of brain diseases of very-low-birth-weight-(VLBW)-infants, like intraventricular haemorrhage (IVH), periventricular leukomalacia (PVL) and hydrocephalus.
Methods: Genetic association study. 1136 infants were studied: 150 VLBW-infants with IVH and/or PVL, 696 VLBW-infants without IVH or PVL and 290 healthy term born infants. Subgroups of VLBW-infants who were compared to VLBW-infants with normal brain-ultrasound-studies included VLBW-infants with IVH grade IV or PVL (n= 54), VLBW-infants with IVH grade I-III (n= 96) and VLBW-infants who subsequently developed hydrocephalus requiring ventriculoperitoneal shunting (n= 27). Polymorphisms which were determined: factor-V-Leiden, prothrombin-G20210A, factor-VII-del/ins, toll-like-receptor4–896G, toll-like-receptor-2-Arg753Gln, NOD2–3020insC, interleukin-6-G(−174)C, plasminogen-activator-inhibitor-4G/5G, stromelysin1–6A/5A, CD14–159T, interleukin-4-C582T and lymphotoxin-alpha-A252G.
Results: Two polymorphisms were more frequent in VLBW-infants with abnormal ultrasound-studies. The homozygous lymphotoxin-alpha-A252G-polymorphism was more frequently found in VLBW-infants with hydrocephalus (33%) than in VLBW-infants without hydrocephalus (12.7%, OR 3.4, 95%CI 1.5–8, p= 0.002) and in healthy infants born at term (10.1%). The heterozygous or homozygous prothrombin-G20210A-polymorphism was more frequently found in VLBW-infants with IVH grade IV or PVL (9.1%) compared to VLBW-infants without IVH (2.9%, OR 3.3, 95%CI 1.2–9.3, p= 0.03) and healthy infants born at term (2.2%).
Conclusion: Although the majority of polymorphisms selected by our group was previously reported to be associated with intracranial haemorrhage or infarction in adults or VLBW-infants, we detected significant associations only for two polymorphisms. Our study underlines the importance of large cohorts in candidate gene association studies for severe diseases of VLBW-infants.
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Gopel, W., Ahrens, P., Entenmann, A. et al. 98 Genetic Polymorphisms As Determinants of Intraventricular Haemorrhage, Periventricular Leukomalacia and Hydrocephalus in Very-Low-Birth-Weight-Infants. Pediatr Res 56, 480 (2004). https://doi.org/10.1203/00006450-200409000-00121
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DOI: https://doi.org/10.1203/00006450-200409000-00121