Objective: The fetal inflammatory response syndrome involving proinflammatory cytokines such as interleukin-6 (IL-6) has been associated with cystic periventricular leukomalacia (cPVL). We evaluated whether the development of cPVL is associated with the IL-6 G(−174)C polymorphism.
Methods: 52 children with cPVL were compared to 46 preterm and 395 term controls using retrospective cohort analysis. IL-6 genotyping was performed using an allele specific polymerase chain reaction technique.
Results: IL-6 G(−174)C polymorphisms did not differ between groups, but an association between mental retardation and the IL-6 C/C (78%) and G/C (43%) genotypes compared to the G/G (25%) genotype was found (p = 0.003 and 0.043, respectively; RR 3.11 (95% CI 1.54 to 6.29) and 1.79 (95% CI 1.10 to 2.92), respectively).
Conclusions: The IL-6 (−174) C/C and G/C genotypes were associated with mental retardation in cPVL and seem to modify the severity of perinatal brain injury.
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Competing interests: None.
Funding: The study was supported by scholarships from the Medical University of Graz and the Erich-Lackner-Stiftung (Erich Lackner Foundation).
The study has been presented in part at the Meeting of the European Society of Paediatric Research in Prague in October 2007 (oral presentation).
Ethics approval: Ethics approval was obtained from the Ethics Committee, Medical University of Graz.