Objective: The foetal inflammatory response syndrome including proinflammatory cytokines like interleukin-6 (IL-6) has been associated with cystic periventricular leukomalacia (cPVL). We evaluated whether the development of cPVL is associated with IL-6 G(-174)C polymorphism.
Design: Retrospective cohort analysis.
Setting: Tertiary care university hospital.
Patients: Children with cPVL from a single centre cohort were compared to preterm and term controls.
Interventions: IL-6 genotyping was performed using an allele specific polymerase chain reaction technique.
Main outcome measures: Association of IL-6 genotypes with disease and severity of brain damage.
Results: Fifty-two cases were compared to 46 preterm and 395 term controls, respectively. IL-6 G(-174)C polymorphisms did not differ between groups, but an association between mental retardation and IL-6 C/C (78%) and G/C (43%) compared to G/G (25%) genotype was found in cases (p=0.003 and 0.043, respectively; relative risks 3.11 [CI 95% 1.54-6.29] and 1.79 [CI95% 1.10-2.92], respectively).
Conclusions: The IL-6 (-174) C/C and G/C genotypes were found to be associated with mental retardation in cPVL and, thus, seem to modify the severity of perinatal brain injury.