Emonts, Marieke, Vermont, Clementien L., Howing-Duistermaat, J.J., Haralambous, Elene, Gaast-de Jongh, Christa E., Hazelzet, Jan A., Faust, Saul N., Betts, Helen, Hermans, Peter W.M., Levin, Michael and de Groot, Ronald (2010) Polymorphisms in PARP, IL1B, IL4, IL10, C11NH, DEFB1 and DEFA4 in meningococcal disease in three populations. Shock. (doi:10.1097/SHK.0b013e3181ce2c7d). (PMID:20016407)
Abstract
Objective: the pathogenesis of meningococcal infections involves activation of the complement system, pro- and anti-inflammatory mediators, antimicrobial peptides and apoptosis. We hypothesized that variations in genes encoding these products are involved in the susceptibility to and severity of pediatric meningococcal infections.
Study design: polymorphisms in PARP, C1INH, IL4, IL10 and IL1B, DEFA4 and DEFB1 were analyzed in two independent Caucasian case control cohorts from the UK and the Netherlands and in a family based TDT cohort from the UK
Results: in the UK case control cohort the DEFB1 -44 G/G homozygous genotype was overrepresented in patients with meningococcal disease compared to the G/C and C/C genotypes when combined (OR 1.57, 95% CI 1.12-2.20). The TDT analysis did not confirm this, but did find an association and linkage of the IL4 -524 and the C1INH 480 polymorphisms with susceptibility to meningococcal infection. Hematological failure was present more often in UK patients with the DEFB1 -44 G/G genotype compared to the C allele carriers (OR 2.17, 95% CI 1.22-3.85).
Conclusions: additional studies are necessary to elucidate the conflicting results obtained for the DEFB1, IL4 and C1INH polymorphisms and their role in susceptibility to and severity of meningococcal disease
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