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Polymorphisms in PARP, IL1B, IL4, IL10, C11NH, DEFB1 and DEFA4 in meningococcal disease in three populations.

Polymorphisms in PARP, IL1B, IL4, IL10, C11NH, DEFB1 and DEFA4 in meningococcal disease in three populations.
Polymorphisms in PARP, IL1B, IL4, IL10, C11NH, DEFB1 and DEFA4 in meningococcal disease in three populations.
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
1073-2322
Emonts, Marieke
5a700b04-6f36-4fbe-bd2c-5d046704f018
Vermont, Clementien L.
7eabc675-a01c-4ba6-bde9-dbee62a82c4c
Howing-Duistermaat, J.J.
7127ad16-78eb-42a8-8773-bba516223c53
Haralambous, Elene
42c86bc1-22ff-4eb2-b36b-619dadd0776c
Gaast-de Jongh, Christa E.
f267d0d9-9bcc-4fc6-9251-faf275723072
Hazelzet, Jan A.
4074a0d6-2090-44a0-9dd6-5d3516d311a8
Faust, Saul N.
f97df780-9f9b-418e-b349-7adf63e150c1
Betts, Helen
08c69a38-f3f5-445f-9cdb-353015fc4d67
Hermans, Peter W.M.
b73eea3a-6f6e-482b-89ec-94150e0252b0
Levin, Michael
2be78359-2a08-4885-a83c-4f7a6d1de986
de Groot, Ronald
d9b71914-7f52-4971-8a8b-69458d99bdf1
Emonts, Marieke
5a700b04-6f36-4fbe-bd2c-5d046704f018
Vermont, Clementien L.
7eabc675-a01c-4ba6-bde9-dbee62a82c4c
Howing-Duistermaat, J.J.
7127ad16-78eb-42a8-8773-bba516223c53
Haralambous, Elene
42c86bc1-22ff-4eb2-b36b-619dadd0776c
Gaast-de Jongh, Christa E.
f267d0d9-9bcc-4fc6-9251-faf275723072
Hazelzet, Jan A.
4074a0d6-2090-44a0-9dd6-5d3516d311a8
Faust, Saul N.
f97df780-9f9b-418e-b349-7adf63e150c1
Betts, Helen
08c69a38-f3f5-445f-9cdb-353015fc4d67
Hermans, Peter W.M.
b73eea3a-6f6e-482b-89ec-94150e0252b0
Levin, Michael
2be78359-2a08-4885-a83c-4f7a6d1de986
de Groot, Ronald
d9b71914-7f52-4971-8a8b-69458d99bdf1

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)

Record type: Article

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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Published date: July 2010

Identifiers

Local EPrints ID: 72924
URI: http://eprints.soton.ac.uk/id/eprint/72924
ISSN: 1073-2322
PURE UUID: df9ae402-06f1-4de3-9a19-0adaa15053de
ORCID for Saul N. Faust: ORCID iD orcid.org/0000-0003-3410-7642

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Date deposited: 26 Feb 2010
Last modified: 14 Mar 2024 02:51

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Contributors

Author: Marieke Emonts
Author: Clementien L. Vermont
Author: J.J. Howing-Duistermaat
Author: Elene Haralambous
Author: Christa E. Gaast-de Jongh
Author: Jan A. Hazelzet
Author: Saul N. Faust ORCID iD
Author: Helen Betts
Author: Peter W.M. Hermans
Author: Michael Levin
Author: Ronald de Groot

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