%0 Journal Article %1 endler_polymorphisms_2006 %A Endler, Georg %A Marculescu, Rodrig %A Starkl, Philipp %A Binder, Alexander %A Geishofer, Gotho %A Müller, Martin %A Zöhrer, Bettina %A Resch, Bernhard %A Zenz, Werner %A Mannhalter, Christine %D 2006 %J Clinical Chemistry %K Adolescent, Adult, Ancestry Child, Continental Disease, Europe, European Family, Female, Frequency, Gene Genetic Genotype, Group, Humans, Infant, Infections, Interleukin-1, Male, Meningococcal Multigene Newborn, Polymorphism, Predisposition Preschool, to %N 3 %P 511--4 %R 10.1373/clinchem.2005.058537 %T Polymorphisms in the interleukin-1 gene cluster in children and young adults with systemic meningococcemia %U http://www.ncbi.nlm.nih.gov/pubmed/16510430 %V 52 %X BACKGROUND: An association has been described between mortality in children with meningococcal disease and functional polymorphisms in the interleukin-1 (IL1) cluster. We undertook a multicenter study to evaluate associations of these polymorphisms in a Central European population. PATIENTS AND METHODS: The study involved 95 Middle European pediatric hospitals. We collected blood samples from, and clinical information about, 285 previously healthy children with meningococcal infection. We used a newly developed multiplexed mutagenic separated PCR assay to analyze 6 polymorphisms within the IL1 cluster: IL1A (-889)C/T, IL1A (+4845)G/T, IL1B (-511)C/T, IL1B (-31)C/T, IL1B (+3954), and IL1RA (+2018)C/T. We studied the same polymorphisms in a comparison group of 481 healthy newborns. RESULTS: Genotype frequencies between patients and the comparison group differed significantly only for the IL1RA (+2018)C/T variant: The CC genotype was more frequent in patients (11\%) than in healthy controls (5\%; P = 0.008). In the patient group, the C allele was significantly more prevalent (67\%) in nonsurvivors than in survivors (42\%; P = 0.02). CONCLUSION: The IL1RA (+2018)C/T polymorphism is associated with the risk of meningococcal disease and with its outcome.

@article{endler_polymorphisms_2006, abstract = {{BACKGROUND:} An association has been described between mortality in children with meningococcal disease and functional polymorphisms in the interleukin-1 {(IL1)} cluster. We undertook a multicenter study to evaluate associations of these polymorphisms in a Central European population. {PATIENTS} {AND} {METHODS:} The study involved 95 Middle European pediatric hospitals. We collected blood samples from, and clinical information about, 285 previously healthy children with meningococcal infection. We used a newly developed multiplexed mutagenic separated {PCR} assay to analyze 6 polymorphisms within the {IL1} cluster: {IL1A} {(-889)C/T,} {IL1A} {(+4845)G/T,} {IL1B} {(-511)C/T,} {IL1B} {(-31)C/T,} {IL1B} (+3954), and {IL1RA} {(+2018)C/T.} We studied the same polymorphisms in a comparison group of 481 healthy newborns. {RESULTS:} Genotype frequencies between patients and the comparison group differed significantly only for the {IL1RA} {(+2018)C/T} variant: The {CC} genotype was more frequent in patients (11\%) than in healthy controls (5\%; P = 0.008). In the patient group, the C allele was significantly more prevalent (67\%) in nonsurvivors than in survivors (42\%; P = 0.02). {CONCLUSION:} The {IL1RA} {(+2018)C/T} polymorphism is associated with the risk of meningococcal disease and with its outcome.}, added-at = {2011-03-11T10:05:34.000+0100}, author = {Endler, Georg and Marculescu, Rodrig and Starkl, Philipp and Binder, Alexander and Geishofer, Gotho and Müller, Martin and Zöhrer, Bettina and Resch, Bernhard and Zenz, Werner and Mannhalter, Christine}, biburl = {https://www.bibsonomy.org/bibtex/2b9112385b3bdbb9591ded42235388133/jelias}, doi = {10.1373/clinchem.2005.058537}, interhash = {a62b7bea4403f12903077bfd7e4dd125}, intrahash = {b9112385b3bdbb9591ded42235388133}, issn = {0009-9147}, journal = {Clinical Chemistry}, keywords = {Adolescent, Adult, Ancestry Child, Continental Disease, Europe, European Family, Female, Frequency, Gene Genetic Genotype, Group, Humans, Infant, Infections, Interleukin-1, Male, Meningococcal Multigene Newborn, Polymorphism, Predisposition Preschool, to}, month = mar, note = {{PMID:} 16510430}, number = 3, pages = {511--4}, timestamp = {2011-03-11T10:06:06.000+0100}, title = {Polymorphisms in the interleukin-1 gene cluster in children and young adults with systemic meningococcemia}, url = {http://www.ncbi.nlm.nih.gov/pubmed/16510430}, volume = 52, year = 2006 }