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1. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

Author

Torgerson, Dara G, Ampleford, Elizabeth J, Chiu, Grace Y, Gauderman, W James, Gignoux, Christopher R, Graves, Penelope E, Himes, Blanca E, Levin, Albert M, Mathias, Rasika A, Hancock, Dana B, Baurley, James W, Eng, Celeste, Stern, Debra A, Celedón, Juan C, Rafaels, Nicholas, Capurso, Daniel, Conti, David V, Roth, Lindsey A, Soto-Quiros, Manuel, Togias, Alkis, Li, Xingnan, Myers, Rachel A, Romieu, Isabelle, Van Den Berg, David J, Hu, Donglei, Hansel, Nadia N, Hernandez, Ryan D, Israel, Elliott, Salam, Muhammad T, Galanter, Joshua, Avila, Pedro C, Avila, Lydiana, Rodriquez-Santana, Jose R, Chapela, Rocio, Rodriguez-Cintron, William, Diette, Gregory B, Adkinson, N Franklin, Abel, Rebekah A, Ross, Kevin D, Shi, Min, Faruque, Mezbah U, Dunston, Georgia M, Watson, Harold R, Mantese, Vito J, Ezurum, Serpil C, Liang, Liming, Ruczinski, Ingo, Ford, Jean G, Huntsman, Scott, Chung, Kian Fan, Vora, Hita, Li, Xia, Calhoun, William J, Castro, Mario, Sienra-Monge, Juan J, del Rio-Navarro, Blanca, Deichmann, Klaus A, Heinzmann, Andrea, Wenzel, Sally E, Busse, William W, Gern, James E, Lemanske, Robert F, Beaty, Terri H, Bleecker, Eugene R, Raby, Benjamin A, Meyers, Deborah A, London, Stephanie J, Mexico City Childhood Asthma Study (MCAAS), Gilliland, Frank D, Children's Health Study (CHS) and HARBORS study, Burchard, Esteban G, Genetics of Asthma in Latino Americans (GALA) Study, Study of Genes-Environment and Admixture in Latino Americans (GALA2) and Study of African Americans, Asthma, Genes & Environments (SAGE), Martinez, Fernando D, Childhood Asthma Research and Education (CARE) Network, Weiss, Scott T, Childhood Asthma Management Program (CAMP), Williams, L Keoki, Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE), Barnes, Kathleen C, Genetic Research on Asthma in African Diaspora (GRAAD) Study, Ober, Carole, and Nicolae, Dan L

Subjects
Mexico City Childhood Asthma Study, Children's Health Study (CHS) and HARBORS study, Genetics of Asthma in Latino Americans (GALA) Study, Study of Genes-Environment and Admixture in Latino Americans (GALA2) and Study of African Americans, Asthma, Genes & Environments, Childhood Asthma Research and Education (CARE) Network, Childhood Asthma Management Program, Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity, Genetic Research on Asthma in African Diaspora (GRAAD) Study, Humans, Asthma, Genetic Predisposition to Disease, Risk, African Americans, European Continental Ancestry Group, Hispanic Americans, Caribbean Region, North America, Genome-Wide Association Study, Genetic Loci, Genetics of Asthma in Latino Americans (GALA) Study, Study of Genes-Environment and Admixture in Latino Americans (GALA2) and Study of African Americans, Genes & Environments, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

Asthma is a common disease with a complex risk architecture including both genetic and environmental factors. We performed a meta-analysis of North American genome-wide association studies of asthma in 5,416 individuals with asthma (cases) including individuals of European American, African American or African Caribbean, and Latino ancestry, with replication in an additional 12,649 individuals from the same ethnic groups. We identified five susceptibility loci. Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). These results suggest that some asthma susceptibility loci are robust to differences in ancestry when sufficiently large samples sizes are investigated, and that ancestry-specific associations also contribute to the complex genetic architecture of asthma.

Published
2011

4. Cloning Vectors

Author

Deichmann, Annette, Deichmann, Klaus, Hildebrandt, Friedhelm, editor, and Igarashi, Peter, editor

Published
1999
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5. Sequencing

Author

Deichmann, Klaus, Hildebrandt, Friedhelm, editor, and Igarashi, Peter, editor

Published
1999
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6. Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function

Author

Ober, Carole, Zheng Tan, Ying Sun, Nicolae, Dan L., Possick, Jennifer D., Lin Pan, Nicolae, Raluca, Radford, Sadie, Parry, Rodney R., Elias, Jack A., Chupp, Geoffrey L., Heinzmann, Andrea, Deichmann, Klaus A., Lester, Lucille A., Gern, James E., and Lemanske, Robert F., Jr.

Subjects
Asthma -- Genetic aspects, Blood proteins -- Evaluation, Blood proteins -- Health aspects
Abstract

A study was conducted to determine the effects of elevated levels of serum YKL-40 and the presence of the gene CHI3L1 in asthma patients and susceptibility to reduced lung function. Results revealed that the presence of both the factors contributed to the aggravation of asthma and reduced lung function.

Published
2008

21. A European study on the genetics of mite sensitization

Author

Kurz, Thorsten, Strauch, Konstantin, Heinzmann, Andrea, Braun, Sandra, Jung, Martin, Rüschendorf, Franz, Moffatt, Miriam F., Cookson, William O.C.M., Inacio, Filipe, Ruffilli, Anna, Nordskov-Hansen, Gitte, Peltre, Gabriel, Forster, Johannes, Kuehr, Joachim, Reis, André, Wienker, Thomas F., and Deichmann, Klaus A.

Published
2000
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25. Distinct signal transduction processes by IL-4 and IL-13 and influences from the Q551R variant of the human IL-4 receptor alpha chain

Author

Braun Sandra, Kruse Susanne, and Deichmann Klaus A

Subjects
asthma, IL-4, IL-13, SHP, STAT3, Diseases of the respiratory system, RC705-779
Abstract

Abstract Background Although IL-4 and IL-13 share the IL-13 receptor, IL-13 exhibits unique functions. To elicit the cellular basis of these differences, signal transduction processes have been compared. Additionally, the role of the IL-4 receptor alpha (IL-4Rα) variant Q551R was investigated. Methods Peripheral blood mononuclear cells from donors were stimulated with IL-4 and IL-13. The phosphorylation status of effector substrates was detected by immunostaining. Binding of SHP-2 to IL-4Rα was investigated by using synthetic peptides. Results SHP-2 bound IL-4Rα synthetic peptide; this binding was reduced in the presence of the R551 variant. Stimulation with IL-4 increased SHP-1 phosphorylation, however, stimulation with IL-13 increased SHP-2 phosphorylation. PI3-kinase phosphorylation was elevated following stimulation with IL-13 in all individuals and with IL-4 only in R551 individuals. Jak1, Tyk2 and IRS-2 signals were reduced after IL-13 stimulation in Q551 individuals. STAT3 phosphorylation was markedly increased in R551 individuals, following stimulation with both IL-4 and IL-13. However, STAT3 was only detected immediately in nuclear extracts from variant individuals after stimulation with IL-13; in wildtype individuals STAT3 was only detected after IL-4 treatment. Conclusion IL-4 and IL-13 appear to promote distinct signal transduction cascades. SHP-1 seems to be predominately activated by IL-4 and to influence the PI3-kinase, in contrast, SHP-2 seems to be predominately activated by IL-13 and to influence Jak1, Tyk2 and IRS-2. Both phosphatases control STAT3. In the presence of the variant R551, SHP-1/2 activation is reduced and signal transduction is altered. STAT3 signaling appears be further regulated on the level of nuclear translocation.

Published
2002
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29. A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

Author

Smith, Dirk, primary, Helgason, Hannes, additional, Sulem, Patrick, additional, Bjornsdottir, Unnur Steina, additional, Lim, Ai Ching, additional, Sveinbjornsson, Gardar, additional, Hasegawa, Haruki, additional, Brown, Michael, additional, Ketchem, Randal R., additional, Gavala, Monica, additional, Garrett, Logan, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Magnusson, Olafur T., additional, Eyjolfsson, Gudmundur I., additional, Olafsson, Isleifur, additional, Onundarson, Pall Torfi, additional, Sigurdardottir, Olof, additional, Gislason, David, additional, Gislason, Thorarinn, additional, Ludviksson, Bjorn Runar, additional, Ludviksdottir, Dora, additional, Boezen, H. Marike, additional, Heinzmann, Andrea, additional, Krueger, Marcus, additional, Porsbjerg, Celeste, additional, Ahluwalia, Tarunveer S., additional, Waage, Johannes, additional, Backer, Vibeke, additional, Deichmann, Klaus A., additional, Koppelman, Gerard H., additional, Bønnelykke, Klaus, additional, Bisgaard, Hans, additional, Masson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Johnston, James A., additional, Jonsdottir, Ingileif, additional, and Stefansson, Kari, additional

Published
2017
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30. A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

Author

Smith, Dirk, Helgason, Hannes, Sulem, Patrick, Bjornsdottir, Unnur Steina, Lim, Ai Ching, Sveinbjornsson, Gardar, Hasegawa, Haruki, Brown, Michael, Ketchem, Randal R, Gavala, Monica, Garrett, Logan, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Magnusson, Olafur T, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Onundarson, Pall Torfi, Sigurdardottir, Olof, Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn Runar, Ludviksdottir, Dora, Boezen, H Marike, Heinzmann, Andrea, Krueger, Marcus, Porsbjerg, Celeste, Ahluwalia, Tarunveer S, Waage, Johannes, Backer, Vibeke, Deichmann, Klaus A, Koppelman, Gerard H, Bønnelykke, Klaus, Bisgaard, Hans, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Johnston, James A, Jonsdottir, Ingileif, Stefansson, Kari, Smith, Dirk, Helgason, Hannes, Sulem, Patrick, Bjornsdottir, Unnur Steina, Lim, Ai Ching, Sveinbjornsson, Gardar, Hasegawa, Haruki, Brown, Michael, Ketchem, Randal R, Gavala, Monica, Garrett, Logan, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Magnusson, Olafur T, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Onundarson, Pall Torfi, Sigurdardottir, Olof, Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn Runar, Ludviksdottir, Dora, Boezen, H Marike, Heinzmann, Andrea, Krueger, Marcus, Porsbjerg, Celeste, Ahluwalia, Tarunveer S, Waage, Johannes, Backer, Vibeke, Deichmann, Klaus A, Koppelman, Gerard H, Bønnelykke, Klaus, Bisgaard, Hans, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Johnston, James A, Jonsdottir, Ingileif, and Stefansson, Kari

Abstract

IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic disease. Common variants at IL33 and IL1RL1, encoding the IL-33 receptor ST2, associate with eosinophil counts and asthma. Through whole-genome sequencing and imputation into the Icelandic population, we found a rare variant in IL33 (NM_001199640:exon7:c.487-1G>C (rs146597587-C), allele frequency = 0.65%) that disrupts a canonical splice acceptor site before the last coding exon. It is also found at low frequency in European populations. rs146597587-C associates with lower eosinophil counts (β = -0.21 SD, P = 2.5×10-16, N = 103,104), and reduced risk of asthma in Europeans (OR = 0.47; 95%CI: 0.32, 0.70, P = 1.8×10-4, N cases = 6,465, N controls = 302,977). Heterozygotes have about 40% lower total IL33 mRNA expression than non-carriers and allele-specific analysis based on RNA sequencing and phased genotypes shows that only 20% of the total expression is from the mutated chromosome. In half of those transcripts the mutation causes retention of the last intron, predicted to result in a premature stop codon that leads to truncation of 66 amino acids. The truncated IL-33 has normal intracellular localization but neither binds IL-33R/ST2 nor activates ST2-expressing cells. Together these data demonstrate that rs146597587-C is a loss of function mutation and support the hypothesis that IL-33 haploinsufficiency protects against asthma.

Published
2017

31. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

Author

Gudbjartsson, Daniel F., Bjornsdottir, Unnur S., Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M., Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M., James, Alan, Palmer, Lyle J., Koppelman, Gerard H., Heinzmann, Andrea, Krueger, Marcus, Boezen, H. Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M., Porsbjerg, Celeste, Hansen, Jakob W., Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C. Y., Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H., Granger, Christopher B., Quyyumi, Arshed A., Levey, Allan I., Vaccarino, Viola, Reilly, Muredach P., Rader, Daniel J., Williams, Michael J. A., van Rij, Andre M., Jones, Gregory T., Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R., Ludviksdottir, Dora, Eyjolfsson, Gudmundur I., Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J., Wjst, Matthias, Hall, Ian P., Postma, Dirkje S., Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Stefansson, Kari, Gudbjartsson, Daniel F., Bjornsdottir, Unnur S., Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M., Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M., James, Alan, Palmer, Lyle J., Koppelman, Gerard H., Heinzmann, Andrea, Krueger, Marcus, Boezen, H. Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M., Porsbjerg, Celeste, Hansen, Jakob W., Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C. Y., Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H., Granger, Christopher B., Quyyumi, Arshed A., Levey, Allan I., Vaccarino, Viola, Reilly, Muredach P., Rader, Daniel J., Williams, Michael J. A., van Rij, Andre M., Jones, Gregory T., Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R., Ludviksdottir, Dora, Eyjolfsson, Gudmundur I., Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J., Wjst, Matthias, Hall, Ian P., Postma, Dirkje S., Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, and Stefansson, Kari

Abstract

Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10(-14), 5.4 x 10(-10), 8.6 x 10(-17), 1.2 x 10(-10) and 6.5 x 10(-19), respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10(-6), 2.2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).

Published
2009
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32. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

Author

Gudbjartsson, Daniel F, Bjornsdottir, Unnur S, Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M, Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M, James, Alan, Palmer, Lyle J, Koppelman, Gerard H, Heinzmann, Andrea, Krueger, Marcus, Boezen, H Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M, Porsbjerg, Celeste, Hansen, Jakob W, Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C Y, Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H, Granger, Christopher B, Quyyumi, Arshed A, Levey, Allan I, Vaccarino, Viola, Reilly, Muredach P, Rader, Daniel J, Williams, Michael J A, van Rij, Andre M, Jones, Gregory T, Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R, Ludviksdottir, Dora, Eyjolfsson, Gudmundur I, Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J, Wjst, Matthias, Hall, Ian P, Postma, Dirkje S, Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Stefansson, Kari, Gudbjartsson, Daniel F, Bjornsdottir, Unnur S, Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M, Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M, James, Alan, Palmer, Lyle J, Koppelman, Gerard H, Heinzmann, Andrea, Krueger, Marcus, Boezen, H Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M, Porsbjerg, Celeste, Hansen, Jakob W, Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C Y, Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H, Granger, Christopher B, Quyyumi, Arshed A, Levey, Allan I, Vaccarino, Viola, Reilly, Muredach P, Rader, Daniel J, Williams, Michael J A, van Rij, Andre M, Jones, Gregory T, Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R, Ludviksdottir, Dora, Eyjolfsson, Gudmundur I, Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J, Wjst, Matthias, Hall, Ian P, Postma, Dirkje S, Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, and Stefansson, Kari

Abstract

Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10(-14), 5.4 x 10(-10), 8.6 x 10(-17), 1.2 x 10(-10) and 6.5 x 10(-19), respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10(-6), 2.2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).

Published
2009

33. Polymorphisms in the IL18 gene are associated with specific sensitization to common allergens and allergic rhinitis

Author

Kruse, Susanne, Kuehr, Joachim, Moseler, Michael, Kopp, Matthias, Kurz, Thorsten, Deichmann, Klaus, Foster, Paul S, Mattes, Joerg, Kruse, Susanne, Kuehr, Joachim, Moseler, Michael, Kopp, Matthias, Kurz, Thorsten, Deichmann, Klaus, Foster, Paul S, and Mattes, Joerg

Abstract

Background: Atopy has been linked to chromosome 11q22, a region that harbors the IL18 gene. IL-18 enhances IL-4/IL-13 production and induces IgE production that is directly associated with the pathogenesis of atopic disorders. Objective: We sought to investigate whether genetic abnormalities in the regulatory regions of the IL18 gene predispose, in part, to susceptibility to atopy. Methods: Among a white population of 105 families, the oldest child was examined with regard to atopic phenotypes and single-nucleotide polymorphisms (SNPs) within the IL18 gene. Results: We have identified 5 novel SNPs in the IL18 gene (-920[t/c], -133[c/g], and -132[a/g] in promoter 2 [upstream of exon 2]; +179[c/a; Ser35Ser] in exon 4; and +486[c/t; Phe137Phe] in exon 6). Three SNPs are located in promoter 2, and one (-133[c/g]; nuclear factor 1 site) was significantly associated with high serum IgE leveis (P = .001; odds ratio, 3.96) and specific sensitization to common allergens (P = .005; OR, 4.12). In addition, previously identified SNPs in exon 1 (+113[t/g] and +127[c/t]) and in promoter 1 (-137[g/c], GATA3 site) of the IL18 gene were significantly associated with high IgE levels (P ≤ .005; OR, 3.27-3.90) and specific sensitization (P = .02 to .008; OR, 3.27-3.83). The SNP +127(g/t) in exon 1 was also a susceptibility locus for seasonal allergic rhinitis (P = .008; OR, 3.22). Conclusion: IL18 might be responsible for the linkage effects seen in the chromosomal region 11q22, which has been found previously with the phenotype "sensitization to mite allergen." Thus a suspected direct role of IL18 in the pathogenesis of atopy has been strengthened by the presence of 8 common SNPs in the promoter regions of IL18.

Published
2003

34. A sequence variant on 17q21 is associated with age at onset and severity of asthma

Author

Halapi, Eva, primary, Gudbjartsson, Daniel F, additional, Jonsdottir, Gudrun M, additional, Bjornsdottir, Unnur S, additional, Thorleifsson, Gudmar, additional, Helgadottir, Hafdis, additional, Williams, Carolyn, additional, Koppelman, Gerard H, additional, Heinzmann, Andrea, additional, Boezen, H Marike, additional, Jonasdottir, Aslaug, additional, Blondal, Thorarinn, additional, Gudjonsson, Sigurjon A, additional, Jonasdottir, Adalbjorg, additional, Thorlacius, Theodora, additional, Henry, Amanda P, additional, Altmueller, Janine, additional, Krueger, Marcus, additional, Shin, Hyoung Doo, additional, Uh, Soo-Taek, additional, Cheong, Hyun Sub, additional, Jonsdottir, Brynja, additional, Ludviksson, Bjorn R, additional, Ludviksdottir, Dora, additional, Gislason, David, additional, Park, Choon-Sik, additional, Deichmann, Klaus, additional, Thompson, Philip J, additional, Wjst, Matthias, additional, Hall, Ian P, additional, Postma, Dirkje S, additional, Gislason, Thorarinn, additional, Kong, Augustine, additional, Jonsdottir, Ingileif, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2010
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35. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

Author

Gudbjartsson, Daniel F, primary, Bjornsdottir, Unnur S, additional, Halapi, Eva, additional, Helgadottir, Anna, additional, Sulem, Patrick, additional, Jonsdottir, Gudrun M, additional, Thorleifsson, Gudmar, additional, Helgadottir, Hafdis, additional, Steinthorsdottir, Valgerdur, additional, Stefansson, Hreinn, additional, Williams, Carolyn, additional, Hui, Jennie, additional, Beilby, John, additional, Warrington, Nicole M, additional, James, Alan, additional, Palmer, Lyle J, additional, Koppelman, Gerard H, additional, Heinzmann, Andrea, additional, Krueger, Marcus, additional, Boezen, H Marike, additional, Wheatley, Amanda, additional, Altmuller, Janine, additional, Shin, Hyoung Doo, additional, Uh, Soo-Taek, additional, Cheong, Hyun Sub, additional, Jonsdottir, Brynja, additional, Gislason, David, additional, Park, Choon-Sik, additional, Rasmussen, Linda M, additional, Porsbjerg, Celeste, additional, Hansen, Jakob W, additional, Backer, Vibeke, additional, Werge, Thomas, additional, Janson, Christer, additional, Jönsson, Ulla-Britt, additional, Ng, Maggie C Y, additional, Chan, Juliana, additional, So, Wing Yee, additional, Ma, Ronald, additional, Shah, Svati H, additional, Granger, Christopher B, additional, Quyyumi, Arshed A, additional, Levey, Allan I, additional, Vaccarino, Viola, additional, Reilly, Muredach P, additional, Rader, Daniel J, additional, Williams, Michael J A, additional, van Rij, Andre M, additional, Jones, Gregory T, additional, Trabetti, Elisabetta, additional, Malerba, Giovanni, additional, Pignatti, Pier Franco, additional, Boner, Attilio, additional, Pescollderungg, Lydia, additional, Girelli, Domenico, additional, Olivieri, Oliviero, additional, Martinelli, Nicola, additional, Ludviksson, Bjorn R, additional, Ludviksdottir, Dora, additional, Eyjolfsson, Gudmundur I, additional, Arnar, David, additional, Thorgeirsson, Gudmundur, additional, Deichmann, Klaus, additional, Thompson, Philip J, additional, Wjst, Matthias, additional, Hall, Ian P, additional, Postma, Dirkje S, additional, Gislason, Thorarinn, additional, Gulcher, Jeffrey, additional, Kong, Augustine, additional, Jonsdottir, Ingileif, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2009
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36. Effect of Variation inCHI3L1on Serum YKL-40 Level, Risk of Asthma, and Lung Function

Author

Ober, Carole, primary, Tan, Zheng, additional, Sun, Ying, additional, Possick, Jennifer D., additional, Pan, Lin, additional, Nicolae, Raluca, additional, Radford, Sadie, additional, Parry, Rodney R., additional, Heinzmann, Andrea, additional, Deichmann, Klaus A., additional, Lester, Lucille A., additional, Gern, James E., additional, Lemanske, Robert F., additional, Nicolae, Dan L., additional, Elias, Jack A., additional, and Chupp, Geoffrey L., additional

Published
2008
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47. Polymorphisms of theTGF-β 1gene are not associated with bronchial asthma in Caucasian children.

Author

Heinzmann, Andrea, Bauer, Esther, Ganter, Kerstin, Kurz, Thorsten, and Deichmann, Klaus A.

Subjects
ASTHMA, GENETIC polymorphisms, ALLERGIES, INFLAMMATION, CYTOKINES, LINKAGE (Genetics)
Abstract

Heinzmann A, Bauer E, Ganter K, Kurz T, Deichmann KA. Polymorphisms of theTGF-β1gene are not associated with bronchial asthma in Caucasian children.Pediatr Allergy Immunol 2005: 16: 310–314.© 2005 Blackwell MunksgaardThe chromosomal region 19q13 has been found in linkage to allergic diseases in several genome-wide linkage screens. One candidate gene within this region is the gene coding forTGF-β 1. Transforming growth factor (TGF)-β acts as an anti-inflammatory cytokine suppressing allergic inflammation and hyper-reactivity. However, in ongoing inflammation of the lungs it can induce fibrosis and airway remodelling as seen in chronic asthma. Several polymorphisms withinTGF-β 1have been identified and one,−C509T, has been shown to be in association with elevated immunoglobulin E levels and severe bronchial asthma in different populations. However, other studies failed to confirm the association. The present study investigated two polymorphisms within the gene coding forTGF-β 1,−C509T and G915C, and for their potential association with bronchial asthma in Caucasian children. Genotyping of these polymorphisms was performed by means of restriction fragment length polymorphisms in a population of 231 asthmatic children and a control population of 269 individuals. Statistical analyses made use of the Armitage's trend test. In addition haplotypes were calculated byarlequin. None of the two polymorphisms showed association with bronchial asthma. They were found to be in linkage disequilibrium. We conclude from our data thatTGF-β 1is unlikely to represent a major gene in the development of bronchial asthma in the Caucasian population. [ABSTRACT FROM AUTHOR]

Published
2005
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48. Meta-analysis for linkage to asthma and atopy in the chromosome 5q31–33 candidate region.

Author

Palmer, Lyle J., Barnes, Kathleen C., Burton, Paul R., Chen, Hong, Cookson, William O. C. M., Deichmann, Klaus A., Elston, Robert C., Holloway, John W., Jacobs, Kevin B., Laitinen, Tarja, and Wjst, Matthias

Abstract

Asthma is a common, complex human disease. Gene discovery in asthma has been complicated by substantial etiological heterogeneity, the possibility of genes of small effect and the concomitant requirement for large sample sizes. Linkage to asthma phenotypes has been investigated most intensively in the 5q chromosomal region, although results have been inconsistent across studies and all studies have had modest sample sizes. One potential solution to these issues is to combine data from multiple studies in a retrospective meta-analysis by pooling either summary statistics or raw data. The International Consortium on Asthma Genetics combined data from 11 data sets (n = 6277 subjects) to investigate evidence for linkage of 35 markers spanning the cytokine cluster on chromosome 5q31–33 to ‘asthma’ dichotomy and total serum immunoglobulin E (IgE) levels. Chromosome 5q markers typed in different centers were integrated into a consensus map to facilitate effective data pooling. Multipoint linkage analyses using a new Haseman–Elston method were performed with all data sets pooled together, and also separately with the resulting linkage statistics pooled by meta-analytic methods. Our results did not provide any evidence significant at the 5% level that loci conferring susceptibility to asthma or atopy are present in the 5q31–33 region; however, there was some weak evidence (empirical P = 0.077) of linkage to asthma affection. This study suggests that loci in 5q31–33 have at most a modest effect on susceptibility to asthma or total serum IgE levels, may not be detectable or present in all human populations and are difficult to detect even using combined linkage evidence from 2400–2600 full sibling pairs. [ABSTRACT FROM PUBLISHER]

Published
2001
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49. Two Different Genotypes of Bartonella henselae in Children with Cat-Scratch Disease and their Pet Cats.

Author

Sander, Anna, Ruess, Michael, Deichmann, Klaus, Böhm, Norbert, and Bredt, Wolfgang

Subjects
BARTONELLA infections, CAT-scratch disease, INFECTION in children, CATS, INFECTION
Abstract

Two genotypes (I and II) of Bartonella henselae are involved in cat-scratch disease (CSD). Lymph node biopsies were taken from 3 children suffering from CSD, and blood cultures were obtained from their pet cats. Cat-scratch disease was confirmed serologically, histologically and by detection of B. henselae DNA in all 3 lymph nodes by PCR. Bartonella henselae grew in all cats' blood cultures. The first 2 children were siblings. Both children and their pet cats were infected with B. henselae genotype II, and the third patient and her cat were infected with B. henselae genotype I. In all cases, there were no essential differences in the clinical manifestations of the infection caused by these 2 genotypes of B. henselae. [ABSTRACT FROM AUTHOR]

Published
1998
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