Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease
Olavesen, M. ; Hampe, J. ; Mirza, M. M. ; Saiz, R. ; Lewis, C. M. ; Bridger, S. ; Teare, D. ; Easton, D. F. ; Herrmann, T. ; Scott, G. ; Hirst, J. ; Sanderson, J. ; Hodgson, S. V. ; Lee, J. ; MacPherson, A. ; Schreiber, S. ; Lennard-Jones, J. E. ; Curran, M. E. ; Mathew, C. G.
Springer
Published 2000
Springer
Published 2000
| ISSN: |
1432-1211
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|---|---|
| Keywords: |
Key words Inflammatory bowel ; Crohn's ; Ulcerative colitis ; Interleukin-4 receptor ; Association
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| Source: |
Springer Online Journal Archives 1860-2000
|
| Topics: |
Biology
Medicine
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| Notes: |
Abstract Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295630486962176 |
|---|---|
| autor | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. |
| autorsonst | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. |
| book_url | http://dx.doi.org/10.1007/s002510050001 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM202702200 |
| iqvoc_descriptor_title | iqvoc_00000708:Analysis |
| issn | 1432-1211 |
| journal_name | Immunogenetics |
| materialart | 1 |
| notes | Abstract Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes. |
| package_name | Springer |
| publikationsjahr_anzeige | 2000 |
| publikationsjahr_facette | 2000 |
| publikationsjahr_intervall | 7999:2000-2004 |
| publikationsjahr_sort | 2000 |
| publisher | Springer |
| reference | 51 (2000), S. 1-7 |
| schlagwort | Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association |
| search_space | articles |
| shingle_author_1 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. |
| shingle_author_2 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. |
| shingle_author_3 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. |
| shingle_author_4 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. |
| shingle_catch_all_1 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Abstract Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes. 1432-1211 14321211 Springer |
| shingle_catch_all_2 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Abstract Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes. 1432-1211 14321211 Springer |
| shingle_catch_all_3 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Abstract Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes. 1432-1211 14321211 Springer |
| shingle_catch_all_4 | Olavesen, M. Hampe, J. Mirza, M. M. Saiz, R. Lewis, C. M. Bridger, S. Teare, D. Easton, D. F. Herrmann, T. Scott, G. Hirst, J. Sanderson, J. Hodgson, S. V. Lee, J. MacPherson, A. Schreiber, S. Lennard-Jones, J. E. Curran, M. E. Mathew, C. G. Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Key words Inflammatory bowel Crohn's Ulcerative colitis Interleukin-4 receptor Association Abstract Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes. 1432-1211 14321211 Springer |
| shingle_title_1 | Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease |
| shingle_title_2 | Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease |
| shingle_title_3 | Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease |
| shingle_title_4 | Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:15.713Z |
| titel | Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease |
| titel_suche | Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM202702200 |