Association of NOD2 with Crohn's Disease in a homogenous Irish population
Linkage of IBD to the pericentromeric region of chromosome 16 has been widely confirmed by analyses of multiple populations. The NOD2 gene is located in the peak region of linkage on chromosome 16 and thought to be involved in the activation of nuclear factor (NF) κ B in response to bacterial compon...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2003-03, Vol.11 (3), p.237-244 |
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| creator | Bairead, Emer Harmon, Dawn L Curtis, Anne M Kelly, Yvette O'Leary, Clare Gardner, Michelle Leahy, Dermot T Vaughan, Pat Keegan, Denise O'Morain, Colm O'Donoghue, Diarmuid Shanahan, Fergus Parfrey, Nollaig A Quane, Kathleen A |
| description | Linkage of IBD to the pericentromeric region of chromosome 16 has been widely confirmed by analyses of multiple populations. The NOD2 gene is located in the peak region of linkage on chromosome 16 and thought to be involved in the activation of nuclear factor (NF)
κ
B in response to bacterial components. Mutations in the NOD2 gene are found to be strongly associated with susceptibility to Crohn's disease (CD). A total of 65 Irish CD families were genotyped to determine if NOD2 mutations conferred susceptibility to CD and the prevalence of these mutations in sporadic and familial forms of the disease. The Irish population is relatively homogenous and thus may provide advantages in genetic studies of complex diseases. We confirmed the IBD1 locus as a susceptibility locus for IBD within the Irish population by linkage analysis followed by linkage disequilibrium studies. No significant evidence of linkage was observed to the previously identified regions on chromosomes 1, 12 and 14. In all, 131 CD affected families were then genotyped for seven of the previously published NOD2 single-nucleotide polymorphisms (SNPs). Allelic transmission distortion was investigated using the pedigree disequilibrium test (PDT). SNP13 (3020insC) was found to be associated with CD (
P
=0.0186). Patients who possessed a rare allele of SNP8, 12 or 13 presented earlier when compared to patients without rare variants (mean age, 20.1
vs
24 years,
P
=0.011) and the rare allele of SNP13 was observed to be predominantly linked to ileal disease (
P
=0.02). This report confirms the importance of NOD2 as a susceptibility gene for CD within the Irish population. |
| doi_str_mv | 10.1038/sj.ejhg.5200954 |
| format | Article |
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κ
B in response to bacterial components. Mutations in the NOD2 gene are found to be strongly associated with susceptibility to Crohn's disease (CD). A total of 65 Irish CD families were genotyped to determine if NOD2 mutations conferred susceptibility to CD and the prevalence of these mutations in sporadic and familial forms of the disease. The Irish population is relatively homogenous and thus may provide advantages in genetic studies of complex diseases. We confirmed the IBD1 locus as a susceptibility locus for IBD within the Irish population by linkage analysis followed by linkage disequilibrium studies. No significant evidence of linkage was observed to the previously identified regions on chromosomes 1, 12 and 14. In all, 131 CD affected families were then genotyped for seven of the previously published NOD2 single-nucleotide polymorphisms (SNPs). Allelic transmission distortion was investigated using the pedigree disequilibrium test (PDT). SNP13 (3020insC) was found to be associated with CD (
P
=0.0186). Patients who possessed a rare allele of SNP8, 12 or 13 presented earlier when compared to patients without rare variants (mean age, 20.1
vs
24 years,
P
=0.011) and the rare allele of SNP13 was observed to be predominantly linked to ileal disease (
P
=0.02). This report confirms the importance of NOD2 as a susceptibility gene for CD within the Irish population.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/sj.ejhg.5200954</identifier><identifier>PMID: 12673278</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Adult ; Alleles ; Bioinformatics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Carrier Proteins - genetics ; Chromosome 16 ; Chromosomes ; Chromosomes, Human, Pair 16 - genetics ; Crohn Disease - genetics ; Crohn's disease ; Cytogenetics ; DNA Mutational Analysis ; DNA Primers ; Families & family life ; Gastroenterology ; Gastroenterology. Liver. Pancreas. Abdomen ; Gene Expression ; Genetic Testing ; Genetics ; Human Genetics ; Humans ; Inflammatory bowel disease ; Intracellular Signaling Peptides and Proteins ; Ireland ; Linkage analysis ; Linkage Disequilibrium ; Medical sciences ; Microsatellite Repeats ; Mutation ; Mutation - genetics ; NOD2 protein ; Nod2 Signaling Adaptor Protein ; Other diseases. Semiology ; Pedigree ; Population ; Single-nucleotide polymorphism ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Susceptibility ; University colleges</subject><ispartof>European journal of human genetics : EJHG, 2003-03, Vol.11 (3), p.237-244</ispartof><rights>Springer Nature Switzerland AG 2003</rights><rights>2003 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Mar 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c395t-2c31239869937eed6a4a9fd7e436675b57a778e646e0efd5d7386385447a647e3</citedby><cites>FETCH-LOGICAL-c395t-2c31239869937eed6a4a9fd7e436675b57a778e646e0efd5d7386385447a647e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.ejhg.5200954$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.ejhg.5200954$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14669311$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12673278$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bairead, Emer</creatorcontrib><creatorcontrib>Harmon, Dawn L</creatorcontrib><creatorcontrib>Curtis, Anne M</creatorcontrib><creatorcontrib>Kelly, Yvette</creatorcontrib><creatorcontrib>O'Leary, Clare</creatorcontrib><creatorcontrib>Gardner, Michelle</creatorcontrib><creatorcontrib>Leahy, Dermot T</creatorcontrib><creatorcontrib>Vaughan, Pat</creatorcontrib><creatorcontrib>Keegan, Denise</creatorcontrib><creatorcontrib>O'Morain, Colm</creatorcontrib><creatorcontrib>O'Donoghue, Diarmuid</creatorcontrib><creatorcontrib>Shanahan, Fergus</creatorcontrib><creatorcontrib>Parfrey, Nollaig A</creatorcontrib><creatorcontrib>Quane, Kathleen A</creatorcontrib><title>Association of NOD2 with Crohn's Disease in a homogenous Irish population</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>Linkage of IBD to the pericentromeric region of chromosome 16 has been widely confirmed by analyses of multiple populations. The NOD2 gene is located in the peak region of linkage on chromosome 16 and thought to be involved in the activation of nuclear factor (NF)
κ
B in response to bacterial components. Mutations in the NOD2 gene are found to be strongly associated with susceptibility to Crohn's disease (CD). A total of 65 Irish CD families were genotyped to determine if NOD2 mutations conferred susceptibility to CD and the prevalence of these mutations in sporadic and familial forms of the disease. The Irish population is relatively homogenous and thus may provide advantages in genetic studies of complex diseases. We confirmed the IBD1 locus as a susceptibility locus for IBD within the Irish population by linkage analysis followed by linkage disequilibrium studies. No significant evidence of linkage was observed to the previously identified regions on chromosomes 1, 12 and 14. In all, 131 CD affected families were then genotyped for seven of the previously published NOD2 single-nucleotide polymorphisms (SNPs). Allelic transmission distortion was investigated using the pedigree disequilibrium test (PDT). SNP13 (3020insC) was found to be associated with CD (
P
=0.0186). Patients who possessed a rare allele of SNP8, 12 or 13 presented earlier when compared to patients without rare variants (mean age, 20.1
vs
24 years,
P
=0.011) and the rare allele of SNP13 was observed to be predominantly linked to ileal disease (
P
=0.02). This report confirms the importance of NOD2 as a susceptibility gene for CD within the Irish population.</description><subject>Adult</subject><subject>Alleles</subject><subject>Bioinformatics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Carrier Proteins - genetics</subject><subject>Chromosome 16</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 16 - genetics</subject><subject>Crohn Disease - genetics</subject><subject>Crohn's disease</subject><subject>Cytogenetics</subject><subject>DNA Mutational Analysis</subject><subject>DNA Primers</subject><subject>Families & family life</subject><subject>Gastroenterology</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Gene Expression</subject><subject>Genetic Testing</subject><subject>Genetics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Inflammatory bowel disease</subject><subject>Intracellular Signaling Peptides and Proteins</subject><subject>Ireland</subject><subject>Linkage analysis</subject><subject>Linkage Disequilibrium</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>NOD2 protein</subject><subject>Nod2 Signaling Adaptor Protein</subject><subject>Other diseases. Semiology</subject><subject>Pedigree</subject><subject>Population</subject><subject>Single-nucleotide polymorphism</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><subject>Susceptibility</subject><subject>University colleges</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqF0Utr3DAQAGBRWpo06bm3IgptT97o_TiGTR8LobmkZ6HY47WN19pq1pT--ypdw0Ih5CTBfDOa0RDyjrMVZ9Jd4bCCoduutGDMa_WCnHNlTaWVdC_LnXFXKcflGXmDODBWgpa_JmdcGCuFdedkc42Y6j4e-jTR1NIfdzeC_u4PHV3n1E2fkd70CBGB9hONtEu7tIUpzUg3uceO7tN-Hv9lX5JXbRwR3i7nBfn59cv9-nt1e_dts76-rWrp9aESteRCeme8lxagMVFF3zYWlDTG6gdto7UOjDLAoG10Y6Uz0mmlbDTKgrwgn4519zn9mgEPYddjDeMYJyh9BSvLlF6IZyF3zmtvdYEf_oNDmvNUhgiCW6eY8ragqyOqc0LM0IZ97ncx_wmchcddBBzC4y7CsouS8X4pOz_soDn55fML-LiAiHUc2xynuseTU8Z4yXlx7OiwhKYt5FN_T739F2WPoHo</recordid><startdate>20030301</startdate><enddate>20030301</enddate><creator>Bairead, Emer</creator><creator>Harmon, Dawn L</creator><creator>Curtis, Anne M</creator><creator>Kelly, Yvette</creator><creator>O'Leary, Clare</creator><creator>Gardner, Michelle</creator><creator>Leahy, Dermot T</creator><creator>Vaughan, Pat</creator><creator>Keegan, Denise</creator><creator>O'Morain, Colm</creator><creator>O'Donoghue, Diarmuid</creator><creator>Shanahan, Fergus</creator><creator>Parfrey, Nollaig A</creator><creator>Quane, Kathleen A</creator><general>Springer International Publishing</general><general>Nature Publishing</general><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20030301</creationdate><title>Association of NOD2 with Crohn's Disease in a homogenous Irish population</title><author>Bairead, Emer ; Harmon, Dawn L ; Curtis, Anne M ; Kelly, Yvette ; O'Leary, Clare ; Gardner, Michelle ; Leahy, Dermot T ; Vaughan, Pat ; Keegan, Denise ; O'Morain, Colm ; O'Donoghue, Diarmuid ; Shanahan, Fergus ; Parfrey, Nollaig A ; Quane, Kathleen A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c395t-2c31239869937eed6a4a9fd7e436675b57a778e646e0efd5d7386385447a647e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Bioinformatics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Carrier Proteins - genetics</topic><topic>Chromosome 16</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 16 - genetics</topic><topic>Crohn Disease - genetics</topic><topic>Crohn's disease</topic><topic>Cytogenetics</topic><topic>DNA Mutational Analysis</topic><topic>DNA Primers</topic><topic>Families & family life</topic><topic>Gastroenterology</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Gene Expression</topic><topic>Genetic Testing</topic><topic>Genetics</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Inflammatory bowel disease</topic><topic>Intracellular Signaling Peptides and Proteins</topic><topic>Ireland</topic><topic>Linkage analysis</topic><topic>Linkage Disequilibrium</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>NOD2 protein</topic><topic>Nod2 Signaling Adaptor Protein</topic><topic>Other diseases. Semiology</topic><topic>Pedigree</topic><topic>Population</topic><topic>Single-nucleotide polymorphism</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</topic><topic>Susceptibility</topic><topic>University colleges</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bairead, Emer</creatorcontrib><creatorcontrib>Harmon, Dawn L</creatorcontrib><creatorcontrib>Curtis, Anne M</creatorcontrib><creatorcontrib>Kelly, Yvette</creatorcontrib><creatorcontrib>O'Leary, Clare</creatorcontrib><creatorcontrib>Gardner, Michelle</creatorcontrib><creatorcontrib>Leahy, Dermot T</creatorcontrib><creatorcontrib>Vaughan, Pat</creatorcontrib><creatorcontrib>Keegan, Denise</creatorcontrib><creatorcontrib>O'Morain, Colm</creatorcontrib><creatorcontrib>O'Donoghue, Diarmuid</creatorcontrib><creatorcontrib>Shanahan, Fergus</creatorcontrib><creatorcontrib>Parfrey, Nollaig A</creatorcontrib><creatorcontrib>Quane, Kathleen A</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bairead, Emer</au><au>Harmon, Dawn L</au><au>Curtis, Anne M</au><au>Kelly, Yvette</au><au>O'Leary, Clare</au><au>Gardner, Michelle</au><au>Leahy, Dermot T</au><au>Vaughan, Pat</au><au>Keegan, Denise</au><au>O'Morain, Colm</au><au>O'Donoghue, Diarmuid</au><au>Shanahan, Fergus</au><au>Parfrey, Nollaig A</au><au>Quane, Kathleen A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of NOD2 with Crohn's Disease in a homogenous Irish population</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>Eur J Hum Genet</stitle><addtitle>Eur J Hum Genet</addtitle><date>2003-03-01</date><risdate>2003</risdate><volume>11</volume><issue>3</issue><spage>237</spage><epage>244</epage><pages>237-244</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>Linkage of IBD to the pericentromeric region of chromosome 16 has been widely confirmed by analyses of multiple populations. The NOD2 gene is located in the peak region of linkage on chromosome 16 and thought to be involved in the activation of nuclear factor (NF)
κ
B in response to bacterial components. Mutations in the NOD2 gene are found to be strongly associated with susceptibility to Crohn's disease (CD). A total of 65 Irish CD families were genotyped to determine if NOD2 mutations conferred susceptibility to CD and the prevalence of these mutations in sporadic and familial forms of the disease. The Irish population is relatively homogenous and thus may provide advantages in genetic studies of complex diseases. We confirmed the IBD1 locus as a susceptibility locus for IBD within the Irish population by linkage analysis followed by linkage disequilibrium studies. No significant evidence of linkage was observed to the previously identified regions on chromosomes 1, 12 and 14. In all, 131 CD affected families were then genotyped for seven of the previously published NOD2 single-nucleotide polymorphisms (SNPs). Allelic transmission distortion was investigated using the pedigree disequilibrium test (PDT). SNP13 (3020insC) was found to be associated with CD (
P
=0.0186). Patients who possessed a rare allele of SNP8, 12 or 13 presented earlier when compared to patients without rare variants (mean age, 20.1
vs
24 years,
P
=0.011) and the rare allele of SNP13 was observed to be predominantly linked to ileal disease (
P
=0.02). This report confirms the importance of NOD2 as a susceptibility gene for CD within the Irish population.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>12673278</pmid><doi>10.1038/sj.ejhg.5200954</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1018-4813 |
| ispartof | European journal of human genetics : EJHG, 2003-03, Vol.11 (3), p.237-244 |
| issn | 1018-4813 1476-5438 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Adult Alleles Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Carrier Proteins - genetics Chromosome 16 Chromosomes Chromosomes, Human, Pair 16 - genetics Crohn Disease - genetics Crohn's disease Cytogenetics DNA Mutational Analysis DNA Primers Families & family life Gastroenterology Gastroenterology. Liver. Pancreas. Abdomen Gene Expression Genetic Testing Genetics Human Genetics Humans Inflammatory bowel disease Intracellular Signaling Peptides and Proteins Ireland Linkage analysis Linkage Disequilibrium Medical sciences Microsatellite Repeats Mutation Mutation - genetics NOD2 protein Nod2 Signaling Adaptor Protein Other diseases. Semiology Pedigree Population Single-nucleotide polymorphism Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Susceptibility University colleges |
| title | Association of NOD2 with Crohn's Disease in a homogenous Irish population |
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