Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11
Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%–6%. Although IA has a substantial genetic component, little attention has bee...
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| Veröffentlicht in: | American journal of human genetics 2001-10, Vol.69 (4), p.804-819 |
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| creator | Onda, Hideaki Kasuya, Hidetoshi Yoneyama, Taku Takakura, Kintomo Hori, Tomokatsu Takeda, Jun Nakajima, Toshiaki Inoue, Ituro |
| description | Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%–6%. Although IA has a substantial genetic component, little attention has been given to the genetic determinants. We report here a genomewide linkage study of IA in 104 Japanese affected sib pairs in which positive evidence of linkage on chromosomes 5q22-31 (maximum LOD score [MLS] 2.24), 7q11 (MLS 3.22), and 14q22 (MLS 2.31) were found. The best evidence of linkage is detected at
D7S2472, in the vicinity of the elastin gene (
ELN), a candidate gene for IA. Fourteen distinct single-nucleotide polymorphisms (SNPs) were identified in
ELN, and no obvious allelic association between IA and each SNP was observed. The haplotype between the intron-20/intron-23 polymorphism of
ELN is strongly associated with IA (
P=3.81×10
−6), and homozygous patients are at high risk (
P=.002), with an odds ratio of 4.39. These findings suggest that a genetic locus for IA lies within or close to the
ELN locus on chromosome 7. |
| doi_str_mv | 10.1086/323614 |
| format | Article |
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D7S2472, in the vicinity of the elastin gene (
ELN), a candidate gene for IA. Fourteen distinct single-nucleotide polymorphisms (SNPs) were identified in
ELN, and no obvious allelic association between IA and each SNP was observed. The haplotype between the intron-20/intron-23 polymorphism of
ELN is strongly associated with IA (
P=3.81×10
−6), and homozygous patients are at high risk (
P=.002), with an odds ratio of 4.39. These findings suggest that a genetic locus for IA lies within or close to the
ELN locus on chromosome 7.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/323614</identifier><identifier>PMID: 11536080</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>3' Untranslated Regions - genetics ; Alleles ; Biological and medical sciences ; Chromosome Mapping ; Chromosomes, Human, Pair 7 - genetics ; Exons - genetics ; Female ; Gene Frequency - genetics ; Genetic Linkage - genetics ; Genome, Human ; Haplotypes - genetics ; Heterozygote ; Humans ; Intracranial Aneurysm - diagnostic imaging ; Intracranial Aneurysm - genetics ; Intracranial Aneurysm - pathology ; Introns - genetics ; Linkage Disequilibrium - genetics ; Male ; Matched-Pair Analysis ; Medical sciences ; Microsatellite Repeats - genetics ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense - genetics ; Neurology ; Nuclear Family ; Physical Chromosome Mapping ; Polymorphism, Single Nucleotide - genetics ; Promoter Regions, Genetic - genetics ; Radiography ; Vascular diseases and vascular malformations of the nervous system</subject><ispartof>American journal of human genetics, 2001-10, Vol.69 (4), p.804-819</ispartof><rights>2001 The American Society of Human Genetics</rights><rights>2002 INIST-CNRS</rights><rights>2001 by The American Society of Human Genetics. All rights reserved. 2001</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c499t-1fd9a7ec69c2c7b8e6b7d576bf0451a794cc2053f4bdf63a121017e461163b6d3</citedby><cites>FETCH-LOGICAL-c499t-1fd9a7ec69c2c7b8e6b7d576bf0451a794cc2053f4bdf63a121017e461163b6d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226066/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/323614$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3550,27924,27925,45995,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14147762$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11536080$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Onda, Hideaki</creatorcontrib><creatorcontrib>Kasuya, Hidetoshi</creatorcontrib><creatorcontrib>Yoneyama, Taku</creatorcontrib><creatorcontrib>Takakura, Kintomo</creatorcontrib><creatorcontrib>Hori, Tomokatsu</creatorcontrib><creatorcontrib>Takeda, Jun</creatorcontrib><creatorcontrib>Nakajima, Toshiaki</creatorcontrib><creatorcontrib>Inoue, Ituro</creatorcontrib><title>Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%–6%. Although IA has a substantial genetic component, little attention has been given to the genetic determinants. We report here a genomewide linkage study of IA in 104 Japanese affected sib pairs in which positive evidence of linkage on chromosomes 5q22-31 (maximum LOD score [MLS] 2.24), 7q11 (MLS 3.22), and 14q22 (MLS 2.31) were found. The best evidence of linkage is detected at
D7S2472, in the vicinity of the elastin gene (
ELN), a candidate gene for IA. Fourteen distinct single-nucleotide polymorphisms (SNPs) were identified in
ELN, and no obvious allelic association between IA and each SNP was observed. The haplotype between the intron-20/intron-23 polymorphism of
ELN is strongly associated with IA (
P=3.81×10
−6), and homozygous patients are at high risk (
P=.002), with an odds ratio of 4.39. These findings suggest that a genetic locus for IA lies within or close to the
ELN locus on chromosome 7.</description><subject>3' Untranslated Regions - genetics</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 7 - genetics</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Gene Frequency - genetics</subject><subject>Genetic Linkage - genetics</subject><subject>Genome, Human</subject><subject>Haplotypes - genetics</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Intracranial Aneurysm - diagnostic imaging</subject><subject>Intracranial Aneurysm - genetics</subject><subject>Intracranial Aneurysm - pathology</subject><subject>Introns - genetics</subject><subject>Linkage Disequilibrium - genetics</subject><subject>Male</subject><subject>Matched-Pair Analysis</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats - genetics</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Mutation, Missense - genetics</subject><subject>Neurology</subject><subject>Nuclear Family</subject><subject>Physical Chromosome Mapping</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Promoter Regions, Genetic - genetics</subject><subject>Radiography</subject><subject>Vascular diseases and vascular malformations of the nervous system</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpd0cFu1DAQBmALgehS4BFQLnALeJzE3lyQVqvSVlrEAThbE3vSGhI7tZNW-_a42lUXOPngT_-M_mHsLfCPwNfyUyUqCfUztoKmUqWUvHnOVpxzUbaiVWfsVUq_OAdY8-olO4OsJF_zFcNL8mGkB2ep3Dn_G2-oQG-LK5yGMO8nKjcpBeNwdsEX3-fFOkrFV5yKaz9HNBG9w6HYeFriPo3FHIrtbQxjSDm1UHcAr9mLHodEb47vOfv55eLH9qrcfbu83m52panbdi6hty0qMrI1wqhuTbJTtlGy63ndAKq2NkbwpurrzvayQhDAQVEtAWTVSVuds8-H3GnpRrKGHvcb9BTdiHGvAzr97493t_om3GsQQnIpc8CHY0AMdwulWY8uGRoG9BSWpFVuDRoBJ2hiSClS_zQEuH68hj5cI8N3f690Ysf6M3h_BJgMDn1u07h0cjXUSkmRHT84ygXeO4o6GUfekHWRzKxtcP_P_gN2gaJd</recordid><startdate>20011001</startdate><enddate>20011001</enddate><creator>Onda, Hideaki</creator><creator>Kasuya, Hidetoshi</creator><creator>Yoneyama, Taku</creator><creator>Takakura, Kintomo</creator><creator>Hori, Tomokatsu</creator><creator>Takeda, Jun</creator><creator>Nakajima, Toshiaki</creator><creator>Inoue, Ituro</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><general>The American Society of Human Genetics</general><scope>6I.</scope><scope>AAFTH</scope><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>7X8</scope><scope>5PM</scope></search><sort><creationdate>20011001</creationdate><title>Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11</title><author>Onda, Hideaki ; Kasuya, Hidetoshi ; Yoneyama, Taku ; Takakura, Kintomo ; Hori, Tomokatsu ; Takeda, Jun ; Nakajima, Toshiaki ; Inoue, Ituro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c499t-1fd9a7ec69c2c7b8e6b7d576bf0451a794cc2053f4bdf63a121017e461163b6d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>3' Untranslated Regions - genetics</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 7 - genetics</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Gene Frequency - genetics</topic><topic>Genetic Linkage - genetics</topic><topic>Genome, Human</topic><topic>Haplotypes - genetics</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Intracranial Aneurysm - diagnostic imaging</topic><topic>Intracranial Aneurysm - genetics</topic><topic>Intracranial Aneurysm - pathology</topic><topic>Introns - genetics</topic><topic>Linkage Disequilibrium - genetics</topic><topic>Male</topic><topic>Matched-Pair Analysis</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats - genetics</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Mutation, Missense - genetics</topic><topic>Neurology</topic><topic>Nuclear Family</topic><topic>Physical Chromosome Mapping</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Promoter Regions, Genetic - genetics</topic><topic>Radiography</topic><topic>Vascular diseases and vascular malformations of the nervous system</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Onda, Hideaki</creatorcontrib><creatorcontrib>Kasuya, Hidetoshi</creatorcontrib><creatorcontrib>Yoneyama, Taku</creatorcontrib><creatorcontrib>Takakura, Kintomo</creatorcontrib><creatorcontrib>Hori, Tomokatsu</creatorcontrib><creatorcontrib>Takeda, Jun</creatorcontrib><creatorcontrib>Nakajima, Toshiaki</creatorcontrib><creatorcontrib>Inoue, Ituro</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><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>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Onda, Hideaki</au><au>Kasuya, Hidetoshi</au><au>Yoneyama, Taku</au><au>Takakura, Kintomo</au><au>Hori, Tomokatsu</au><au>Takeda, Jun</au><au>Nakajima, Toshiaki</au><au>Inoue, Ituro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2001-10-01</date><risdate>2001</risdate><volume>69</volume><issue>4</issue><spage>804</spage><epage>819</epage><pages>804-819</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%–6%. Although IA has a substantial genetic component, little attention has been given to the genetic determinants. We report here a genomewide linkage study of IA in 104 Japanese affected sib pairs in which positive evidence of linkage on chromosomes 5q22-31 (maximum LOD score [MLS] 2.24), 7q11 (MLS 3.22), and 14q22 (MLS 2.31) were found. The best evidence of linkage is detected at
D7S2472, in the vicinity of the elastin gene (
ELN), a candidate gene for IA. Fourteen distinct single-nucleotide polymorphisms (SNPs) were identified in
ELN, and no obvious allelic association between IA and each SNP was observed. The haplotype between the intron-20/intron-23 polymorphism of
ELN is strongly associated with IA (
P=3.81×10
−6), and homozygous patients are at high risk (
P=.002), with an odds ratio of 4.39. These findings suggest that a genetic locus for IA lies within or close to the
ELN locus on chromosome 7.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>11536080</pmid><doi>10.1086/323614</doi><tpages>16</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Cell Press Free Archives; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | 3' Untranslated Regions - genetics Alleles Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 7 - genetics Exons - genetics Female Gene Frequency - genetics Genetic Linkage - genetics Genome, Human Haplotypes - genetics Heterozygote Humans Intracranial Aneurysm - diagnostic imaging Intracranial Aneurysm - genetics Intracranial Aneurysm - pathology Introns - genetics Linkage Disequilibrium - genetics Male Matched-Pair Analysis Medical sciences Microsatellite Repeats - genetics Middle Aged Molecular Sequence Data Mutation, Missense - genetics Neurology Nuclear Family Physical Chromosome Mapping Polymorphism, Single Nucleotide - genetics Promoter Regions, Genetic - genetics Radiography Vascular diseases and vascular malformations of the nervous system |
| title | Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11 |
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