Search for intracranial aneurysm susceptibility gene(s) using Finnish families
<p>Abstract</p> <p>Background</p> <p>Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs clust...
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| Format: | Article |
| Language: | English |
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BMC
2002-08-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/3/7 |
| _version_ | 1818556670116102144 |
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| author | Ryynänen Markku Hernesniemi Juha Ronkainen Antti Kuivaniemi Helena Vongpunsawad Sompong Olson Jane M Kim Lee-Lian Tromp Gerard |
| author_facet | Ryynänen Markku Hernesniemi Juha Ronkainen Antti Kuivaniemi Helena Vongpunsawad Sompong Olson Jane M Kim Lee-Lian Tromp Gerard |
| author_sort | Ryynänen Markku |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster in families, and are therefore probably genetic. Identification of individuals at risk for developing IAs by genetic tests will allow concentration of diagnostic imaging on high-risk individuals. We used model-free linkage analysis based on allele sharing with a two-stage design for a genome-wide scan to identify chromosomal regions that may harbor IA loci.</p> <p>Methods</p> <p>We previously estimated sibling relative risk in the Finnish population at between 9 and 16, and proceeded with a genome-wide scan for loci predisposing to IA. In 85 Finnish families with two or more affected members, 48 affected sibling pairs (ASPs) were available for our genetic study. Power calculations indicated that 48 ASPs were adequate to identify chromosomal regions likely to harbor predisposing genes and that a liberal stage I lod score threshold of 0.8 provided a reasonable balance between detection of false positive regions and failure to detect real loci with moderate effect.</p> <p>Results</p> <p>Seven chromosomal regions exceeded the stage I lod score threshold of 0.8 and five exceeded 1.0. The most significant region, on chromosome 19q, had a maximum multipoint lod score (MLS) of 2.6.</p> <p>Conclusions</p> <p>Our study provides evidence for the locations of genes predisposing to IA. Further studies are necessary to elucidate the genes and their role in the pathophysiology of IA, and to design genetic tests.</p> |
| first_indexed | 2024-12-13T23:50:15Z |
| format | Article |
| id | doaj.art-bb9a98a1fd4a422496702e295b6aaf05 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-13T23:50:15Z |
| publishDate | 2002-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-bb9a98a1fd4a422496702e295b6aaf052022-12-21T23:26:47ZengBMCBMC Medical Genetics1471-23502002-08-0131710.1186/1471-2350-3-7Search for intracranial aneurysm susceptibility gene(s) using Finnish familiesRyynänen MarkkuHernesniemi JuhaRonkainen AnttiKuivaniemi HelenaVongpunsawad SompongOlson Jane MKim Lee-LianTromp Gerard<p>Abstract</p> <p>Background</p> <p>Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster in families, and are therefore probably genetic. Identification of individuals at risk for developing IAs by genetic tests will allow concentration of diagnostic imaging on high-risk individuals. We used model-free linkage analysis based on allele sharing with a two-stage design for a genome-wide scan to identify chromosomal regions that may harbor IA loci.</p> <p>Methods</p> <p>We previously estimated sibling relative risk in the Finnish population at between 9 and 16, and proceeded with a genome-wide scan for loci predisposing to IA. In 85 Finnish families with two or more affected members, 48 affected sibling pairs (ASPs) were available for our genetic study. Power calculations indicated that 48 ASPs were adequate to identify chromosomal regions likely to harbor predisposing genes and that a liberal stage I lod score threshold of 0.8 provided a reasonable balance between detection of false positive regions and failure to detect real loci with moderate effect.</p> <p>Results</p> <p>Seven chromosomal regions exceeded the stage I lod score threshold of 0.8 and five exceeded 1.0. The most significant region, on chromosome 19q, had a maximum multipoint lod score (MLS) of 2.6.</p> <p>Conclusions</p> <p>Our study provides evidence for the locations of genes predisposing to IA. Further studies are necessary to elucidate the genes and their role in the pathophysiology of IA, and to design genetic tests.</p>http://www.biomedcentral.com/1471-2350/3/7 |
| spellingShingle | Ryynänen Markku Hernesniemi Juha Ronkainen Antti Kuivaniemi Helena Vongpunsawad Sompong Olson Jane M Kim Lee-Lian Tromp Gerard Search for intracranial aneurysm susceptibility gene(s) using Finnish families BMC Medical Genetics |
| title | Search for intracranial aneurysm susceptibility gene(s) using Finnish families |
| title_full | Search for intracranial aneurysm susceptibility gene(s) using Finnish families |
| title_fullStr | Search for intracranial aneurysm susceptibility gene(s) using Finnish families |
| title_full_unstemmed | Search for intracranial aneurysm susceptibility gene(s) using Finnish families |
| title_short | Search for intracranial aneurysm susceptibility gene(s) using Finnish families |
| title_sort | search for intracranial aneurysm susceptibility gene s using finnish families |
| url | http://www.biomedcentral.com/1471-2350/3/7 |
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