Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene

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dc.contributor.author Kaori Nakamoto en_US
dc.contributor.author Shuang Wang en_US
dc.contributor.author Robert Jenison en_US
dc.contributor.author Grace Guo en_US
dc.contributor.author Curtis Klaassen en_US
dc.contributor.author Yu-Jui Wan en_US
dc.contributor.author Xiao-bo Zhong en_US
dc.date.accessioned 2009-05-05T16:15:33Z
dc.date.available 2006 - en_US
dc.date.available 2009-05-05T16:15:33Z
dc.date.issued 2005-05-27 en_US
dc.identifier.citation Kaori Nakamoto;Shuang Wang;Robert Jenison;Grace Guo;Curtis Klaassen;Yu-Jui Wan;Xiao-bo Zhong: Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene. BMC Genet 2006, 7(1):29. en_US
dc.identifier.uri http://www.biomedcentral.com/1471-2156/7/29 en_US
dc.identifier.uri http://hdl.handle.net/2271/609
dc.description.abstract BACKGROUND:Cholesterol 7-alpha-hydroxylase (CYP7A1) is the rate limiting enzyme for converting cholesterol into bile acids. Genetic variations in the CYP7A1 gene have been associated with metabolic disorders of cholesterol and bile acids, including hypercholesterolemia, hypertriglyceridemia, arteriosclerosis, and gallstone disease. Current genetic studies are focused mainly on analysis of a single nucleotide polymorphism (SNP) at A-278C in the promoter region of the CYP7A1 gene. Here we report a genetic approach for an extensive analysis on linkage disequilibrium (LD) blocks and haplotype structures of the entire CYP7A1 gene and its surrounding sequences in Africans, Caucasians, Asians, Mexican-Americans, and African-Americans.RESULT:The LD patterns and haplotype blocks of CYP7A1 gene were defined in Africans, Caucasians, and Asians using genotyping data downloaded from the HapMap database to select a set of haplotype-tagging SNPs (htSNP). A low cost, microarray-based platform on thin-film biosensor chips was then developed for high-throughput genotyping to study transferability of the HapMap htSNPs to Mexican-American and African-American populations. Comparative LD patterns and haplotype block structure was defined across all test populations.CONCLUSION:A constant genetic structure in CYP7A1 gene and its surrounding sequences was found that may lead to a better design for association studies of genetic variations in CYP7A1 gene with cholesterol and bile acid metabolism. en_US
dc.format.extent 648400 bytes
dc.format.extent 2910 bytes
dc.format.extent 12055 bytes
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dc.format.extent 43 bytes
dc.format.mimetype application/pdf
dc.format.mimetype text/plain
dc.format.mimetype application/octet-stream
dc.format.mimetype application/octet-stream
dc.format.mimetype application/octet-stream
dc.language en en_US
dc.language.iso en_US
dc.publisher BioMedCentral en_US
dc.relation.ispartof 1471-2156 en_US
dc.relation.hasversion http://www.biomedcentral.com/content/pdf/1471-2156-7-29.pdf en_US
dc.rights This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. en_US
dc.rights.uri http://creativecommons.org/licenses/by/2.0 en_US
dc.subject.mesh Animals en_US
dc.subject.mesh Body Weight en_US
dc.subject.mesh Chromosomes, Mammalian en_US
dc.subject.mesh Cystic Fibrosis/ genetics/pathology en_US
dc.subject.mesh Female en_US
dc.subject.mesh Genetic Markers en_US
dc.subject.mesh Inflammation/genetics en_US
dc.subject.mesh Intestinal Diseases/ genetics/pathology en_US
dc.subject.mesh Male en_US
dc.subject.mesh Mice en_US
dc.subject.mesh Mice, Inbred C57BL en_US
dc.subject.mesh Mucus/metabolism en_US
dc.subject.mesh Phenotype en_US
dc.subject.mesh Sex Factors en_US
dc.title Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene en_US
dc.type article en_US
dc.date.captured 2009-04-27 en_US
dc.identifier.doi doi:10.1186/1471-2156-7-29 en_US
dc.identifier.pmid 15921521 en_US

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This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Except where otherwise noted, this item's license is described as This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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