Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene
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 | 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://hdl.handle.net/2271/609 | en_US |
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.language | en | en_US |
dc.language.iso | en_US | en_US |
dc.publisher | BioMedCentral | en_US |
dc.relation.isversionof | http://www.biomedcentral.com/1471-2156/7/29 | 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.identifier.doi | 10.1186/1471-2156-7-29 | en_US |
dc.identifier.pmid | PMC15921521 | en_US |
dc.rights.accessrights | openAccess | en_US |
dc.date.captured | 2009-04-27 | en_US |
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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.