Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene.
Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene.
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人CYP7A1基因的连锁不平衡块，单倍型结构和HTSNP。
DOI：
10.1186/1471-2156-7-29
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发表时间：
2006-05-18
期刊：
影响因子：
2.9
通讯作者：
Zhong, Xiao-bo
中科院分区：
文献类型：
--
作者：
Nakamoto, Kaori;Wang, Shuang;Jenison, Robert D.;Guo, Grace L.;Klaassen, Curtis D.;Wan, Yu-Jui Yvonne;Zhong, Xiao-bo
胆固醇 7-α-羟化酶 (CYP7A1) 是将胆固醇转化为胆汁酸的限速酶。 CYP7A1 基因的遗传变异与胆固醇和胆汁酸的代谢紊乱有关，包括高胆固醇血症、高甘油三酯血症、动脉硬化和胆结石疾病。目前的遗传学研究主要集中于CYP7A1基因启动子区A-278C处的单核苷酸多态性（SNP）分析。在这里，我们报告了一种遗传方法，用于对非洲人、白种人、亚洲人、墨西哥裔美国人和非裔美国人的整个 CYP7A1 基因及其周围序列的连锁不平衡 (LD) 块和单倍型结构进行广泛分析。使用从 HapMap 数据库下载的基因分型数据来选择一组单倍型标记 SNP (htSNP)，在非洲人、白种人和亚洲人中定义了 CYP7A1 基因的 LD 模式和单倍型块。随后开发了一种低成本、基于微阵列的薄膜生物传感器芯片平台，用于高通量基因分型，以研究 HapMap htSNP 向墨西哥裔美国人和非裔美国人群体的可转移性。在所有测试群体中定义了比较 LD 模式和单倍型块结构。发现CYP7A1基因及其周围序列的恒定遗传结构可能为CYP7A1基因遗传变异与胆固醇和胆汁酸代谢的关联研究带来更好的设计。
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. 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. 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.
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影响因子：
4.8
作者：
Guo, GL;Lambert, G;Sinal, CJ
通讯作者：
Sinal, CJ
影响因子：
5.3
作者：
Kajinami, K;Brousseau, ME;Schaefer, EJ
通讯作者：
Schaefer, EJ
影响因子：
15.9
作者：
Wang, JP;Freeman, DJ;Cohen, JC
通讯作者：
Cohen, JC
影响因子：
2.8
作者：
Hubacek, JA;Pitha, J;Talmud, PJ
通讯作者：
Talmud, PJ
影响因子：
5.3
作者：
Abrahamsson, A;Krapivner, S;van't Hooft, FM
通讯作者：
van't Hooft, FM