Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4
Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4
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DOI：
10.1016/j.ygeno.2007.08.007
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发表时间：
2008-01-01
期刊：
影响因子：
4.4
通讯作者：
Gelernter, Joel
中科院分区：
文献类型：
--
作者：
Ittiwut, Chupong;Listman, Jennifer;Gelernter, Joel
GABRA2 和 GABRG1 分别编码 GABA(A) 受体的 alpha-2 和 gamma-1 亚基，位于染色体 4p 上的簇中。多项研究发现 GABRA2 基因座与酒精依赖相关，但尚未发现可以解释这种关联的功能变异。为了了解所报告的关联，我们试图了解这些基因的连锁不平衡（LD）模式和单倍型结构。由于基因间距离很近，类似于 90 kb，预计一些标记可能会显示基因间 LD。在五个不同人群中观察到 13-SNP 单倍型块结构的变异：欧洲裔美国人、非洲裔美国人、中国人（汉族和泰国人）、泰国人和苗族。在苗族中，一个 280 kb 的 LD 相当高的区域跨越基因间区域，而在其他人群中，有两个或多个 LD 块跨越该区域。这些发现可能有助于了解该位点与几个人群中酒精依赖的遗传关联。 (C) 2007 Elsevier Inc. 保留所有权利。
GABRA2 and GABRG1, which encode the alpha-2 and gamma-1 subunits, respectively, of the GABA(A) receptor, are located in a cluster on chromosome 4p. The GABRA2 locus has been found to be associated with alcohol dependence in several studies, but no functional variant that can account for this association has been identified. To understand the reported associations, we sought to understand the linkage disequilibrium (LD) patterns and haplotype structures of these genes. With close intergenic distance, similar to 90 kb, it was anticipated that some markers might show intergenic LD. Variation in 13-SNP haplotype block structure was observed in five different populations: European American, African American, Chinese (Han and Thai), Thai, and Hmong. In the Hmong, a 280-kb region of considerably higher LD spans the intergenic region, whereas in other populations, there were two or more LD blocks that cross this region. These findings may aid in understanding the genetic association of this locus with alcohol dependence in several populations. (C) 2007 Elsevier Inc. All rights reserved.