The norepinephrine transporter (NET) regulates levels of monoamine neurotransmitters integral to a variety of behaviors and autonomic functions. Two SLC6A2 polymorphisms have been used in genetic association studies, generating intriguing but nondefinitive results on traits such as hypertension and mood. One of these SLC6A2 variants is functional but rare. The other is common but not informative over the entire 48 kb SLC6A2 region and is insufficient to capture the functional diversity potentially contained within any SLC6A2 region. To elucidate SLC6A2 haplotype structure and define markers sufficient to capture haplotype diversity within detected haplotype blocks, 26 single-nucleotide polymorphisms (SNPs) were genotyped in 384 individuals evenly divided across Finnish Caucasian, US Caucasian, Plains American Indian, and African American populations. Three conserved blocks, 13.6, 12.5, and 25 kb in size and showing little evidence for historical recombination were observed in all populations. Haplotype diversity in block 1 and numbers of common haplotypes were highest in African Americans, among whom 5-6 optimal markers were sufficient to maximize diversity of each block. For other populations, 2-3 markers/block sufficed, but the optimal markers differed across populations. The SLC6A2 haplotype map and 25-marker panel (excluding the monomorphic one) is a comprehensive tool for genetic linkage studies on phenotypes related to NET function.

中文翻译：

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去甲肾上腺素转运蛋白基因SLC6A2在四个人群中的单倍型结构。

去甲肾上腺素转运蛋白（NET）调节各种行为和自主功能必不可少的单胺神经递质的水平。两种SLC6A2基因多态性已用于遗传关联研究中，对诸如高血压和情绪等性状产生了有趣但不确定的结果。这些SLC6A2变体之一具有功能，但很少见。另一个在整个48 kb SLC6A2区域中很常见，但没有提供足够的信息，并且不足以捕获任何SLC6A2区域中可能包含的功能多样性。为了阐明SLC6A2单倍型结构并定义足以捕获检测到的单倍型区块内单倍型多样性的标记，在384名个体中对26种单核苷酸多态性（SNP）进行了基因分型，平均分为芬兰高加索人，美国高加索人，美国印第安人平原，和非裔美国人的人口。在所有种群中均未观察到三个保守的片段，分别为13.6、12.5和25 kb，几乎没有历史重组的证据。在非裔美国人中，区块1中的单倍型多样性和常见单倍型数量最高，其中5-6个最佳标记足以使每个区块的多样性最大化。对于其他种群，每块2-3个标记就足够了，但是最佳标记因种群而异。SLC6A2单倍型图谱和25个标记的面板（不包括单态的）是用于研究与NET功能相关的表型的遗传连锁研究的综合工具。在非裔美国人中，区块1中的单倍型多样性和常见单倍型数量最高，其中5-6个最佳标记足以使每个区块的多样性最大化。对于其他种群，每块2-3个标记就足够了，但是最佳标记因种群而异。SLC6A2单倍型图谱和25个标记的面板（不包括单态的）是用于研究与NET功能相关的表型的遗传连锁研究的综合工具。在非裔美国人中，区块1中的单倍型多样性和常见单倍型数量最高，其中5-6个最佳标记足以使每个区块的多样性最大化。对于其他种群，每块2-3个标记就足够了，但是最佳标记因种群而异。SLC6A2单倍型图谱和25个标记的面板（不包括单态的）是用于研究与NET功能相关的表型的遗传连锁研究的综合工具。