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Shades of gray: a comparison of linkage disequilibrium between Hutterites and Europeans.

机译:灰色阴影:Hutterites与欧洲人之间的连锁不平衡比较。

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摘要

Founder or isolated populations have advantages for genetic studies due to decreased genetic and environmental heterogeneity. However, whereas longer-range linkage disequilibrium (LD) in these populations is expected to facilitate gene localization, extensive LD may actually limit the ability for gene discovery. The North American Hutterite population is one of the best characterized young founder populations and members of this isolate have been the subjects of our studies of complex traits, including fertility, asthma and cardiovascular disease, for >20 years. Here, we directly assess the patterns and extent of global LD using single nucleotide polymorphism genotypes with minor allele frequencies (MAFs) > or =5% from the Affymetrix GeneChip Mapping 500 K array in 60 relatively unrelated Hutterites and 60 unrelated Europeans (HapMap CEU). Although LD among some marker pairs extends further in the Hutterites than in Europeans, the pattern of LD and MAF are surprisingly similar. These results indicate that (1) identifying disease genes should be no more difficult in the Hutterites than in outbred European populations, (2) the same common susceptibility alleles for complex diseases should be present in the Hutterites and outbred European populations, and (3) imputation algorithms based on HapMap CEU should be applicable to the Hutterites.
机译:由于减少了遗传和环境异质性,建立或孤立的种群在遗传研究中具有优势。然而,尽管预期这些人群中的更长距离连锁不平衡(LD)有助于基因定位,但广泛的LD可能实际上限制了基因发现的能力。北美Hutterite人群是最有特色的年轻创建者人群之一,并且这种分离株的成员一直是我们研究复杂性状(包括生育,哮喘和心血管疾病)的对象,已有20多年的历史了。在这里,我们使用来自60个相对无关的Hutterites和60个不相关的欧洲人(Aapymetrix GeneChip Mapping 500 K)的Affymetrix GeneChip Mapping 500 K阵列的次要等位基因频率(MAF)>或= 5%的单核苷酸多态性基因型,直接评估了全球LD的模式和范围。尽管在某些标志物对中的LD在哈特人中比在欧洲人中延伸得更远,但LD和MAF的模式令人惊讶地相似。这些结果表明(1)在Hutterites中识别疾病基因应该不比在欧洲远交人群中困难;(2)在Hutterites和欧洲远交人群中应该存在相同的常见复杂易感性等位基因,以及(3)基于HapMap CEU的插补算法应适用于Hutterites。

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