Population description and its role in the interpretation of genetic association.
Population description and its role in the interpretation of genetic association.
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DOI：
10.1007/s00439-010-0800-0
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发表时间：
2010-03
期刊：
影响因子：
5.3
通讯作者：
Burke W
中科院分区：
文献类型：
--
作者：
Fullerton SM;Yu JH;Crouch J;Fryer-Edwards K;Burke W
尽管人们呼吁更清晰和精确的人口描述，研究记录了在遗传研究中使用种族/族裔术语的持续模糊性。目前尚不清楚为什么研究人员容忍这种模糊性，或者这些做法对评估报告的关联有什么影响。为了探索人群描述用于复制和/或扩展先前报道的遗传观察结果的方式，我们检查了1997年至2005年期间发表的描述过氧化物酶体增殖物激活受体-γ-Pro 12 Ala多态性与2型糖尿病和相关表型相关性的文章。确定的80篇文章进行了详细的内容分析，以确定（1）如何描述抽样人群，（2）是否和如何解释样本的选择，以及（3）如何将等位基因频率和遗传关联结果确定为背景和解释。与以前的报告一样，我们观察到各种各样的样本描述和对调查人群选择的解释很少。欧洲来源的样本通常比其他来源的样本具有更高的特异性。然而，欧洲样本的结果几乎总是与描述为“高加索人”的样本进行比较，有时会推广到所有高加索人或所有人类。这些研究结果表明，护理与人口描述，虽然重要，可能无法完全解决分析问题的解释变量的研究结果或伦理问题的遗传观察到广泛的社会群体的属性。相反，可能需要一些标准来帮助研究人员更好地区分人口泛化的合理和不合理形式。
Despite calls for greater clarity and precision of population description, studies have documented persistent ambiguity in the use of race/ethnicity terms in genetic research. It is unclear why investigators tolerate such ambiguity, or what effect these practices have on the evaluation of reported associations. To explore the way that population description is used to replicate and/or extend previously reported genetic observations, we examined articles describing the association of the peroxisome proliferator-activated receptor-gamma-γ Pro12Ala polymorphism with type 2 diabetes mellitus and related phenotypes, published between 1997 and 2005. The 80 articles identified were subjected to a detailed content analysis to determine (1) how sampled populations were described, (2) whether and how the choice of sample was explained, and (3) how the allele frequency and genetic association findings identified were contextualized and interpreted. In common with previous reports, we observed a variety of sample descriptions and little explanation for the choice of population investigated. Samples of European origin were typically described with greater specificity than samples of other origin. However, findings from European samples were nearly always compared to samples described as “Caucasian” and sometimes generalized to all Caucasians or to all humans. These findings suggest that care with population description, while important, may not fully address analytical concerns regarding the interpretation of variable study outcomes or ethical concerns regarding the attribution of genetic observations to broad social groups. Instead, criteria which help investigators better distinguish justified and unjustified forms of population generalization may be required.
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