Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups
Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups
复制标题
DOI：
10.1038/ng1456
复制
发表时间：
2004-11-01
期刊：
影响因子：
30.8
通讯作者：
Risch, N
中科院分区：
文献类型：
--
作者：
Mountain, JL;Risch, N
考虑到在此期间DNA序列数据的大量积累，30年前对人类遗传变异的描述一直保持得很好。最重要的是，对群体间遗传变异的估计仍然相对较低。尽管组间变异的平均水平较低，但最近从多位点遗传数据推断出的群集与自我认定的种族或大陆祖先定义的群体密切吻合。这种对应关系暗示遗传因素可能导致无法解释的组间表型变异。然而，目前对基因对大多数复杂性状变异的贡献的理解是有限的。在这种情况下，关于基因对群体差异的贡献的假设是没有根据的。在缺乏详细了解的情况下，“种族”和“民族”分类在生物医学研究中将仍然有用。此外，我们提出了评估遗传因素对组间表型差异贡献的方法和指南，包括候选基因的研究和最近混合群体的分析。
Descriptions of human genetic variation given thirty years ago have held up well, considering the substantial accrual of DNA sequence data in the interim. Most importantly, estimates of between-group genetic variation have remained relatively low. Despite the low average level of between-group variation, clusters recently inferred from multilocus genetic data coincide closely with groups defined by self-identified race or continental ancestry. This correspondence implies that genetic factors might contribute to unexplained between-group phenotypic variation. Current understanding of the contribution of genes to variation in most complex traits is limited, however. Under these circumstances, assumptions about genetic contributions to group differences are unfounded. In the absence of detailed understanding, 'racial' and 'ethnic' categories will remain useful in biomedical research. Further, we suggest approaches and guidelines for assessing the contribution of genetic factors to between-group phenotypic differences, including studies of candidate genes and analyses of recently admixed populations.