Ioannidis John P A, Ntzani Evangelia E, Trikalinos Thomas A
Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45110, Greece.
Nat Genet. 2004 Dec;36(12):1312-8. doi: 10.1038/ng1474. Epub 2004 Nov 14.
'Racial' differences are frequently debated in clinical, epidemiological and molecular research and beyond. In particular, there is considerable controversy regarding the existence and importance of 'racial' differences in genetic effects for complex diseases influenced by a large number of genes. An important question is whether ancestry influences the impact of each gene variant on the disease risk. Here, we addressed this question by examining the genetic effects for 43 validated gene-disease associations across 697 study populations of various descents. The frequencies of the genetic marker of interest in the control populations often (58%) showed large heterogeneity (statistical variability) between 'races'. Conversely, we saw large heterogeneity in the genetic effects (odds ratios) between 'races' in only 14% of cases. Genetic markers for proposed gene-disease associations vary in frequency across populations, but their biological impact on the risk for common diseases may usually be consistent across traditional 'racial' boundaries.
“种族”差异在临床、流行病学及分子研究等诸多领域一直备受争议。特别是，对于受大量基因影响的复杂疾病，“种族”差异在遗传效应方面的存在性及重要性存在相当大的争议。一个重要问题是，血统是否会影响每个基因变异对疾病风险的影响。在此，我们通过研究697个不同血统研究人群中43个已验证的基因与疾病关联的遗传效应来解决这个问题。对照人群中感兴趣的遗传标记频率在“种族”之间常常（58%）表现出很大的异质性（统计变异性）。相反，在仅14%的案例中，我们发现“种族”之间的遗传效应（优势比）存在很大异质性。拟议的基因与疾病关联的遗传标记在不同人群中的频率各异，但其对常见疾病风险的生物学影响通常可能跨越传统的“种族”界限保持一致。
