Huttley G A, Wilson S R
Human Genetics Group, John Curtin School of Medical Research, The Australian National University, Canberra, ACT 0200, Australia.
Genetics. 2000 Dec;156(4):2127-35. doi: 10.1093/genetics/156.4.2127.
A substantial body of theory has been developed to assess the effect of evolutionary forces on the distribution of genotypes, both single and multilocus, within populations. One area where the potential for application of this theory has not been fully appreciated concerns the extent to which population samples differ. Within populations, the divergence of genotype or haplotype frequencies from that expected under Hardy-Weinberg (HW) or linkage equilibrium can be measured as disequilibria coefficients. To assess population samples for concordant equilibria, an analytical framework for comparing disequilibria coefficients between populations is necessary. Here we present log-linear models to evaluate such hypotheses. These models have broad utility ranging from conventional population genetics to genetic epidemiology. We demonstrate the use of these log-linear models (1) as a test for genetic association with disease and (2) as a test for different levels of linkage disequilibria between human populations.
已经发展出了大量理论来评估进化力量对群体内单基因座和多基因座基因型分布的影响。该理论的应用潜力尚未得到充分认识的一个领域涉及群体样本的差异程度。在群体内部,基因型或单倍型频率与哈迪-温伯格(HW)平衡或连锁平衡预期值的偏差可以用不平衡系数来衡量。为了评估群体样本是否存在一致的平衡,需要一个用于比较群体间不平衡系数的分析框架。在此,我们提出对数线性模型来评估此类假设。这些模型具有广泛的用途,从传统群体遗传学到遗传流行病学。我们展示了这些对数线性模型的用途:(1)作为疾病遗传关联的检验方法;(2)作为人类群体间不同连锁不平衡水平的检验方法。