Bias, precision and heritability of self-reported and clinically measured height in Australian twins
Bias, precision and heritability of self-reported and clinically measured height in Australian twins
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DOI：
10.1007/s00439-006-0240-z
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发表时间：
2006-11-01
期刊：
影响因子：
5.3
通讯作者：
Visscher, Peter M.
中科院分区：
文献类型：
--
作者：
Macgregor, Stuart;Cornes, Belinda K.;Visscher, Peter M.
人类遗传学的数量和疾病特征的许多研究依赖于自我报告的测量。这些措施基于问卷调查或访谈，通常比其他方法更便宜，更容易获得。然而，精度和潜在偏差通常无法评估。在这里，我们报告了一个详细的定量遗传分析的身高。我们利用大量澳大利亚双胞胎（857 MZ, 815 DZ）的临床和自我报告的身高测量来表征测量误差的程度。自我报告的身高测量结果比临床测量结果变化更大。这导致许多先前的身高研究降低了对遗传力的估计。在我们的双胞胎样本中，临床身高的遗传率估计超过90%。重复测量分析表明，需要2-3倍的自我报告测量来恢复类似于从临床测量中获得的遗传力估计。双变量遗传重复测量分析显示，自我报告和临床身高测量的加性遗传相关为bb0 0.98。我们发现，在年龄较大的个体和身材矮小的个体中，自我报告身高的准确性呈上升趋势。通过比较临床和自我报告的测量结果，我们还发现，女性系统地错误报告身高与遗传因素有关；这种现象在男性中似乎并不存在。测量误差分析的结果随后被用于评估误差对基因组扫描中检测连锁能力的影响。适度减少误差（通过使用准确的临床或多重自我报告测量）使有效样本量增加22%；消除测量误差导致有效样本量增加41%。
Many studies of quantitative and disease traits in human genetics rely upon self-reported measures. Such measures are based on questionnaires or interviews and are often cheaper and more readily available than alternatives. However, the precision and potential bias cannot usually be assessed. Here we report a detailed quantitative genetic analysis of stature. We characterise the degree of measurement error by utilising a large sample of Australian twin pairs (857 MZ, 815 DZ) with both clinical and self-reported measures of height. Self-report height measurements are shown to be more variable than clinical measures. This has led to lowered estimates of heritability in many previous studies of stature. In our twin sample the heritability estimate for clinical height exceeded 90%. Repeated measures analysis shows that 2-3 times as many self-report measures are required to recover heritability estimates similar to those obtained from clinical measures. Bivariate genetic repeated measures analysis of self-report and clinical height measures showed an additive genetic correlation > 0.98. We show that the accuracy of self-report height is upwardly biased in older individuals and in individuals of short stature. By comparing clinical and self-report measures we also showed that there was a genetic component to females systematically reporting their height incorrectly; this phenomenon appeared to not be present in males. The results from the measurement error analysis were subsequently used to assess the effects of error on the power to detect linkage in a genome scan. Moderate reduction in error (through the use of accurate clinical or multiple self-report measures) increased the effective sample size by 22%; elimination of measurement error led to increases in effective sample size of 41%.