Hardy-Weinberg equilibrium and genetic association study
Article first published online: 21 DEC 2011
© 2011 The Authors. Respirology © 2011 Asian Pacific Society of Respirology
Volume 17, Issue 1, pages 191–192, January 2012
How to Cite
Wang, X., Liu, Q. and Chen, Q. (2012), Hardy-Weinberg equilibrium and genetic association study. Respirology, 17: 191–192. doi: 10.1111/j.1440-1843.2011.02063.x
- Issue published online: 21 DEC 2011
- Article first published online: 21 DEC 2011
- Accepted manuscript online: 14 SEP 2011 06:56PM EST
We appreciate the interest of Denholm and McBryde and their support for the findings published in our article. The test for Hardy–Weinberg equilibrium (HWE) is very important and necessary in association studies.
G.H. Hardy and W. Weinberg individually came to the same conclusion that without the influence of migration and selection, the mutation rate and frequency of genotypes will remain stable for generations in a large and randomly mating population. Such a population is said to be in genetic equilibrium.1,2 Testing for HWE is commonly used for quality control of large-scale genotyping and is one of the few ways of identifying systematic genotyping errors in unrelated individuals.3,4
Departure from HWE may occur for many reasons, including biological factors, genotyping errors, random events or failure to satisfy the requisite assumptions for HWE. However, some investigators believe that any marker showing departure from HWE is likely to be erroneous and/or misleading; as a result, information that is of value for mapping and identifying causal polymorphisms may be discarded. Nevertheless, the homogeneity of the genetic background of the population and the reliability of association analyses must be ensured. Therefore, fulfilment of HWE for control populations must be one of the inclusion criteria for meta-analyses of genetic association studies.
- 2On the demonstration of heredity in man. In: Boyer SH (ed.) (1963) Papers on Human Genetics. Prentice Hall, Englewood Cliffs, NJ, 1908; 4–15..