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Eybpoosh S. Hardy Weinberg Equilibrium Testing and Interpretation: Focus on infection. JoMMID 2018; 6 (1) :35-36
URL: http://jommid.pasteur.ac.ir/article-1-174-en.html
Hardy Weinberg Equilibrium Testing and Interpretation: Focus on infection
Sana Eybpoosh *
Department of Epidemiology and Biostatistics, Research Centre for Emerging and Reemerging infectious diseases, Pasteur Institute of Iran, Tehran, Iran
Abstract:   (7090 Views)
Hardy-Weinberg equilibrium (HWE) holds when, in a closed population with random mating and without mutation and natural selection, genotype frequencies at any locus is a simple function of allele frequencies. Testing for HWE is now a common practice in population genetics and genetic association studies of non-communicable diseases; however, it is less-regarded, or sometimes miss-interpreted, in the context of infectious diseases. In both fields, conforming to HWE assumption is usually desired. These expectations are assumed to hold for most healthy human populations, and deviations from HWE at particular markers may suggest population sub-structure, problems with genotyping or, in samples of diseased individuals, an association with the disease. Deviations from HWE are tested using simple Pearson’s χ2 test, or an equivalent log-likelihood-ratio test. The tests evaluate the degree of difference between observed genotype and allele frequencies with the frequencies that are expected if HWE assumption holds. So, statistically significant test results are suggestive of deviation from HWE assumption. Departures from HWE may suggest that allele-disease associations are biased, which should invoke thinking for the underlying reason.
Keywords: Hardy-Weinberg equilibrium, Genotyping Technique, Genetic Association Studies, Infection
Full-Text [PDF 121 kb]   (2331 Downloads)    
Type of Study: Letter to the Editor | Subject: Epidemiologic studies including microbial genotyping, phenotyping and serotyping
Received: 2018/08/1 | Accepted: 2018/08/8 | Published: 2018/08/27
References
1. ------------- 1. Wittke-Thompson JK, Pluzhnikov A, Cox NJ. Rational inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet. 2005; 76 (6): 967-86. [DOI:10.1086/430507] [PMID] [PMCID]
2. 2. Hardy GH. Mendelian proportions in a mixed population. Science. 1908; 28 (706): 49-50. [DOI:10.1126/science.28.706.49] [PMID]
3. 3. Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, Bansal A, et al. Detection of genotyping errors by Hardy-Weinberg equilibrium testing. Eur J Hum Genet. 2004; 12 (5): 395-9. [DOI:10.1038/sj.ejhg.5201164] [PMID]
4. 4. Salanti G1, Amountza G, Ntzani EE, Ioannidis JP. Hardy-Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power. Eur J Hum Genet. 2005; 13 (7): 840-8. [DOI:10.1038/sj.ejhg.5201410] [PMID]
5. 5. Bardoczy Z, Gyorffy B, Kocsis I, Vasarhelyi B. Re-calculated Hardy–Weinberg values in papers published in Atherosclerosis between 1995 and 2003. Atherosclerosis. 2004; 173 (1): 141-3. [DOI:10.1016/j.atherosclerosis.2003.11.017] [PMID]
6. 6. Alubadi AEM, Salih AM, Alkhamesi MBN, Ali NJ. Gene frequencies of ABO and rhesus blood groups in Sabians (Mandaeans), Iraq. Baghdad Sci J. 2014; 11 (2): 1035-42.
7. 7. Eybpoosh S, Haghdoost AA, Mostafavi E, Bahrampour A, Azadmanesh K, Zolala F. Molecular epidemiology of infectious diseases. Electron Phys. 2017; 9 (8): 5149-58. [DOI:10.19082/5149] [PMID] [PMCID]
8. 8. Khoury MJ, Little J, Burke W. Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent disease. New York: Oxford University Press, 2004.
9. 9. Khoury MJ, Beaty TH, Cohen BH. Fundamentals of genetic epidemiology. New York: Oxford University Press, 1993. [PMCID]
10. 10. Mehrbod P, Eybpoosh S, Fotouhi F, Shokouhi Targhi H, Mazaheri V, Farahmand B. Association of IFITM3 rs12252 polymorphisms, BMI, diabetes, and hypercholesterolemia with mild flu in an Iranian population. Virol J. 2017; 14 (1): 218. [DOI:10.1186/s12985-017-0884-4] [PMID] [PMCID]
11. 11. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008; 9 (5): 356-69. [DOI:10.1038/nrg2344] [PMID]
12. 12. Khoury MJ, Little J, Burke W: Human genome epidemiology. a scientific foundation for using genetic information to improve health and prevent disease. New York: Oxford University Press, 2004.
13. 13. Sham P. Statistics in human genetics. London: Arnold Publishers, 2001.
14. 14. Ward R, Carroll RJ. Testing Hardy-Weinberg equilibrium with a simple root-mean-square statistic. Biostatistics. 2014; 15 (1): 74-86. [DOI:10.1093/biostatistics/kxt028] [PMID]
15. 15. Relethford JH. Human Population Genetics. 1 edition. New Jersey: Wiley-Blackwell; 2012. [DOI:10.1002/9781118181652]
16. 16. Kimura A. Departure from the Hardy-Weinberg equilibrium. Gene. 2014; 537 (2): 357. [DOI:10.1016/j.gene.2014.01.005] [PMID]
17. 17. Lachance J. Hardy–Weinberg Equilibrium and Random Mating. Encycloped Evol Biol. 2016: 208-11. [DOI:10.1016/B978-0-12-800049-6.00022-6]
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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.