TY - JOUR ID - 250278 TI - The Essentiality of Reporting Hardy-Weinberg Equilibrium Calculations in Population-Based Genetic Association Studies JO - Cell Journal (Yakhteh) JA - CELLJ LA - en SN - 2228-5806 AU - Namipashaki, Atefeh AU - Razaghi-Moghadam, Zahra AU - Ansari-Pour, Naser AD - Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran AD - Faculty of New Sciences and Technology, University of Tehran, Tehran, Iran Y1 - 2015 PY - 2015 VL - 17 IS - 2 SP - 187 EP - 192 KW - Genetic Association KW - Hardy KW - Weinberg Equilibrium KW - Population Stratification KW - Polymorphism KW - Bias DO - 10.22074/cellj.2016.3711 N2 - Population-based genetic association studies have proven to be a powerful tool in identifying genes implicated in many complex human diseases that have a huge impact on public health. An essential quality control step in such studies is to undertake Hardy-Weinberg equilibrium (HWE) calculations. Deviations from HWE in the control group may reflect important problems including selection bias, population stratification and genotyping errors. If HWE is violated, the inferences of these studies may thus be biased. We therefore aimed to examine the extent to which HWE calculations are reported in genetic association studies published in Cell Journal(Yakhteh)(Cell J). Using keywords pertaining to genetic association studies, eleven relevant articles were identified of which ten provided full genotypic data. The genotype distribution of 16 single nucleotide polymorphisms (SNPs) was re-analyzed for HWE by using three different methods where appropriate. HWE was not reported in 60% of all articles investigated. Among those reporting, only one article provided calculations correctly and in detail. Therefore, 90% of articles analyzed failed to provide sufficient HWE data. Interestingly, three articles had significant HWE deviation in their control groups of which one highly deviated from HWE expectations (P= 9.8×10-12). We thus show that HWE calculations are under-reported in genetic association studies published in this journal. Furthermore, the conclusions of the three studies showing significant HWE in their control groups should be treated cautiously as they may be potentially misleading. We therefore recommend that reporting of detailed HWE calculations should become mandatory for such studies in the future. UR - https://www.celljournal.org/article_250278.html L1 - https://www.celljournal.org/article_250278_451fe4fcb24885b5ebe9f36ea5d0820c.pdf ER -