The relevance of checking population allele frequencies and Hardy-Weinberg Equilibrium in genetic association studies: The case of SLC6A4 5-HTTLPR polymorphism in a Chinese Han Irritable Bowel Syndrome association study

During this genomic era, where genetics is assuming a crucial role both in clinical management of patients and in determining the best pharmacological therapy according to each subject’s genetic background, correcting errors assumes a fundamental relevance. Genetic association studies test for a correlation between disease status and genetic variation to identify candidate genes or genome regions that contribute to a specific disease and/or to a specific quantitative trait of clinical/pharmacological relevance. Despite the incredible advances achieved during the last three decades of genetic research, several association studies still yield conflicting results. These inconsistencies raise several concerns and reduce the potential clinical/translational impact of such findings.