Significance of the Hardy–Weinberg equilibrium in genetic association studies

Saadat, Mostafa

doi:10.1016/j.psychres.2011.01.022

Cited by 6 publications

(5 citation statements)

References 7 publications

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“…as it is an entity that necessarily shifts and changes over time. Researchers have been paying attention to the characteristics that lead populations to change (Saadat, 2011), some specific to psychological processes such as looping effects in which psychological concepts influence the public sphere (Hacking, 1994). Similarly, the experience and practice of a phenomenon is hard to pin down on its own and evolves.…”

Section: Discussionmentioning

confidence: 99%

Qualitative generalization, not to the population but to the phenomenon: Reconceptualizing variation in qualitative research.

Levitt¹

2021

Qualitative Psychology

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A question that qualitative researchers are asked frequently is how they justify generalizing their finding to populations. In this article, I argue that this question results from a misunderstanding of generalization that conflates of the logic and mechanics of statistical generalization with that inherent in the process typically used in qualitative methods, which does not rely on probability sampling procedures. To clarify the differences in these processes, I propose the concept of qualitative generalization. It is built upon the work of scholars who have identified the logic of qualitative research as rooted in a cycle of inferential processes that identify forms of stability and variation in their data. Instead of using probability sampling to capture variability in samples which reflects that in a population, qualitative researchers use this cycle to develop a map of variation in their data, which reflects the practice and experience of the phenomena under study-a logic describing generalization to the phenomenon, not the population. The initial application of this self-correcting cycle of inferences underpins the later stage of transferability of findings by readers. The framework of methodological integrity is considered to explain how research goals, epistemological perspectives, and study characteristics (e.g., diversity) influence the identification of variation and, ultimately, qualitative generalization. This framework orients researchers to identify variation that can increase fidelity and utility, supporting qualitative generalization. The formulation of qualitative generalization proposed is seen as congruent with existing practices across a variety of qualitative traditions and with reasoning intrinsic to qualitative methods.

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Section: Discussionmentioning

confidence: 99%

Qualitative generalization, not to the population but to the phenomenon: Reconceptualizing variation in qualitative research.

Levitt¹

2021

Qualitative Psychology

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“…Our present findings are not consistent with the abovementioned report. As strongly recommended by STrengthening the REporting of Genetic Association studies (STREGA), the observed frequencies of the genotypes in control group should show no significant deviation from the expected values based on the Hardy-Weinberg equilibrium (30, 31). However, in the study of Khodayari et al (29), although the CT genotype was observed in 69.2 percent of control persons, there was no healthy control subject having the TT genotype; therefore, it is worthwhile to consider that there is significant difference between the observed genotypic frequencies and the expected ones based on the Hardy–Weinberg equilibrium (P<0.001).…”

Section: Discussionmentioning

confidence: 99%

Susceptibility to Ulcerative Colitis and Genetic Polymorphisms of A251G SOD1 and C-262T CAT

El-Kheshen

Moeini

Saadat

2016

Journal of Medical Biochemistry

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SummaryBackgroundReactive oxygen species can attack and damage almost every molecule found in living cells, including proteins, carbohydrates, lipids, and DNA. For this reason, their production is normally tightly controlled. Among the most important defenses against these radicals are the superoxide dismutase (SOD) enzymes and catalase (CAT). Increasing attention has been given to the role of reactive oxygen metabolites in the pathogenesis of ulcerative colitis (UC), which is defined as an idiopathic and chronic intestinal inflammation. Accordingly, we hypothesized a relation between genetic polymorphisms in the two antioxidant enzymes SOD1 A251G (rs2070424) and CAT C-262T (rs1001179) and the risk of UC.MethodsThe present case-control study included 109 UC patients (46 males and 50 females) and 186 (67 males and 119 females) gender-matched healthy controls. Genotyping was done by the PCR-RFLP method.ResultsAfter adjusting for age and gender, a significant association was observed between the AG+GG genotypes of SOD1 A251G polymorphism (vs. AA genotype) and risk of UC (OR=0.29, 95% CI: 0.10–0.86, P= 0.025) after adjusting for age and gender. Our statistical analysis revealed that the CAT C-262T polymorphism did not associate with the risk of UC before and/or after adjusting for age and gender.ConclusionsBased on the present statistical analysis, the G allele of the SOD1 A251G polymorphism decreases the risk of UC, thus it might be assumed that the G allele has a protective role.

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“…Regrettably, some researchers neglect the process of comparing observed and expected frequencies, commit calculation mistakes or overlook statistical significance. Many researchers are not aware that oversimplification often results in number of publications reporting both false‐positive and false‐negative correlations (Saadat, 2024).…”

Section: Resultsmentioning

confidence: 99%

“…How to cite this article: Saadat, M. (2024). Evaluation of Hardy-Weinberg equilibrium in genetic association studies.…”

Section: Conflict Of Interest Statementmentioning

confidence: 99%

Evaluation of Hardy–Weinberg equilibrium in genetic association studies

Saadat

2024

Int J Immunogenetics

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STrengthening the REporting of Genetic Association (STREGA) studies strongly recommend that researchers assess the Hardy–Weinberg equilibrium (HWE) in their control groups. The exact frequency of studies in which their control subjects show a significant deviation from the HWE is not well established. Therefore, the present study was conducted. The electronic database PubMed was searched using the terms: ‘meta‐analysis’ and ‘polymorphism’. Data of original articles were extracted from meta‐analysis. The STREGA statement was published in 2009. Therefore, studies were divided into two groups, before and after the statement. After data collection, quartiles for sample size and minor allele frequency (MAF) were determined separately. A total of 772 independent studies were extracted from these meta‐analyses and included in the current study. Multivariate analysis revealed the following associations: (1) Reports published after the STREGA statement (compared to before the statement) were associated with an increased prevalence of deviation from HWE. (2) Reports with sample size Q2–Q4 versus Q1 were associated with an increased prevalence of deviation from HWE. (3) Studies with MAF Q4 versus Q1 were negatively associated with the prevalence of reports of deviation from HWE. We conclude that the STREGA statement failed to change the attitudes and practices of researchers and editors towards the importance of HWE.

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Significance of the Hardy–Weinberg equilibrium in genetic association studies

Cited by 6 publications

References 7 publications

Qualitative generalization, not to the population but to the phenomenon: Reconceptualizing variation in qualitative research.

Qualitative generalization, not to the population but to the phenomenon: Reconceptualizing variation in qualitative research.

Susceptibility to Ulcerative Colitis and Genetic Polymorphisms of A251G SOD1 and C-262T CAT

Evaluation of Hardy–Weinberg equilibrium in genetic association studies

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