From sexless to sexy: Why it is time for human genetics to consider and report analyses of sex.
- Authors
- Powers, Matthew S; Smith, Phillip H; McKee, Sherry A; Ehringer, Marissa A
- Year
- 2017
- Journal
- Biology of sex differences
- PMID
- 28473910
- DOI
- 10.1186/s13293-017-0136-8
- PMCID
- PMC5415751
Science has come a long way with regard to the consideration of sex differences in clinical and preclinical research, but one field remains behind the curve: human statistical genetics. The goal of this commentary is to raise awareness and discussion about how to best consider and evaluate possible sex effects in the context of large-scale human genetic studies. Over the course of this commentary, we reinforce the importance of interpreting genetic results in the context of biological sex, establish evidence that sex differences are not being considered in human statistical genetics, and discuss how best to conduct and report such analyses. Our recommendation is to run stratified analyses by sex no matter the sample size or the result and report the findings. Summary statistics from stratified analyses are helpful for meta-analyses, and patterns of sex-dependent associations may be hidden in a combined dataset. In the age of declining sequencing costs, large consortia efforts, and a number of useful control samples, it is now time for the field of human genetics to appropriately include sex in the design, analysis, and reporting of results.
No figures extracted from this document.
| # | Section | Preview |
|---|---|---|
| 20 | Background β Sex needs to be evaluated separately: best approach for evaluation of sex in genetic studies is to stratify | One strategy is to simply be less stringent in the rules for power and multiple testing p valueβ¦ |
| 21 | Background β Sex needs to be evaluated separately: best approach for evaluation of sex in genetic studies is to stratify | Another strategy is to make use of publicly available datasets, which are expanding every day.β¦ |
| 22 | Background β Sex needs to be evaluated separately: best approach for evaluation of sex in genetic studies is to stratify | Even without access to the large publicly available databases, consistently conducting and reportingβ¦ |
| 23 | Background β Sex needs to be evaluated separately: best approach for evaluation of sex in genetic studies is to stratify | Another strategy is for journal editors to require the reporting of sex statistics in order toβ¦ |
| 24 | Background β Sex needs to be evaluated separately: best approach for evaluation of sex in genetic studies is to stratify | At this time, our recommendation is for all human genetics experiments to conduct stratifiedβ¦ |
| 25 | Conclusion | The goal of this commentary is to raise awareness and discussion about how to best consider and⦠|
No entities extracted from this document yet.
No uploaded files.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Post-GWAS in Psychiatric Genetics: A Developmental Perspective on the "Other" Next Steps. | 2018 | 29227573 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| The systematic assessment of completeness of public metadata accompanying omics studies in the Gene Expression Omnibus data repository. | Huang YN et al. | β | 2025 | β |
| Characterizing the pathogenicity of genetic variants: the consequences of context. | Ciesielski TH et al. | β | 2024 | β |
| Chromosomal and environmental contributions to sex differences in the vulnerability to neurological and neuropsychiatric disorders: Implications for therapeutic interventions. | Pallier PN et al. | β | 2022 | β |
| Does sex alter the relationship between CYP2B6 variation, hydroxybupropion concentration and bupropion-aided smoking cessation in African Americans? A moderated mediation analysis. | Chenoweth MJ et al. | β | 2022 | β |
| Analyses of nicotine metabolism biomarker genetics stratified by sex in African and European Americans. | Chenoweth MJ et al. | β | 2021 | β |
| The systematic assessment of completeness of public metadata accompanying omics studies in the Gene Expression Omnibus | Huang Y et al. | β | 2021 | β |
| Diversity and inclusion for the All of Us research program: A scoping review. | Mapes BM et al. | β | 2020 | β |
| Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders. | Merikangas AK et al. | β | 2020 | β |
| Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. | Ostrom QT et al. | β | 2018 | β |
| Post-GWAS in Psychiatric Genetics: A Developmental Perspective on the "Other" Next Steps. | Dick DM et al. | β | 2018 | β |
| Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors. | Polimanti R et al. | β | 2017 | β |