One might wonder how biological sex may be over looked in human genetic studies, given that the genome itself contains a glaring sex-difference: the presence or absence of the Y chromosome. However, a recent commentary published in the journal, Biology of Sex Differences, highlights the fact that human genetic studies often overlook or under-report sex differences . Similar to trends in other fields, the authors found that only 1% of studies which look for genetic links to diseases and disorders, otherwise known as genome-wide association studies, report results based on sex. They posit that while investigators are more than likely considering sex-differences, the complex datasets generated by genome-wide studies are typically analyzed by simple statistical methods in order to identify the most significant results. Thus, the data may not be analyzed directly by sex to increase statistical power. Alternatively, data sets which are analyzed by sex, but do not identify any apparent sex-differences, may never be reported. The authors provide the following recommendations for incorporating sex into genetic study design:
- Perform separate analyses on male and female data
- Utilize publically-available data sets to increase sample size
- Encourage journals to require the reporting of sex statistics.
To read the full article, “From sexless to sexy: Why it is time for human genetics to consider and report analyses of sex,” click here.
1. Powers et al., Biology of Sex Differences. 2017; 8:15