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Approved research

A Statistical Framework to Discover Sex-Specific Genetic Effect

Principal Investigator: Dr Nikolaos Patsopoulos
Approved Research ID: 46030
Approval date: February 13th 2019

Lay summary

Our primary aim is to discover the sex-specific genetic variants, regardless of the way they are associated with a certain disease or trait. By setting this aim, we seek to answer the question that 1) what are the genetic variants that have sex-specific effects on a certain disease or traits. And 2), are those variants impacting the disease or traits through their additive effect, other genetic models, or their interactions with sex. Many diseases, including most of the autoimmune related diseases, show strong disproportionality between genders. Previous researches often focus either the effect of the variant itself, or on interaction of variant with sex. However, there is no method to jointly estimate both effects and discover the sex-specific genetic architecture therefrom. To achieve the above aim, we will propose a framework to 1) identify sex-specific genetic variants through statistical tests on the joint effect of additive model of the genetic variants, and their interaction with sex; and 2), further distinguish and categorize the types of effecting patterns of the variants, in order to further unravel the biological pathways and mechanisms involving those variants. By addressing the above questions, discovering the sex-specific genetic architectures of the traits/diseases that shows strong variance in incident rates between sexes, we hope to shed light on finding the genetic causations on those diseases. And furthermore, by categorizing them by patterns of their sex-specific effects on the traits/diseases, we seek to deepen the understanding of the pathways and mechanisms of those diseases.