Approved Research

Recovering the role of the X chromosome in complex diseases

Lay summary

The X chromosome has been mostly excluded from genetic studies of combination of complex diseases, diseases caused by multiple genes and environmental factors. The X chromosome contains 5% of the human genome, that means around 3% of genome functional information is not studied. This exclusion was indeed not motivated by biological reasons, rather by technical challenges.

In this work, we aim to provide insights into the role of the X chromosome in complex diseases. For this purpose, we developed an improved strategy for identifying genomic variants that are statistically associated with a risk for a disease (GWAS), that include for example quality control and gender association analysis. We expect our results to reveal new association signals on the X chromosome for different disorders, further highlighting regions with possible sex-differentiated effects.

Given the complexity of the project not only at the conceptual level but also at the computational level, its estimated duration is of 3 years. Overall, our findings could contribute to recover missing heritability, as well as to explain the widespread sexual different characteristics this kind of diseases.