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Approved research

Phenome and genome wide association analysis to explore sexually-dimorphic phenotypes

Principal Investigator: Professor Paul Avillach
Approved Research ID: 52451
Approval date: September 26th 2019

Lay summary

Sexual dimorphism explains the phenotypic differences of biological and behavioral origin between males and females, without considering their sexual organs. Some phenotypes exhibit distinct prevalence when comparing different sex patients. For instance, in the case of neurodegenerative diseases, Alzheimer's disease is more likely to occur among females, whereas Parkinson's disease occurs more frequently in males. Within the PheWAS catalog we can identify more than 1,600 different codes, each one of which corresponds to a specific phenotype. However, these codes have not been evaluated from a sex difference perspective. The aims of this project are to: (i) determine the statistically significant sex-dimorphic phenotypes in the UK biobank population; (ii) to identify potential variants associated to the sexual-dimorphic phenotypes for the most statistically significant phenotypes. To accomplish the previous aims we propose to carry out: (i) a phenotype comorbidity analysis between all the possible phenotypes present in the UK biobank patients, (ii) a double phenome-wide association analysis (PheWAS) for a selected group of statistically significant sexually-dimorphic phenotypes. To the best of our knowledge, this will be the first large-scale phenotype and genotype analysis based on sex. Moreover, we will not restrict the analysis to a specific list of phenotypes, as every phenotype present in the hospital in-patient diagnostic will be analyzed. The expected outcome of this effort is to identify sex-specific risks and protective factors using both, genotypic and phenotypic information from the UK Biobank, providing valuable information to understand how sex influence disease.