Sex differences in disease genetics

Gilks, William P (2016) Sex differences in disease genetics. eLS. pp. 1-7. ISSN 1618-0240

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There is long‐standing evidence for the gene‐by‐sex interactions in disease risk, which can now be tested in genome‐wide association studies with participant numbers in the hundreds of thousands. The current methods start with a separate test for each sex, but a more powerful approach is to use sex as an interaction term in a combined sample. The most compelling evidence is for adiposity (predictive of cardiac disease) as well as type II diabetes, asthma and inflammatory bowel disease. Autism exhibits a different kind of sex difference, with hypermasculinisation of the brain, and the intriguing enrichment of structural variants in females. Sexually dimorphic gene expression varies exquisitely and unexpectedly, by tissue, age and chromosome, so sex‐dependent genetic effects are expected for a wide range of diseases. Because natural selection against sex‐dependent risk alleles is in one sex only, their effect size is expected to be greater than conventional risk loci.

Item Type: Article
Keywords: disease, genetics, sex, gender, GxS, GWAS, genomics, adiposity, autoimmunity
Schools and Departments: School of Life Sciences > Evolution, Behaviour and Environment
Subjects: R Medicine > RB Pathology
Depositing User: William Gilks
Date Deposited: 09 Nov 2016 15:16
Last Modified: 20 Jan 2021 13:20

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Project NameSussex Project NumberFunderFunder Ref
2Sexes_1Genome: Sex-specific genetic effects on fitness and human diseaseG0781EUROPEAN UNION2011-STG280632