Genetics of Complex Traits and Diseases: David Evans
Common diseases typically have complex etiologies and are a result of a myriad of different genetic and environmental factors acting and interacting together to increase or decrease risk of disease. Our group uses techniques including next generation sequencing and micro-array genotyping in conjunction with statistical methods such as genome-wide association and Mendelian Randomization to understand the genetic and environmental causes of complex traits and diseases. We have a particular interest in osteoporosis (thinning of the bones), immunological diseases such as eczema and ankylosing spondylitis (a form of auto-immune arthritis), and how early life factors might increase risk of disease later in life. We are also active in the development of statistical methodologies for detecting disease genes and for investigating possible causal relationships between modifiable environmental exposures and complex disease.
In this group
Genetics of osteoporosis
Osteoporosis refers to a progressive thinning of the bones that happens with old age particularly in women. We are in the process of discovering genes that contribute to risk of this disease that will potentially become targets for drug therapy in the future.
Key publications: Zheng et al. (in press). Whole-genome sequencing identifies non-coding variants near EN1 with large effects on bone mineral density. Nature.
Kemp et al. (2014). Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. PLoS Genet. 10(6), e1004423.
Genome-wide approaches to causal inference
It’s a well-known adage that correlation doesn’t necessarily imply causation. We are investigating how information from thousands of genetic markers across the genome can be utilized to assess whether observational associations reflect causal relationships.
Key publications: Evans & Davey-Smith (in press). Mendelian randomization: New applications in the coming age of hypothesis free causality. Annu Rev Genomics Hum Genet.
Evans et al. (2013). Mining the human phenome using allelic scores that index biological intermediates. PLoS Genet. 9(10), e1003919.
Genetics of eczema
Eczema is a highly heritable skin disease characterized by dry scaly skin and intense itching. We are in the process of discovering genetic variants that underlie risk of this disease.
Key publication: Paternoster et al. (2015). Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nature Genetics. 10.1038/ng.3424
Read more about this research on the University of Bristol news page.