Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes

@inproceedings{Wallace2012StatisticalCO,
  title={Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes},
  author={Chris Wallace and Maxime Rotival and Jason David Cooper and Catherine M. Rice and Jennie H M Yang and Mhairi McNeill and Deborah J. Smyth and David Niblett and François Cambien and Laurence Tiret and John A. Todd and David G. Clayton and Stefan Blankenberg},
  booktitle={Human molecular genetics},
  year={2012}
}
One mechanism by which disease-associated DNA variation can alter disease risk is altering gene expression. However, linkage disequilibrium (LD) between variants, mostly single-nucleotide polymorphisms (SNPs), means it is not sufficient to show that a particular variant associates with both disease and expression, as there could be two distinct causal variants in LD. Here, we describe a formal statistical test of colocalization and apply it to type 1 diabetes (T1D)-associated regions identified… CONTINUE READING

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