The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study

  title={The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study},
  author={Alexandra C. Nica and Leopold Parts and Daniel A Glass and James Nisbet and Amy Barrett and Magdalena Sekowska and Mary Ann K Travers and Simon Potter and Elin Grundberg and Kerrin S. Small and {\AA}sa K Hedman and V{\'e}ronique Bataille and Jordana Tzenova Bell and Gabriela L. Surdulescu and Antigone S. Dimas and Catherine C Ingle and Frank O. Nestle and Paola Di Meglio and Josine L. Min and Alicja E Wilk and Christopher J Hammond and Neelam Hassanali and Tsun-Po Yang and Stephen B. Montgomery and Stephen O'Rahilly and Cecilia M. Lindgren and Krina T Zondervan and Nicole Soranzo and In{\^e}s Barroso and Richard Durbin and Kourosh Ahmadi and Panagiotis Deloukas and Mark I. McCarthy and Emmanouil T. Dermitzakis and Tim D. Spector},
  booktitle={PLoS genetics},
While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not yet well understood. We explore in depth the role of cis-regulatory variation in three human tissues: lymphoblastoid cell lines (LCL), skin, and fat. The samples (156 LCL, 160 skin, 166 fat) were derived simultaneously from a subset of well-phenotyped healthy female twins of the MuTHER resource. We discover an abundance of cis-eQTLs in each… CONTINUE READING
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