Genomics of quantitative variation

Nicole Soranzo, leader of the Genomics of quantitative trait variation in humans team, is interested in the use of quantitative intermediate traits to unravel novel mechanisms underlying common, complex diseases such as cardiovascular and metabolic diseases.

The team works mainly on TwinsUK, a large UK-based collection of individuals with extensive phenotypic and genomic data developed in partial collaboration with the Wellcome Trust Sanger Institute and with funding from the Wellcome Trust.

[Genome Research Limited]

Background

Over the past two years, the team have been involved in the analysis of a large number of genome-wide association studies of intermediate traits and coronary artery disease outcomes within the frame of large international consortia and EU-funded initiatives (MAGIC, GIANT, EUROCLOT, CARDIOGENICS, BLOODOMICS, ENGAGE, CHARGE and HaemGen).

Research

Aims

  • To study the allelic architecture of human quantitative phenotypic variation at the genome-wide level.
  • To correlate genetic determinants of quantitative variation with disease outcomes.

Genomics of quantitative trait variation in cardio-metabolic disease

The team works to expand discovery of novel genetic loci for intermediate cardio-metabolic endpoints. Their aim is to dissect the contribution of genetic variants underlying pathophysiologic processes through associations of common and rare DNA variation with cellular, biochemical and physiologic phenotypes as well as gene expression and metabolic profiles. The team also works in collaboration with clinicians to understand the clinical relevance of such loci in common and rare forms of coronary artery disease and myocardial infarction (see below). They work within the frame of large international consortia focusing on anthropometric (GIANT), haemostatic (CHARGE, EUROCLOT), glycemic (MAGIC) and hematological traits (HaemGen).

Genetics of coronary artery disease and myocardial infarction

The Genomics of quantitative trait variation in humans team study the genetic predisposition to coronary disease and myocardial infarction in European and South-Asian samples through collaborations with the CARDIOGENICS and BLOODOMICS international consortia.

WTCCC3 Renal transplant dysfunction

As part of WTCCC3, the team is working on a project studying the genetic basis of the interactions between donor and recipient DNA that determine early and late renal transplant dysfunction. A working hypothesis is that genetic interactions between donor and recipient genomes in the context of renal transplantation determine early and late renal allograft dysfunction and subsequent transplant failure.

* quick link - http://q.sanger.ac.uk/qtraits