Imperial College London
Alternate

Dr Toby Andrew

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Senior Lecturer
 
 
 
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Contact

 

+44 (0)20 7594 0968t.andrew

 
 
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Location

 

ICTEM 526ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Direk:2014:10.1111/ahg.12072,
author = {Direk, K and Lau, W and Small, KS and Maniatis, N and Andrew, T},
doi = {10.1111/ahg.12072},
journal = {Annals of Human Genetics},
pages = {333--344},
title = {ABCC5 Transporter is a Novel Type 2 Diabetes Susceptibility Gene in European and African American Populations},
url = {http://dx.doi.org/10.1111/ahg.12072},
volume = {78},
year = {2014}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Numerous functional studies have implicated PARL in relation to type 2 diabetes (T2D). We hypothesised that conflicting human association studies may be due to neighbouring causal variants being in linkage disequilibrium (LD) with PARL. We conducted a comprehensive candidate gene study of the extended LD genomic region that includes PARL and transporter ABCC5 using three data sets (two European and one African American), in relation to healthy glycaemic variation, visceral fat accumulation and T2D disease.We observed no evidence for previously reported T2D association with Val262Leu or PARL using array and fine-map genomic and expression data. By contrast, we observed strong evidence of T2D association with ABCC5 (intron 26) for European and African American samples (P = 3E−07) and with ABCC5 adipose expression in Europeans [odds ratio (OR) = 3.8, P = 2E−04]. The genomic location estimate for the ABCC5 functional variant, associated with all phenotypes and expression data (P = 1E−11), was identical for all samples (at Chr3q 185,136 kb B36), indicating that the risk variant is an expression quantitative trait locus (eQTL) with increased expression conferring risk of disease. That the association with T2D is observed in populations of disparate ancestry suggests the variant is a ubiquitous risk factor for T2D.
AU  - Direk,K
AU  - Lau,W
AU  - Small,KS
AU  - Maniatis,N
AU  - Andrew,T
DO  - 10.1111/ahg.12072
EP  - 344
PY  - 2014///
SP  - 333
TI  - ABCC5 Transporter is a Novel Type 2 Diabetes Susceptibility Gene in European and African American Populations
T2  - Annals of Human Genetics
UR  - http://dx.doi.org/10.1111/ahg.12072
UR  - http://onlinelibrary.wiley.com/doi/10.1111/ahg.12072/abstract
UR  - http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1469-1809
UR  - http://hdl.handle.net/10044/1/15438
VL  - 78
ER  -
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