Investigation of DNA polymorphisms in SMAD genes for genetic predisposition to diabetic nephropathy in patients with type 1 diabetes mellitus

@article{McKnight2009InvestigationOD,
  title={Investigation of DNA polymorphisms in SMAD genes for genetic predisposition to diabetic nephropathy in patients with type 1 diabetes mellitus},
  author={Amy-Jayne McKnight and Alistair Woodman and Maija Parkkonen and Christopher C. Patterson and David A. Savage and Carol Forsblom and Kerry A. Pettigrew and Denise M. Sadlier and P. H. Groop and Alexander Peter Maxwell},
  journal={Diabetologia},
  year={2009},
  volume={52},
  pages={844-849}
}
SMAD proteins are involved in multiple signalling pathways and are key modulators of gene expression. We hypothesised that genetic variation in selected SMAD genes contributes to susceptibility to diabetic nephropathy. We selected 13 haplotype tag (ht) single nucleotide polymorphisms (SNPs) from 67 variants identified by resequencing the SMAD2 and SMAD3 genes. For SMAD1, SMAD4 and SMAD5 genes, genotype data were downloaded for 217 SNPs from Phase II of the International HapMap project. Of these… CONTINUE READING

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