Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in African Americans

Ann Hum Genet. 2009 Mar;73(2):152-9. doi: 10.1111/j.1469-1809.2008.00498.x. Epub 2009 Jan 23.


Variants in the engulfment and cell motility 1 (ELMO1) gene are associated with nephropathy due to type 2 diabetes mellitus (T2DM) in a Japanese cohort. We comprehensively evaluated this gene in African American (AA) T2DM patients with end-stage renal disease (ESRD). Three hundred and nine HapMap tagging SNPs and 9 reportedly associated SNPs were genotyped in 577 AA T2DM-ESRD patients and 596 AA non-diabetic controls, plus 43 non-diabetic European American controls and 45 Yoruba Nigerian samples for admixture adjustment. Replication analyses were conducted in 558 AA with T2DM-ESRD and 564 controls without diabetes. Extension analyses included 328 AA with T2DM lacking nephropathy and 326 with non-diabetic ESRD. The original and replication analyses confirmed association with four SNPs in intron 13 (permutation p-values for combined analyses = 0.001-0.003), one in intron 1 (P = 0.004) and one in intron 5 (P = 0.002) with T2DM-associated ESRD. In a subsequent combined analysis of all 1,135 T2DM-ESRD cases and 1,160 controls, an additional 7 intron 13 SNPs produced evidence of association (P = 3.5 x 10(-5)- P = 0.05). No associations were seen with these SNPs in those with T2DM lacking nephropathy or with ESRD due to non-diabetic causes. Variants in intron 13 of the ELMO1 gene appear to confer risk for diabetic nephropathy in AA.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • African Americans / genetics*
  • Aged
  • Diabetes Mellitus, Type 2 / complications
  • Diabetic Nephropathies / ethnology*
  • Diabetic Nephropathies / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Introns
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide


  • Adaptor Proteins, Signal Transducing
  • ELMO1 protein, human