PMID- 19183347
OWN - NLM
STAT- MEDLINE
DCOM- 20090318
LR  - 20221207
IS  - 1469-1809 (Electronic)
IS  - 0003-4800 (Print)
IS  - 0003-4800 (Linking)
VI  - 73
IP  - 2
DP  - 2009 Mar
TI  - Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy 
      in African Americans.
PG  - 152-9
LID - 10.1111/j.1469-1809.2008.00498.x [doi]
AB  - 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.
FAU - Leak, T S
AU  - Leak TS
AD  - Center for Human Genomics, Wake Forest University School of Medicine, 
      Winston-Salem, NC, USA.
FAU - Perlegas, P S
AU  - Perlegas PS
FAU - Smith, S G
AU  - Smith SG
FAU - Keene, K L
AU  - Keene KL
FAU - Hicks, P J
AU  - Hicks PJ
FAU - Langefeld, C D
AU  - Langefeld CD
FAU - Mychaleckyj, J C
AU  - Mychaleckyj JC
FAU - Rich, S S
AU  - Rich SS
FAU - Kirk, J K
AU  - Kirk JK
FAU - Freedman, B I
AU  - Freedman BI
FAU - Bowden, D W
AU  - Bowden DW
FAU - Sale, M M
AU  - Sale MM
LA  - eng
GR  - M01 RR007122-150269/RR/NCRR NIH HHS/United States
GR  - R01 DK066358-03/DK/NIDDK NIH HHS/United States
GR  - DK 066358/DK/NIDDK NIH HHS/United States
GR  - R01 DK066358-02/DK/NIDDK NIH HHS/United States
GR  - R01 DK066358-02S1/DK/NIDDK NIH HHS/United States
GR  - DK 072550/DK/NIDDK NIH HHS/United States
GR  - R01 DK070941/DK/NIDDK NIH HHS/United States
GR  - F31 DK072550/DK/NIDDK NIH HHS/United States
GR  - R01 DK066358-01/DK/NIDDK NIH HHS/United States
GR  - R01 DK066358/DK/NIDDK NIH HHS/United States
GR  - M01 RR007122/RR/NCRR NIH HHS/United States
GR  - M01 RR 07122/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20090123
PL  - England
TA  - Ann Hum Genet
JT  - Annals of human genetics
JID - 0416661
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (ELMO1 protein, human)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing/*genetics
MH  - Black or African American/*genetics
MH  - Aged
MH  - Diabetes Mellitus, Type 2/complications
MH  - Diabetic Nephropathies/*ethnology/*genetics
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Introns
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
PMC - PMC2778056
MID - NIHMS85350
EDAT- 2009/02/03 09:00
MHDA- 2009/03/19 09:00
PMCR- 2010/03/01
CRDT- 2009/02/03 09:00
PHST- 2009/02/03 09:00 [entrez]
PHST- 2009/02/03 09:00 [pubmed]
PHST- 2009/03/19 09:00 [medline]
PHST- 2010/03/01 00:00 [pmc-release]
AID - AHG498 [pii]
AID - 10.1111/j.1469-1809.2008.00498.x [doi]
PST - ppublish
SO  - Ann Hum Genet. 2009 Mar;73(2):152-9. doi: 10.1111/j.1469-1809.2008.00498.x. Epub 
      2009 Jan 23.