Abstract | OBJECTIVE: RESEARCH DESIGN AND METHODS: Forty-nine single nucleotide polymorphisms (SNPs) located in the coding and flanking regions of ENPP1 were genotyped in 577 African-American individuals with type 2 diabetic ESRD and 596 African-American control subjects. Haplotypic association and genotypic association for the dominant, additive, and recessive models were tested by calculating a chi(2) statistic and corresponding P value. RESULTS: Nine SNPs showed nominal evidence for association (P < 0.05) with type 2 diabetic ESRD in one or more genotypic model. The most significant associations were observed with rs7754586 (P = 0.003 dominant model, P = 0.0005 additive, and P = 0.007 recessive), located in the 3' untranslated region, and an intron 24 SNP (rs1974201: P = 0.004 dominant, P = 0.0005 additive, and P = 0.005 recessive). However, the extensively studied K121Q variant (rs1044498) did not reveal evidence for association with type 2 diabetic ESRD in this African-American population. CONCLUSIONS: This study was the first to comprehensively evaluate variants of the ENPP1 gene for association in an African-American population with type 2 diabetes and ESRD and suggests that variants in the distal region of the ENPP1 gene may contribute to diabetes or diabetic nephropathy susceptibility in African Americans.
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Authors | Keith L Keene, Josyf C Mychaleckyj, Shelly G Smith, Tennille S Leak, Peter S Perlegas, Carl D Langefeld, Barry I Freedman, Stephen S Rich, Donald W Bowden, Michèle M Sale |
Journal | Diabetes
(Diabetes)
Vol. 57
Issue 4
Pg. 1057-62
(Apr 2008)
ISSN: 1939-327X [Electronic] United States |
PMID | 18184924
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- Phosphoric Diester Hydrolases
- ectonucleotide pyrophosphatase phosphodiesterase 1
- Pyrophosphatases
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Topics |
- Age of Onset
- Aged
- Black People
(genetics)
- Chromosome Mapping
- Chromosomes, Human, Pair 6
- Diabetes Mellitus, Type 2
(genetics)
- Diabetic Nephropathies
(epidemiology, genetics)
- Female
- Genes, Dominant
- Genes, Recessive
- Genetic Predisposition to Disease
- Genetic Variation
- Humans
- Kidney Failure, Chronic
(epidemiology, genetics)
- Male
- Middle Aged
- Models, Genetic
- Phosphoric Diester Hydrolases
(genetics)
- Polymorphism, Single Nucleotide
- Pyrophosphatases
(genetics)
- Reference Values
- White People
(genetics)
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