| http://purl.uniprot.org/citations/19373489 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19373489 | http://www.w3.org/2000/01/rdf-schema#comment | "Four genome wide linkage scans for diabetic nephropathy have mapped susceptibility loci to chromosome 18q22.3-23 in the region of the carnosinase genes, CNDP1 and CNDP2. CNDP1 has been associated with diabetic nephropathy in Europeans and European Americans, but not African-Americans. Individuals homozygous for a five tri-nucleotide repeat allele (5L; D18S880) are protected from diabetic nephropathy. We identified 64 variants after sequencing the exons, promoter, and 3' UTR of CNDP1 and CNDP2 in African-American and European American DNA samples. After scanning 44 of these variants, extensive genotyping of 12 SNPs and D18S880 was performed in 1,025 African-American cases with type 2 diabetes (DM)-associated end-stage renal disease (ESRD) and 1,064 African-American non-diabetic non-nephropathy controls to assess whether the carnosinase genes influence risk for DM-ESRD in African-Americans. Evidence of association with DM-ESRD was seen with 2 SNPs: rs6566810 and rs4892247; 3 two-marker haplotypes: rs6566810 and rs17089362, rs17089362 and rs890336, and rs890334 and rs12717111 (global empirical P = 0.0034, 0.0275, and 0.0002, respectively) and 3 three-marker haplotypes: rs6566810, rs17089362, and rs890336; rs890335, rs890334, and rs12717111; and rs890334, rs12717111, and D18S880 (global empirical P = 0.0074, 1.5E-05, and 0.0032, respectively). The risk haplotypes (rs6566810, rs17089362 [A,T] and rs6566810, rs17089362, rs890336 [A,T,C]) were most strongly associated with DM-ESRD among African-Americans in the non 5L-5L group. Variants in the carnosinase genes appear to contribute to diabetic nephropathy susceptibility in African-Americans. Protection from diabetic nephropathy afforded by 5L-5L homozygosity in CNDP1 may be masked by the effects of additional risk haplotypes in CNDP1 and CNDP2."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-009-0667-0"xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/author | "Lu L."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/author | "Bowden D.W."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/author | "Freedman B.I."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/author | "Hicks P.J."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/author | "Langefeld C.D."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/author | "McDonough C.W."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/name | "Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/pages | "265-275"xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/title | "The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans."xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://purl.uniprot.org/core/volume | "126"xsd:string |
| http://purl.uniprot.org/citations/19373489 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19373489 |
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| http://purl.uniprot.org/uniprot/#_Q96KN2-mappedCitation-19373489 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19373489 |
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