carnosine.tv
Home › Research › McDonough 2009

The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans

McDonough CW, Hicks PJ, Lu L, et al.. Human Genetics, 2009; 126(2):265-275.

Observational studyHumans

Design
Observational study
Subjects
1025 African-American cases with type 2 diabetes-associated end-stage renal disease and 1064 non-diabetic non-nephropathy controls
What was measured
64 variants identified by sequencing CNDP1 and CNDP2; 12 SNPs and the D18S880 leucine repeat genotyped in cases and controls.

What the authors reported

Two SNPs (rs6566810 and rs4892247) and several two- and three-marker haplotypes in CNDP1 and CNDP2 were associated with diabetic end-stage renal disease (global empirical P from 0.0275 down to 1.5E-05). Risk haplotypes were most strongly associated in people who were not 5L-5L homozygous. The authors suggest the protection from 5L-5L homozygosity seen in Europeans may be masked in African-Americans by additional risk haplotypes.

Limits of this study

Case-control association study; no measurement of carnosine or enzyme activity. Abstract only.

Source

PubMed 19373489 · doi:10.1007/s00439-009-0667-0

Entry checked against PubMed abstract (E-utilities) on 2026-10-19. The dose shown is the dose the researchers used. It is not a recommendation. How to read this page.