Relationship between carnosinase gene CNDP1 leucine repeat polymorphism and the clinical outcome of Chinese PD patients.
BACKGROUND
pre-clinical studies showed that carnosine may have a beneficial cardiovascular effect. We studied the effect of tri-nucleotide repeat (CTGs) polymorphisms in exon 2 of the CNDP1 gene, which codes for carnosinase and is responsible for the degradation of carnosine, on the clinical outcome of Chinese peritoneal dialysis (PD) patients.


METHODS
we studied 442 PD subjects. Genotyping was done by direct sequencing of genomic DNA. Patients were followed for 43.5 ± 16.2 months.


RESULTS
the prevalence of 6-6, 5-6, 5-5 and 4-6 CTGs genotypes was 80.3%, 18.6%, 0.9% and 0.2%, respectively. A total of 270 patients (61.1%) developed the primary composite end point during follow-up. The 5-year event-free survival of the 6-6 CTGs and non 6-6 group was 37.1% and 21.3%, respectively (log rank test, p = 0.3).


CONCLUSIONS
the CTGs polymorphism of the CNDP1 gene does not affect survival of Chinese PD subjects. The role of carnosine and CNDP1 gene polymorphism in the pathogenesis of cardiovascular disease requires further study.
Poon
P Y-K
PY
Departments of Medicine & Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong, China.
Szeto
C-C
CC
Kwan
B C-H
BC
Chow
K-M
KM
Li
P K-T
PK
D000704:Analysis of Variance; D044466:Asian People / Q000235:genetics*; D016009:Chi-Square Distribution; D002681:China; D004150:Dipeptidases / Q000235:genetics*; D018572:Disease-Free Survival; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D053208:Kaplan-Meier Estimate; D007930:Leucine; D010530:Peritoneal Dialysis / Q000009:adverse effects / Q000401:mortality; D010641:Phenotype; D011110:Polymorphism, Genetic; D051437:Renal Insufficiency / Q000201:enzymology / Q000208:ethnology / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D018570:Risk Assessment; D012307:Risk Factors; D013997:Time Factors; D016896:Treatment Outcome; D018911:Trinucleotide Repeats
C522928:CNDP1 protein, human; D004150:Dipeptidases; D007930:Leucine