OBJECTIVETo investigate the relation between endothelial nitric oxide synthase (eNOS) gene polymorphism and IgA nephropathy (IgAN).

METHODSThe variable number of tandem repeats (VNTR) polymorphism of eNOS gene was analyzed with PCR in 296 Chinese Han patients with IgAN groups and 310 healthy Han subjects from Beijing, Tianjin and Hebei Province, and the gene frequency and allele frequency were compared between the two groups.

RESULTSIn these Chinese Han subjects involved in this study, VNTR of eNOS gene showed 3 genetypes, namely eNOS4a, eNOS4b and eNOS4a/4b. No significant difference was found in the gene frequency between IgAN group and the healthy subjects.

CONCLUSIONSIgAN is not associated with VNTR polymorphism of eNOS gene, and no sufficient evidence has been obtained to establish the relation of eNOS VNTR polymorphism with the genetic factors of IgAN. The role of eNOS gene polymorphism in IgAN can be heterogeneous in regard to different races or areas.

Adolescent ; Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; China ; Female ; Gene Frequency ; Genotype ; Glomerulonephritis, IGA ; ethnology ; genetics ; Humans ; Male ; Middle Aged ; Minisatellite Repeats ; genetics ; Molecular Sequence Data ; Nitric Oxide Synthase Type III ; genetics ; Polymorphism, Genetic

We determined the relationship between the progression of immunoglobulin A nephropathy (IgAN) and the A1818T polymorphism in intron 2 of Angiotensin II type 2 receptor (AT2R) gene, which might play protective roles in the pathogenesis of IgAN. Patients with biopsy-proven IgAN were recruited from the registry of the Progressive REnal disease and Medical Informatics and gEnomics Research (PREMIER) which was sponsored by the Korean Society of Nephrology. A1818T polymorphism of AT2R gene was analyzed with PCR-RFLP method and the association with the progression of IgAN, which was defined as over 50% increase in baseline serum creatinine level, was analyzed with survival analysis. Among the 480 patients followed for more than 10 months, the group without T allele had significantly higher rates of progression of IgAN than the group with T allele (11.4% vs. 3.9%, p=0.024), although there were no significant differences in the baseline variables such as initial serum creatinine level, the degree of proteinuria, and blood pressure. In the Cox's proportional hazard model, the hazard ratio of disease progression in the patients with T allele was 0.221 (95% confidence interval for Exp(B): 0.052-0.940, p=0.041) compared to that of without T allele. In conclusion, A1818T polymorphism of AT2R gene was associated with the progression of IgAN.
Alleles ; Creatinine/blood ; Disease Progression ; Genotype ; Glomerulonephritis, IGA/ethnology/*genetics ; Humans ; Korea ; Models, Genetic ; Models, Statistical ; *Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; *Polymorphism, Single Nucleotide ; Receptor, Angiotensin, Type 2/*genetics ; Time Factors ; Treatment Outcome