Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011881 (diabetic nephropathy)
 10,836 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A point mutation in the N-acetyltransferase gene (NAT2) leads to the recessive trait for the slow acetylator phenotype, which is suggested to be associated with microalbuminuria in Type 1 diabetic patients. Our study was designed to elucidate whether the NAT2 gene polymorphism would be a marker for diabetic nephropathy. The genotype distribution was studied in Japanese Type 2 diabetic patients with established nephropathy (n = 43), with microalbuminuria (n = 24), with normoalbuminuria (n = 18), non-diabetic patients with kidney disease (n = 62), and healthy control subjects (n = 51). The different alleles of the NAT2 gene were identified by restriction fragment length polymorphism analysis: the gene was amplified from genomic DNA (obtained from blood) and digested with restriction enzymes. The genotype was classified by the specific pattern of each allele (M1, M2, M3) in the agarose electrophoresis and ethdium bromide fluorescence. Alleles M1, M2, and M3 of NAT2 gene were found in 42.4% of all subjects (40.0% in all diabetic patients and 44.2% in all non-diabetic controls). The prevalence of the genotype, encoding the slow acetylator phenotype, was 7.0% in diabetic patients with established diabetic nephropathy, 20.8% in microalbuminuric diabetic patients, 0% in normoalbuminuric diabetic patients, 6.5% in non-diabetic patients with kidney disease, and 7.8% in healthy control subjects. The differences in the prevalence were non-significant. The results suggest that the N-acetyltransferase gene polymorphism may not be a genetic risk marker for diabetic nephropathy in Japanese Type 2 diabetic patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The N-acetyltransferase (NAT) gene: an early risk marker for diabetic nephropathy in Japanese type 2 diabetic patients? 785 Oct 73

The N-acetyltransferase (NAT2) polymorphism has been suggested to be related to diabetic microvascular complications. To study the distribution of NAT2 genotypes in Caucasian type 1 diabetic patients with and without diabetic nephropathy, 214 adult type 1 diabetic patients and 53 healthy individuals were genotyped by polymerase chain reaction-restriction fragment length polymorphism. In addition, 75 young type 1 diabetic patients were genotyped, and 70 of them also phenotyped by caffeine. Of the adult patients, 83 had normal albumin excretion, 58 had microalbuminuria, and 73 had overt diabetic nephropathy. NAT2 allele frequencies were similarly distributed between the diabetic patients and healthy individuals: 0.29/0.2 5 (NAT2*4), 0.03/0.04 (NAT2*7B), 0.25/0.27 (NAT2*6A), and 0.43/0.44 (NAT2*5B), and within the diabetic subgroups. Because smoking is a known risk factor for diabetic nephropathy, nonsmoking and smoking patients were analysed separately. NAT2 allele frequencies differed significantly between the nonsmoking normoalbuminuric, microalbuminuric and nephropathic patients: 0.18/0.41/0.30 (NAT2*4), 0.04/0.00/0.02 (NAT2*7B), 0.35/0.18/0.17 (NAT2*6A), 0.43/0.41/0.50 (NAT2*5B), P = 0.013. In nonsmoking fast acetylators odds ratio for microalbuminuria and nephropathy was 3.1 (95% confidence interval 1.36-7.05), P = 0.007 by logistic regression. In smokers, a nonsignificant odds ratio was found [0.31 (95% confidence interval 0.08-1.2), P = 0.09]. Smoking is a strong confounding factor in relation to NAT2 analyses and diabetic nephropathy. According to our data, in nonsmoking type 1 diabetic patients fast NAT2 genotype implies an increased risk for diabetic nephropathy.
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PMID:N-acetyltransferase-2 polymorphism, smoking and type 1 diabetic nephropathy. 1059 43