ABSTRACT
ObjectiveTo analyze the association of human urate transporter 1 ( hURAT1 ) gene promoter single-nucleotide polymorphisms(SNPs) with primary hyperuricemia ( HUA ) in Chinese Han people.MethodsA total of 215 patients with HUA and 323 healthy subjects were chosen to be investigated of SNP of hURAT1 promoter by PCR and sequencing.ResultsFive SNPs were identified,including-454A/T,-434T/C,-382C/T,-87C/T,and + 118G/A.Pairwise linkage disequilibrium analysis displayed a high linkage disequilibrium between the five SNPs ( r2 =0.99).In HUA group,the heterozygous genotypos ( AT,CT,CT,CT,AG ) frequencies were significantly lower than those in control group ( P＜0.05 ).Logistic regression analysis showed that the heterozygosis genotypes ( AT,CT,CT,CT,AG) were protective factors of HUA ( OR 0.68-0.75 ).The minor allele ( T,C,T,T,A ) frequencies for both SNPs were significantly different between two groups ( P =0.022,P =0.038 ).ConclusionThese findings indicate that -454A/T,-434T/C,-382C/T,-87C/T,and + 118G/A SNPs of hURAT1 gene promoter area are associated with HUA in Chinese Han population.
ABSTRACT
Objective: To investigate the association between polymorphisms of the C-106T at promotor region of aldose reductase (AR) gene in chromosome 7q35 and nephropathy with type 2 diabetes in people of Han nationality in North China. Methods: A case-control study in 202 Chinese subjects (including 139 type 2 diabetes mellitus with or without nephropathy and 63 norma1 control) was performed. The genotypes and alleles of polymorphisms of C-106T at promotor region of AR gene were determined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method with 4% agarose gel electrophoresis. The results were validated by sequencing the PCR products. Results: The frequency of the T allele and CT+TT genotypes at promotor region of AR gene was significantly higher in DN+ group than that in DN-group and control (CON) group (P0.05). Conclusion: The T allele and CT/TT genotypes at promotor region of AR gene may related to nephropathy with type 2 diabetes in people of Han nationality in North China.