ABSTRACT
Objective To explore the relationship between the polymorphisms of the primary gout predisposing gene (BCAS3) rs11653176 locus and the incidence of gout in Han Chinese men in coastal areas of Shandong Province. Methods One hundred and fifty-two cases of patients with gout remission,68 cases of acute stage,252 patients with hyperuricemia, and 280 healthy subjects, total males, were enrolled. Genotyping the rs11653176 locus of BCAS3 gene by TaqMan probe technique. The expression level of BCAS3 gene mRNA in each PBMC was measured by RT-qPCR. The levels of tumor necrosis factor-α(TNF-α), interleukin-6(IL-6), and interleukin-18(IL-18)in serum were measured by ELISA. Results The change of allele frequency of rs11653176 locus in BCAS3 gene was associated with gout(P<0.01). BCAS3 mRNA in patients with gout was significantly higher than that of healthy people and patients with hyperuricemia(P<0.01). In gout patients, the expression level of BCAS3 gene containing C allele was higher than that of T allele(mRNA,P<0.05). The inflammatory factors in the acute phase of gout were significantly higher than those in phases of remission and hyperuricemia(P<0. 01). Conclusion Changes in the allele frequency of BCAS3 alleles rs11653176(high C, low T)may contribute to the expression of this gene,and lead to gout. And the onset of gout is closely related to the production of inflammatory factors.
ABSTRACT
BACKGROUND:The studies regarding reference values of fraction excretion of uric acid(FEUA)is poorly understood.OBJECTIVE:To establish reference values of FEUA in healthy adults in Qingdao area.DESIGN,TIME AND SETTING:The investigation and analysis was performed at the Qingdao Medical College from August 2007 to August 2008.PARTICIPANTS:A total of 581 healthy adults with aged 20-70 years,including 279 male and 302 female stayed in Qingdao more than 5 years were selected from August 2007 to August 2008.The adults were divided into groups according to the ages.There were 61 adults in the group aged 21-30 years(32 male and 29 female);92 adults in the group aged 31-40 years(40 male and 52 female);173 adults in the group aged 41-50 years(82 male and 91 female);169 adults in the group aged 51-60 years(88 male and 81 female);and 86 adults aged more than 60-year-old(37 male and 49 female).METHODS:The uric acid and creatinine of fasting blood and 12 h urine taken and tested with Sysmex chemix-180 to calculate FEUA,the results were statistically analyzed by SPSS 16.0 software.MAIN OUTCOME MEASURES:①Comparison of general information and biochemical index.②Comparison of serum uric acid,FEUA in sexes and reference values of FEUA.③Comparison of serum uric acid,FEUA in different age groups.RESULTS:Serum uric acid in male was higher,but FEUA was lower than that of female,there were significant difference between different genders(P 0.05).The normal range of FEUA in female and male was 4.039%-10.613% and 3.447%-9.915%,respectively.CONCLUSION:The reference value of FEUA in healthy adults in Qingdao is preliminarily established.To provide evidence for hyperuricemia control and prevention,it is necessary to establish respective reference values of FEUA and prompting the excretion of uric acid for healthy male and female.
ABSTRACT
BACKGROUND: It has been demonstrated that the C-106T polymorphism at promotor region of aldose reductase gene and GLU298ASP (894G→T) polymorphism at exon 7 of endothelial nitric oxide synthase (eNOS) gene are associated with diabetic nephropathy, it should be further studied wnether the risk for diabetic nephropathy will increase when the above polymorphic sites coexist.OBJECTIVE: To investigate the association between the coexistence of the polymorphisms of both the C-106T at promotor region of aldose reductase gene and GLU298ASP (894G→T) at axon 7 of eNOS gene in chromosome 7q35 region and the genesis of diabetic nephropathy in northern Chinese Hah people.DESIGN: A case-controlled, comparative observation.SETTING: Department of Endocrinology, the Affiliated Hospital of Medical College, Qingdao University.PARTTCIPANTS; Totally 139 inpatients with type 2 diabetes mellitus were selected from the Department of Endocrinology, the Affiliated Hospital of Medical College, Qingdao University from November 2002 to April 2005,including 54 males and 85 females, (64±8) years of age. Inclusive criteria: Accorded with the standards of diabetic diagnosis and classification by WHO in 1999. According to the 24-hour urinary albumin excretion rate (UAER), they were divided into diabetic nephropathy group (n =61) and non-diabetic nephropathy group (n =78). Meanwhile, 63 healthy controls were selected as the control group, including 24 males and 39 females, 50-78 years of age. All the enrolled subjects were Han people. Informed contents were obtained from all the subjects.METHODS: The genotypes and alleles of polymorphisms of GLU298ASP(894G→T) at exon 7 of eNOS gene and C-106T at promotor region of aldose reductase gene were detected by polymerase chain reaction restriction-fragment length polymorphism technique (PCR-RFLP), DNA sequencing technique and agarose gel electrophoresis separation technique.Then the frequency of genotypes and alleles were compared.MAIN OUTCOME MEASURES: ① Polymorphisms of eNOS gene and aldose reductase gene; ② Results of the multivariant stepwise regression analysis of risk factors for diabetic nephropathy; ③ Polymorphisms of aldose reductase C-106T and eNOS 894G→T and the relative risk of diabetic nephropathy.RESULTS: All the 139 patients with type 2 diabetes mellitus and 63 healthy adults were involved in the analysis of results. ① The frequencies of the T allele and TG genotype at exon 7 894G→T polymorphic site of eNOS gene in the diabetic nephropathy group were significantly higher than those in the non-diabetic nephropathy group and control group (χ2=8.261, 19.629, P ＜ 0.05). ② The frequencies of the T allele and CT genotype at promotor region of aldose reductase gene in the diabetic nephropathy group were significantly higher than those in the non-diabetic nephropathy group and control group (χ2=6.343, 8.940, P ＜ 0.05, 0.01). ③ After associated analysis on the above gene polymorphisms, it was found that the frequency of TG/CT genotype in the diabetic nephropathy group were significantly higher than that in the non-diabetic nephropathy group and control group (χ2=6.972, P ＜ 0.01); whereas the frequency of GG/CC genotype was significantly lower than that in the non-diabetic nephropathy group and control group (χ2=13.304, P ＜ 0.05). ④Glycosylated hemoglobin (GHbA1c), systolic blood pressure, total cholesterol, polymorphisms of 894G→T at exon 7 of eNOS gene and C-106T at promotor region of aldose reductase gene were all the independent risk factors for diabetic nephropathy (Wald =5.627, 4.92, P ＜ 0.05). ⑤ GG/GC genotype might be the protective genotype for diabetic nephropathy (OR=0.25, P ＜ 0.01); The risk for diabetic nephropathy in the carrier of GG/CT or TG/CC genotype increased by 2.3 times and risk for diabetic nephropathy in the carrier of TG/CT genotype increased by 4.8 times.CONCLUSION: The coexistence of polymorphisms of 894G→T at exon 7 of eNOS gene and C-106T at promotor region of aldose reductase gene can increase the risk of diabetic nephropathy in patients with type 2 diabetes mellitus. And the TG/CT haplotype formed by the coexistence of polymorphism of these two genes is probably the predisposing genotype for diabetic nephropathy.