[Association of RNASET2 gene polymorphisms and haplotypes with Graves disease in Han Chinese population from coastal regions of Shandong].

OBJECTIVE: To assess the association of RNASET2 gene polymorphisms and haplotypes with Graves disease (GD) in Han Chinese population from coastal regions of Shandong Province. METHODS: A total of 471 GD patients and 472 controls were enrolled. Genotypes of single nucleotide polymorphisms (SNPs) in RNASET2 gene were determined with a Taqman probe on a Fluidigm EPl platform. Haplotypes and their frequencies were analyzed with a SHEsis online software. RESULTS: There was a significant difference in allele frequencies of rs3777722, rs3777723 and rs9355610 between the GD patients and the controls (P=0.018; P=0.028; P=0.021).Allele frequencies of rs3777722 and rs9355610 were significantly lower in GD than in the controls (P=0.018, P=0.021). Haplotypes A-A-C-A and A-A-T-A were significantly more common in the control group compared with the GD group (P=0.046, OR=0.448, 95%CI:0.200-1.006; P=0.049, OR=0.823, 95%CI:0.678-0.999). The frequency of C-G-C-G haplotype was significantly higher in GD patient group than the control group (P=0.018). CONCLUSION: RNASET2 gene polymorphisms and haplotypes are associated with GD in Han population from coastal areas of Shandong Province. rs3777722 and rs9355610 may contribute to the risk for GD.

[The association between single-nucleotide polymorphisms of hURAT1 and hyperuricemia in Han Chinese].

OBJECTIVE: To study the association between hURAT1 gene single nucleotide polymorphism (SNP) and primary hyperuricemia (HUA). METHODS: A total of 215 patients with HUA and 323 healthy subjects were chosen to investigate SNP of hURAT1. Exon 2 to 4 and flanking introns of the hURAT1 gene in patients and control individuals were screened with PCR. The relationship between SNP of hURAT1 gene with HUA was studied with statistical analysis. RESULTS: The frequency of AA/AG genotype was significantly increased in HUA patients as compared with that in healthy controls (11.6% vs 3.7%, P = 3.81 × 10(-4)). Allele A of hURAT1 intron 3, 11 G > A was found significantly higher in the group of HUA patients, being detected in 6.0% of the HUA patients alleles and in 1.9% of the healthy control alleles (P = 2.66 × 10(-5)). Those carrying the low frequency AA/AG genotype had a risk effect on the morbidity of HUA and the odds ratio for the HUA patients versus controls was 3.41 with AA/AG genotype versus GG genotype (OR = 3.41, 95%CI = 1.67 - 6.95). The HT4 haplotype, which carried the intron 3, 11A allele, was associated with a significantly increased risk of HUA (69.44% vs 30.56%, P < 0.001). CONCLUSION: The SNP of 11G > A in the intron 3 of hURAT1 gene was apparently associated with HUA, thus suggesting the genetic effect of hURAT1 gene in the pathogenesis of HUA.

[Changes of the concentration of serum ischemia modified albumin and high sensitivity C-reactive protein in type 2 diabetic patients with retinopathy].

OBJECTIVE: To explore the changes of the concentration of serum ischemia modified albumin (IMA) and high sensitivity C-reactive protein (hs-CRP) in type 2 diabetic patients with retinopathy (DR). METHODS: The concentration of serum IMA and hs-CRP in DR patients were determined by ELISA and rate nephelometry and compared with those in 83 no-DR (NDR) patients and 72 controls. The concentration of serum IMA and hs-CRP in 40 proliferative diabetic retinopathy (PDR) patients were compared with those in 39 no-PDR (NPDR) patients. Data was evaluated using analysis of PPMS version 1.5.Results are expressed as means + or - standard deviation of the mean. Statistical comparisons were performed by student's t-test or one-way analysis of variance followed by Dunnett's multiple comparison test and the means compared each other using q test. RESULTS: The serum IMA and hs-CRP concentration in DR patients were (46.51 + or - 13.29) microg/L, (4.27 + or - 2.24) mg/L. The serum IMA and hs-CRP concentration in NDR patients were (25.47 + or - 9.33) microg/L, (2.96 + or - 1.84) mg/L. The serum IMA and hs-CRP concentration in controls were (15.36 + or - 4.27) microg/L, (1.86 + or - 0.97) mg/L. The serum IMA and hs-CRP concentration in PDR patients were (54.72 + or - 15.61) microg/L, (6.34 + or - 3.53) mg/L. The serum IMA and hs-CRP concentration in NPDR patients were (38.35 + or - 11.27) microg/L, (3.28 + or - 1.77) mg/L. The serum IMA and hs-CRP concentration were significantly higher in DR patients than those in controls and NDR patients, the serum IMA and hs-CRP concentration in NDR patients were significantly higher than those in controls (F = 197.124, 34.561;q = 5.41-27.34; P < 0.01); the serum IMA and hs-CRP concentration were significantly higher in PDR patients than those in NPDR patients (t = 5.46, 4.89; P < 0.01); there was significant positive correlation between serum IMA concentration and hs-CRP concentration in DR patients (r = 0.617, P < 0.01). CONCLUSION: The serum IMA and hs-CRP concentration were significantly high in DR patients, and were positively associated with the seriousness of DR, which may contribute to the development of DR.