Association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene with primary hyperuricemia in Chinese Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene SLC22A12 with primary hyperuricemia (HUA) in Chinese Han population.</p><p><b>METHODS</b>Genomic DNA from 215 individuals with HUA and 323 controls was extracted. The exon 8 and intron 8 of the SLC22A12 gene was amplified by polymerase chain reaction (PCR). PCR product was sequenced directly. Single nucleotide polymorphisms (SNPs) were detected and the association of the SNPs with primary HUA was assessed.</p><p><b>RESULTS</b>(1) Two SNPs were identified, they were T1309C located in exon 8 (rs7932775) and -103A to G located in intron 8. Pairwise linkage disequilibrium analysis displayed an absolute linkage disequilibrium between the two SNPs (D'= 1). (2) The minor allele frequencies for both SNPs were 51.9% in HUA patients, which were significantly different from that of controls (42.4%)(P< 0.01). (3) The genotype frequencies of GG+ GA and CC+ CT in HUA patients were significantly higher than that in controls (80.0% vs. 69.0%, P< 0.01). (4) Individuals of both GG+ GA and CC+ CT genotypes had 1.79 fold increase of HUA risk (OR= 1.794, 95%CI: 1.19-2.70).</p><p><b>CONCLUSION</b>These findings indicated that T1309C and -103A to G polymorphisms of the SLC22A12 gene were associated with primary HUA in Chinese Han population.</p>

Research Progress of microRNAs and human hematological diseases - review / 中国实验血液学杂志

The microRNAs (miRNAs) are an evolutionarily conserved class of 22 nucleotide (19 - 25 nt) non-coding RNAs. The miRNAs are partially complementary to 3' untranslated region of target mRNA, resulting in the repression of gene expression at post-transcriptional level. The miRNAs have been associated with diverse biological processes. This review summarizes recent progress of research on the characteristics and function of miRNAs, and the role of miRNAs in hematological malignancy development.

Epidemiological survey of hyperuricemia and gout in coastal areas of Shandong Province / 中华内分泌代谢杂志

Objective To determine the prevalences and risk factors of hyperuricemia(HUA)and gout among residents aged≥20 years in Shandong coastal areas.Methods A random stratified cluster sampling was conducted,and 5003 inhabitants were investigated for prevalences of HUA and gout in Qingdao,Yantai,Weihai, Rizhao and Dongying.Results (1)The prevalence of HUA was 13.19%,after standardization according to the Shandong population in 2000,standardized rate was 13.27%,in which the prevalence in males was 18.32% and females 8.56%.The prevalence of gout was 1.14% and the standardized rate was 1.10%,in which the prevalence in males was 1.94% and females 0.42%;(2)Serum uric acid was(343.4?84.5)?mol/L in normal males and (258.9?70.9)?mol/L in normal females.Serum uric acid was(469.4?48.1)?mol/L in males with HUA and (399.7?104.9)?mol/L in females with HUA.In gout group,serum uric acid in males and females was respectively(502.4?106.8)?mol/L and(403.5?52.7)?mol/L;(3)The prevalence of gout in patients with HUA was 8.64%;(4)Non-conditional logistic regression analysis showed that frequency and quantity of alcohol intake were independent risk factors for males in the HUA group,while HDL-C and farming were protective factors. As for females,age and hypertension were independent risk factors of HUA.Similarly,HDL-C was a protective factor;(5)In HUA patients,65% had hypertension,53% hyperlipidemia,30% glucose metabolic disorder,48% overweight and 10% obesity.In gout patients,57% had hypertension,61% hyperlipidemia,20% glucose metabolic disorder,56% overweight and 7% obesity.Conclusion The prevalences of HUA and gout are significantly increased in Shandong coastal areas in recent years.Restricting the intake of sea foods rich in purine such as seashell,reducing the intake of alcohol especially beer,reducing body weight and abdominal obesity, correcting lipid metabolic disorder and controlling hypertension are important measures in preventing and treating hyperuricemia and gout.

Role of various concentrations of glucose and insulin on expression of transforming growth factor-?_1 in HK2 cells / 中华内分泌代谢杂志

HK-2 cells were cultured with various concentrations of glucose and insulin for 12,24,48,72 h.Transforming growth factor-?_1(TGF-?_1) protein in supematant was measured by ELISA,while TGF-?_1 mRNA expression was assessed by RT-PCR.Data showed that high concentration of glucose and insulin up-regulated the expression of TGF-?_1 in HK-2 cells through different pathways.

Implication of Increased serum uric acid level In patients with acute coronary artery syndrome / 中华内分泌代谢杂志

Acute coronary artery syndrome (ACS) was confirmed by coronary arteriography in 398 patients,and 378 healthy persons served as the control group.Serum uric acid in ACS and control group showed normal distribution,and serum uric acid level in ACS group (322?107 )?mol/L was significantly higher than those in control group (302?77)?mol/L (P＜0.01 ).The prevalence of hyperuricemia (HUA) was 27.0% in male patients and 25.2% in female.Systolic blood pressure,diastolic blood pressure,fasting plasma glucose,total cholesterol,triglycerides,creatinine and blood urea nitrogen in ACS group were higher than those in control group (all P＜0.01 ).Muhivariable analyses adjusted for age and sex indicated that raised fasting plasma glucose,total cholesterol,uric acid and mean arterial pressure were risk factors for coronary artery stenosis in ACS,and HUA played a role in the pathogenesis of ACS.

Chromosomal localization of primary gout susceptibility gene in a Chinese pedigree / 中华内分泌代谢杂志

Objective To determine chromosomal localization of the primary gout susceptibility gene in a pedigree.Methods The clinical data and the peripheral blood samples were collected in the pedigree members and the genomic DNA was extracted from peripheral blood.A genome-wide screening was performed using 400 micro-satellite DNA markers in this family,and linkage analysis was used to determine the chromosomal location of the primary gout susceptibility gene.Results Linkage analysis showed that the maximum LOD score reached 1.50 at marker D4S1572 (at recombination fraction?=0.00).Conclusion Since D4S1572 is localized at 4q25,the primary gout susceptibility gene of this pedigree is localized at 4q25.