Association between SLC2A9 Genetic Variants and Risk of Hyperuricemia in a Uygur Population.

EN: Summary]This study aimed to test the effects of five single nucleotide polymorphisms within SLC2A9 on uric acid level in a special ethnic population, the Uygurs in Xinjiang, China. According to our inclusion and exclusion criteria, Uygur adults from Xinjiang constituted the study population. There were 1053 Uygur adults with hyperuricemia and 1373 normal Uygur adults who served as controls. Five single nucleotide polymorphisms within SLC2A9 (rs938557, rs7679916, rs7349721, rs13101785, and rs13137343) were selected with the HapMap dataset and TaqMan assays. We found that, in normouricemia group, rs938557 was significantly correlated with uric acid (ß=11.39±3.74, P=0.0024) adjusting for age, gender and BMI; rs7679916 and rs13137343 were marginally associated with uric acid concentration (ß=5.77±3.09, P=0.0626; ß= 5.99±3.08, P=0.0520). In the hyperuricemia group, no SNP was found to possibly influence uric acid concentration. None of these SNPs showed significant association with hyperuricemia after controlling for age, gender and BMI. There were significant or marginal correlations between certain single nucleotide polymorphisms in the SLC2A9 region and uric acid concentration in Uygur normouricemia samples. In turn, some of these single nucleotide polymorphisms in SLC2A9 may increase the risk of hyperuricemia.

Genetic polymorphisms of 21 autosomal STR loci in Chinese Uygur ethnic population.

Genetic polymorphisms of 21 short tandem repeat (STR) loci were studied in 576 unrelated Uygur individuals living in Urumqi using Goldeneye™ DNA ID 22NC system. Population data of all loci, except one locus (D1S1656), had no significant deviation from Hardy-Weinberg equilibrium. A high degree of genetic polymorphisms was showed by all STR loci in Urumchi Uygur population. The combined power of discrimination (CPD) was 0.999999999999999999999999985256 and the combined power of exclusion (CPE) was 0.999999997207836. In addition, we performed comparisons between the data from Uygur population with previously published data obtained from other populations.

Population data for 22 autosomal STR loci in the Uygur ethnic minority.

Allele frequencies and forensically relevant population statistics parameter of 22 short tandem repeat (STR) loci were determined from 525 unrelated Uygur ethnic individuals. The samples were amplified with Microreader™ 23sp ID system. No significant deviation from Hardy-Weinberg equilibrium was detected, except for loci D7S3048, D21S1270, and D13S325. Investigated loci are very discriminating in Uygur ethnic population, with a combined discrimination power of 0.999999999999999999999999999920743. Furthermore, a comparison with previously published frequency data from Han population is presented.

Validity and reliability of the Uighur version of Chinese Soldier Personality Questionnaire / 中国心理卫生杂志

Objective:To test the validity and reliability of the Uighur version of Chinese Soldier Personality Questionnaire (CSPQ) in Uygur ethnic group of recruited youtt.Methods:Using the two-way checklist,all the items were judged by professors as their items belonging to test the content validity.Totally 101 Uygur population of permanent residents and totally 102 patients with schizophrenia in remission in sample 1 were tested for discrimination validity analysis.Totally 460 Uygur youths were recruited to complete the Uygur form of CSPQ for subscale normal distribution analysis and reliability analysis in sample 2.Totally 118 students of Urumqi College of Land Army from sample 3 were selected and retested for test-retest reliability with three weeks interval.Results:Uygur form of CSPQ had 283 items and 8 dimensions.Classification and recognition rate judged by professors ranged from 74.6％ to 91.5％.Patients with schizophrenia scored higher than normal people in all scales.Reliability coefficients of the 8 dimensions ranged from 0.69 to 0.91,and the test-retest reliability ranged from 0.85 to 0.92.Conclusion:It suggests that Uighur version of Chinese Soldier Personality Questionnaire is of good validity and reliability.

Individualized anticoagulation versus empirical anticoagulation therapy after cardiac valve replacement in Uygur patients: A randomized controlled trial / 中国胸心血管外科临床杂志

@#Objective    To investigate whether the individualized anticoagulation therapy based on CYP2C9 and VKORC1 gene is superior to empirical anticoagulation therapy after artificial heart valve replacement surgery in Uygur patients. Methods    From December 2012 to December 2015, 210 Uygur patients who underwent artificial heart valve replacement surgery at the First Affiliated Hospital of Xinjiang Medical University were randomly assigned to a genetic anticoagulation therapy group (group A, n=106, 41 females and 65 males, aged 44.7±10.02 years) or an empirical anticoagulation therapy group (group B, n=104, 47 females and 57 males, aged 45.62±10.01 years) according to the random number table. CYP2C9 and VKORC1 genotypes were tested in the group A and then wafarin of administration in anticoagulation therapy was recommended. Patients in the group B were treated with conventional anticoagulation. Patients in both groups were followed up for 1 month and coagulation function was regularly tested. Results    The percentage of patients with INR values of 1.8-2.5 after 4 weeks warfarin anticoagulation treatment in the group A was higher than that in the group B (47.1% vs. 32.7%, P=0.038). The rate of INR≥3.0 in the warfarin anticoagulation therapy period in the group A was lower than that in the group B (21.6% vs. 26.5%, P=0.411). The time to reach the standard INR value and the time to get maintenance dose were shorter in the group A compared with the group B (8.80±3.07 d vs.   9.26±2.09 d, P=0.031; 14.25±4.55 d vs. 15.33±1.85 d, P=0.032). Bleeding occured in one patient in the group A and three patients in the group B (P=0.293). Embolic events occured in three patients in the group A and five patients in the group B (P=0.436). Conclusion    Compared with the empirical anticoagulation, the genetic anticoagulation based on wafarin dosing model can spend less time and make more patients to reach the standard INR value. However there is no significant difference between the two groups in the ratio of INR≥3.0, bleeding and embolic events in the warfarin anticoagulation therapy.

Association between APOE polymorphism and metabolic syndrome in Uyghur ethnic men.

OBJECTIVES: This study aimed to examine the association between apolipoprotein E (APOE) polymorphism and metabolic syndrome (MetS) among Uyghur ethnic men in Xinjiang, China. PARTICIPANTS: A total of 482 patients with MetS and 510 healthy sex-matched and age-matched controls were recruited from the Xinjiang Uyghur Autonomous Region of China. The participants were subjected to routine physical and blood biochemical tests, and APOE genotyping was performed. RESULTS: The APOE ε3/3 was the predominant type, with a frequency of 71.8%, while ε2/2 was less common than ε4/4 in Uyghur males. The frequencies of the APOE2, E3 and E4 alleles in Uyghur males were 8.5%, 80.0% and 11.5%, respectively. However, the distribution of APOE genotypes was significantly different between the MetS and control groups (p<0.001). In the MetS group, the frequencies of the ε2 and ε4 alleles and the frequencies of the ε2/2, ε2/3 and ε2/4 genotypes were significantly lower than those of the control group. Those individuals without the ε2 and ε4 alleles had higher MetS prevalence than the other gene carriers, and the ORs of these individuals developing MetS were 1.5 and 1.27 compared to the gene carriers. Triglyceride, serum total cholesterol and low-density lipoprotein cholesterol levels were lower and serum high-density lipoprotein was higher in the ε2 carriers than the ε3 carriers, and the prevalence of MetS, central obesity, high blood pressure, hypercholesterolaemia and hypertriglyceridaemia was lower in the APOE2 group than in the APOE4 group. The risks of these individuals with ε4 allele carriers getting these changes were 1.327, 1.780, 1.888, 1.428 and 2.571 times greater than those of ε2 allele carriers. CONCLUSIONS: APOE4 is associated with many individual components of MetS, whereas APOE2 was associated with a reduced risk of MetS at the univariate level in Uyghur ethnic men.

Association between polymorphism of α-Synuclein gene and Parkinson's disease of Uygurs nationality in Xinjiang / 中华老年医学杂志

Objective To explore the association between the single-nucleotide polymorphism (SNP) rs3822086 site of the α-Synuclein(SNCA)gene and Parkinson's disease (PD) of Uygurs versus Hans in Xinjiang,and to compare the distribution difference of this polymorphic site between the Uygurs and Hans.Methods The rs3822086 polymorphism was determined by polymerase chainreaction restriction fragment length polymorphism (PCR-RFLP) in 237 patients with idiopathic Parkinson's disease (IPD,including 92 Uygurs and 145 Hans) and 247 health controls (including 103 Uygurs and 144 Hans).Results In the group aged ≥60 years,the T/T,C/T genotypes and T allele frequency were higher in PD group (196 cases) than in control group (196 cases) (25.5％ vs.20.9％,52.0％ vs.44.4％ and 51.5％ vs.43.1％),for genotype:P=0.027,allele:P=0.018.Between the Uygur versus Han nationality population,the T/T,C/T genotype and T allele frequency in the Uygurs were lower than in the Hans (15.4％ vs.30.4 ％,45.6％ vs.50.5％ and 38.2％ vs.55.7％),for genotype:P =0.000,allele:P =0.000.Conclusions The SNP rs3822086 site of SNCA gene may be a potential susceptibility site of IPD patients over the age of 60 years in Xinjiang,and rs3822086C/T + T/T is susceptible genotypes and rs3822086T is susceptible alleles.The distribution of rs3822086 polymorphism of SNCA might have a significant difference between the Xinjiang Uygur and Han populations.

HLA-B Alleles Associated with Susceptibility or Resistance to Human Immunodeficiency Virus Type 1 in a Xinjiang Uygur Population, China / 中国病毒学

Host genetic factors, such as human leukocyte antigen (HLA) alleles, are important in Human immunod-eficiency virus (HIV) infection and its progression to AIDS. HLA class I genes, especially highly polymorphicHLA-B genes, are involved in the activation of HLA-restricted cytotoxic T lymphocytes (CTLs) against HIV, andthus control susceptibility to or protect against this virus. The present study was aimed to determine the distributionof HLA-B alleles in the Chinese Uygur ethnic group and its association with HIV infection. One hundred ten healthycontrol (HIV negative) and 128 HIV positive Chinese Xinjiang Uygur ethnic individuals were used in this study.HLA typing for B allele was performed by polymerase chain reaction (PCR) with sequence-specific primers (SSP).Hardy-Weinberg equilibrium was calculated using POPGENE software for the healthy control group. The HLA-Bfrequency of each allele was compared between the patients and the controls using the chi-square test. In HIV-1-pos-itive group, gene frequency of allele B * 4901 was significantly higher compared to the healthy control subjects (P=0.02, OR=3.06, 95%CI=1.16～8.10 forB*4901). In contrast, the gene frequency of B * 40 in healthy controlswas significantly higher than in the HIV-positive patients (P=0.02, OR=0.39, 95%CI=0.07～0. 92 for B* 40).In this study, HLA allele B * 4901 may be associated with increased susceptibility to HIV-1 infection, whereas the B* 40 allele may be associated with resistance to H HIV-1 infection.