Uygur Ethnic Group Research Articles

Molecular Epidemiological Survey of Glucose-6-Phosphate Dehydrogenase Deficiency and Thalassemia in Uygur and Kazak Ethnic Groups in Xinjiang, Northwest China

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and thalassemia occur frequently in tropical and subtropical regions, while the prevalence of relationship between the two diseases in Xinjiang has not been reported. We aimed to determine the prevalence of these diseases and clarify the relationship between genotypes and phenotypes of the two diseases in the Uygur and Kazak ethnic groups in Xinjiang. We measured G6PD activity by G6PD:6PGD (glucose acid-6-phosphate dehydrogenase) ratio, identified the gene variants of G6PD and α- and β-globin genes by polymerase chain reaction (PCR)-DNA sequencing and gap-PCR and compared these variants in different ethnic groups in Xinjiang with those adjacent to it. Of the 149 subjects with molecular analysis of G6PD deficiency conducted, a higher prevalence of the combined mutations c.1311C > T/IVSXI + 93T > C and IVSXI + 93T > C, both with normal enzymatic activities, were observed in the Uygur and Kazak subjects. A case of rare mutation HBB: c.135delC [codon 44 (−C) in the heterozygous state], a heterozygous case of HBB: c.68A > G [Hb G-Taipei or β22(B4)Glu→Gly] and several common single nucleotide polymorphisms (SNPs) were found on the β-globin gene. In conclusion, G6PD deficiency with pathogenic mutations and three common α-thalassemia (α-thal) [– –SEA, −α3.7 (rightward), −α4.2 (leftward)] deletions and point mutations of the α-globin gene were not detected in the present study. The average incidence of β-thalassemia (β-thal) in Uygurs was 1.45% (2/138) in Xinjiang. The polymorphisms of G6PD and β-globin genes might be useful genetic markers to trace the origin and migration of the Uygur and Kazak in Xinjiang.

Association between variation in the genes DDAH1 and DDAH2 and hypertension among Uygur, Kazakh and Han ethnic groups in China.

Dimethylarginine dimethylaminohydrolase enzymes (DDAH), which are encoded by the genes DDAH1 and DDAH2, play a fundamental role in maintaining endothelial function. We conducted a case-control study on a Chinese population that included three ethnic groups (Han, Kazakh and Uygur), to systemically investigate associations between variations in the genes DDAH1 and DDAH2 and hypertension. Experimental study at the Department of Internal Medicine and Genetic Diagnosis, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. This case-control study included 1,224 patients with hypertension and 967 healthy unrelated individuals as controls. DDAH1 -396 4N (GCGT) del>ins, rs3087894, rs805304 and rs9267551 were genotyped using the TaqMan 5' nuclease assay. The G/C genotype of rs3087894 in DDAH1 was a risk factor for hypertension in the Kazakh group in the co-dominant model (G/C versus G/G) (OR 1.39; 95% CI: 1.02-1.88; P < 0.05), with the same result in the dominant model (G/C + C/C versus G/G) (OR 1.38; 95% CI: 1.03-1.84; P < 0.05). In contrast, the C/C genotype of rs3087894 seemed to be a protective factor against hypertension in the Uygur group in the recessive model (C/C versus G/G + G/C) (OR 0.62; 95% CI: 0.39- 0.97; P < 0.05). Similar findings for rs3087894 were also observed after adjusting the variable for the age covariate. Our results indicated that the C-allele of rs3087894 in DDAH1 was a risk factor for hypertension in the Kazakh group but a protective factor in the Uygur group.

CAMK4 gene variation is associated with hypertension in a Uygur population.

Considering that calcium/calmodulin-dependent kinase 4 (CAMK4) plays a pivotal role in blood pressure regulation, we investigated the association between a CAMK4 polymorphism (rs10491334) and hypertension in the Han, Kazak, and Uygur ethnic groups. We studied 1224 patients with hypertension and 967 normotensive controls classified into three ethnic groups (Han, Kazak, and Uygur). The rs10491334 polymorphism was genotyped using a TaqMan® 5'-nuclease assay. In the Uygur group, the T-allele frequency in patients with hypertension was twice that of the controls (12.5 vs 6.38%), and T-allele carriers had a significantly increased risk of hypertension compared with non-carriers (odds ratio = 2.200; 95% confidence interval = 1.473-3.285, P < 0.001). However, no significant correlation was found in the Han and Kazak groups. The T-allele of rs10491334 in CAMK4 was associated with hypertension in the Uygur group.

Population difference in the association of BDNF promoter methylation with mild cognitive impairment in the Xinjiang Uygur and Han populations

BackgroundMild cognitive impairment (MCI) is a clinical transitional stage between normal aging and Alzheimer disease, which leads to memory loss and a reduction in cognitive function. Brain derived neurotrophic factor (BDNF) plays an important role in neuronal development and plasticity. The aim of this study was to explore the association between BDNF promoter methylation and MCI in the Xinjiang Uygur and Han populations. MethodsA DNA methylation assay using bisulfite pyrosequencing technology was performed on 96 Uygur and 96 Han Chinese individuals from Xinjiang province, China. ResultsWe found a significantly higher BDNF methylation level in Han MCI cases than in Uygur MCI cases in males from Xinjiang province (p=0.022). In addition, the methylation level was significantly higher in Xinjiang Han healthy Chinese individuals (Northwestern China) than in Ningbo Han healthy Chinese individuals (Southeastern China) (Female and Male: p=1.17E−05; Female: p=0.020; Male: p=1.37E−04). But our results showed no significant association of BDNF methylation with MCI in either the Uygur or Han Chinese populations (p>0.05). Further gender-based subgroup analyses did not find any significant results (p>0.05). ConclusionOur results indicate that different levels of BDNF methylation may be present in different populations and environments. This study also provides further information regarding the relationship between BDNF methylation levels and MCI in Xinjiang Uygur and Han ethnic groups.

Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

BackgroundDrug response variability observed amongst patients is caused by the interaction of both genetic and non-genetic factors, and frequencies of functional genetic variants are known to vary amongst populations. Pharmacogenomic research has the potential to help with individualized treatments. We have not found any pharmacogenomics information regarding Uygur ethnic group in northwest China. In the present study, we genotyped 85 very important pharmacogenetic (VIP) variants (selected from the PharmGKB database) in the Uygur population and compared our data with other eleven populations from the HapMap data set.ResultsThrough statistical analysis, we found that CYP3A5 rs776746, VKORC1 rs9934438, and VKORC1 rs7294 were most different in Uygur compared with most of the eleven populations from the HapMap data set. Compared with East Asia populations, allele A of rs776746 is less frequent and allele A of rs7294 is more frequent in the Uygur population. The analysis of F-statistics (Fst) and population structure shows that the genetic background of Uygur is relatively close to that of MEX.ConclusionsOur results show significant differences amongst Chinese populations that will help clinicians triage patients for better individualized treatments.

24 Y-chromosomal STR haplotypic polymorphisms for Chinese Uygur ethnic group and its phylogenic analysis with other Chinese groups.

The Uygur ethnic minority is the largest ethnic group in the Xinjiang Uygur Autonomous Region of China, and is a precious resource for the study of ethnogeny and forensic biology. Previous studies have focused on the genetic background of the Uygur group, however, the patrilineal descent of the group is still unclear. In this study, we investigated the genetic diversity of 24 Y-STR loci in the Uygur group and analyzed the population differentiations as well as the genetic relationships between the Uygur group and other previously reported populations using 17 Y-filer loci. According to haplotypic analysis of the 24 Y-STR loci in 109 Uygur individuals, 104 different haplotypes were obtained, 99 of which were unique. The haplotypic diversity and discrimination capacity of these 24 Y-STR loci in Uygur group were 0.9992 and 0.9541, respectively. An additional 7 loci (DYS388, DYS444, DYS447, DYS449, DYS522, and DYS527a,b) showed high genetic diversity and improved the overall discrimination capacity of the 24 Y-STR system. Pairwise Fst and neighbor-joining analysis showed that the Uygur group was genetically close to the Han populations from different regions.

Association between the PNPLA3 I148M polymorphism and non-alcoholic fatty liver disease in the Uygur and Han ethnic groups of northwestern China.

ObjectiveMultiple common gene variants play a role in non-alcoholic fatty liver disease (NAFLD) susceptibility. Our goal was to investigate the association between variants polymorphisms and NAFLD in the Uygur and Han from Northwestern China.MethodsEight tag single nucleotide polymorphisms (tSNPs) previously reported to be associated with NAFLD were characterized in 396 NAFLD individuals and 399 controls. The association of variants with NAFLD in the Uygur and Han was assessed using the chi-squared (χ2) test in different gene models. Unconditional logistic regression analysis was performed to obtain the odds ratios (ORs) for risk of NAFLD and their 95% confidence intervals (CI), adjusted for confounding factors. Finally, stratified analysis was used to explore the potential gene-environment interactions on the risk of NAFLD.ResultsIn a recessive model, we found a potential association between rs738409 and NAFLD in both ethnic groups: Chinese Han (OR = 1.84, 95% CI: 1.03–3.27, p = 0.036), Uygur (OR = 2.25, 95% CI: 1.23–4.09, p = 0.006). The multiple logistic regression revealed that PNPLA3 rs738409 GG genotype may increase the risk of NAFLD by adjusting some confounding factors: Han (OR = 5.22, 95% CI: 1.94–14.04, p = 0.001), Uygur (OR = 4.29, 95% CI: 1.60–11.48, p = 0.004). Stratified analysis found that rs738409 polymorphism appeared to have interaction with sex, smoking status in Uygur, and have interaction with sex, age, BMI stage, lifestyle in Han.ConclusionOur data suggest the PNPLA3 I148M polymorphism influences susceptibility to NAFLD in the Han and Uygur of Northwestern China.

Overview of application and research of Echinops genus in Chinese medicine

Asteraceae Echionopos (Echinops genus) is one of the world's plants commonly used in traditional Chinese medicine herbs. In this paper, a lot of literature on the basis of domestic and foreign, and modern research on the application of medicinal plants in different ethnic groups in our country Echionopos made a brief presentation and evaluation, and its in Chinese Han, Mongolian, Uygur, Kazak, Korean and other ethnic groups in the application of traditional medicine and related research conducted profiles. To further comprehensive and accurate use of the abundant plant resources and research, in order to find biologically active natural products, provide reference basis for the clinical application of new drugs developed and expanded drug source.

GW25-e0835 Differences in Mean Platelet Volume (MPV) among healthy Uygur, Kazakh and Han ethnic groups in Xinjiang, China

Platelets play an important role in atherogenesis, inflammation and atherosclerosis. Mean platelet volume (MPV), a measure of platelet size in every blood count is increasingly recognized as an important marker of platelet activity. It has been reported that MPV value was increased in cardiovascular

Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups.

BackgroundIt has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson’s disease (PD). PARK9 mutations are found in early-onset PD and familial PD patients. Uygur and Han PD patients in the Xinjiang area were recruited as research subjects to study the differences in the Thr12Met and Ala1144Thr loci mutations of the ATP13A2 gene in these PD populations. This study explored the mutations at the Thr12Met and Ala1144Thr gene loci of the ATP13A2 gene in Parkinson’s disease patients in the Uygur and Han populations in the Xinjiang province.Material/MethodsThe polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze the Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in a case-control study of 200 age- and sex- matched Uygur and Han PD patients.ResultsOf the 200 PD patients were studied, 2 from the Han group had a Thr12Met mutation, but Ala1144Thr mutations were not found. Among the Uygur PD patients, no Thr12Met or Ala1144Thr mutations were found.ConclusionsThr12Met and Ala1144Thr mutations of the ATP13A2 gene are rare in the Uygur PD patients in Xinjiang. Overall, the mutation rates of Thr12Met and Ala1144Thr in the Uygur and Han PD patients in the Xinjiang region are low.

Correlation between the single nucleotide polymorphisms of the human phosphodiesterase 4D gene and the risk of cerebral infarction in the Uygur and Han ethnic groups of Xinjiang, China

In this study, the correlation between the single nucleotide polymorphisms (SNPs) at rs2910829 and rs918592 in the phosphodiesterase 4D (PDE4D) gene and cerebral infarction in the Uygur and Han ethnic groups of Xinjiang, China were examined. The study population consisted of 373 Uygur and Han patients with cerebral infarction and 377 Uygur and Han control participants with no nervous system diseases. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and gene sequencing methods were used to assess the SNPs at the rs2910829 and rs918592 loci in the PDE4D gene. The differences in genotype and allele frequency distribution were compared between the two groups. The C allele frequency of the rs2910829 locus in the PDE4D gene of the cerebral infarction group (81.0%) was significantly higher than that of the control group (76.4%) (P<0.05). Furthermore, the A allele frequency of the rs918592 locus in the PDE4D gene in the Uygur cerebral infarction group was significantly higher than that of the Uygur control group (P<0.05). There were no significant differences in the genotype and allele frequency distributions between the Uygur and Han groups (P>0.05). The A allele of the rs918592 locus may be associated with the occurrence of cerebral infarction in the Uygur population. In addition, it was indicated that the C allele of the rs2910829 locus in the PDE4D gene confers susceptibility to cerebral infarction; however, no significant difference was identified between Uygur and Han patients with cerebral infarction.

The prevalence of isolated systolic hypertension in adult populations from the Han, Uygur and Kazakh ethnic groups in Xinjiang, China

Objectives. To estimate the current prevalence and epidemiology of isolated systolic hypertension (ISH) among adult populations from different ethnic groups in Xinjiang province and to further establish a theoretical basis for developing personalized therapeutic strategies for hypertensive populations. Methods. To analyze the prevalence and risk factors of ISH in different ethnic groups in Xinjiang province, a cluster sampling method was adopted to conduct a cross-sectional study on people aged 35 years and older from the Han, Uygur and Kazakh populations in the Urumqi, Kelamayi, Hetian, Zhaosu, Fukang, Tulufan and Fuhai. Results. A total of 14,618 adults were surveyed with a response rate of 88.80%. The overall prevalence of ISH was 11.95% (men: 10.84% vs women: 12.92%); the prevalence of ISH in women was significantly higher (χ2 = 15.06, p = 0.00) than that in men. The prevalence varied significantly with age (χ2 = 822.71, p = 0.00) and increased in the elderly (χ2 = 769.59, p = 0.00). A logistic regression analysis revealed that age, obesity, diabetes and dyslipidemia are major risk factors for ISH; patients with hypertension combined with obesity or diabetes are at a high risk of ISH. Conclusions. The prevalence of ISH in Xinjiang is higher than average and exhibits a gender difference. There is a trend of increased prevalence with increasing age. Populations with obesity, diabetes or dyslipidemia, and patients who have hypertension combined with obesity and/or diabetes, should be aware of early preventive interventions.

Genetic variation in Tanis was associated with elevating plasma triglyceride level in Chinese nondiabetic subjects

BackgroundThe association of genetic polymorphisms of Tanis with triglyceride concentration in human has not been thoroughly examined. We aimed to investigate the relationship between triglyceride concentrations and Tanis genetic polymorphisms.MethodsAll participants (n=1497) selected from subjects participating in the Cardiovascular Risk Survey (CRS) study were divided into two groups according to ethnicity (Han: n=1059; Uygur: n= 438). Four tagging SNPs (rs12910524, rs1384565, rs2101171, rs4965814) of Tanis gene were genotyped using TaqMan® assays from Applied Biosystems following the manufacturer’s suggestions and analyzed in an ABI 7900HT Fast Real-Time PCR System.ResultsWe found that the SNP rs12910524 was associated with triglyceride levels by analyses of a dominant model (P<0.001), recessive model (P <0.001) and additive model (P < 0.001) not only in Han ethnic but also in Uygur ethnic group, and the difference remained significant after the adjustment of sex, age, alcohol intake, smoking, BMI and plasma glucose (GLU) level (All P < 0.001). However, this relationship was not observed in rs1384565, rs2101171, and rs4965814 before and after multivariate adjustment (All P > 0.05). Furthermore, there were significant interactions between rs12910524 and GLU on TG both in Han (P=0.001) and Uygur population (P=2.60×10-4).ConclusionOur results indicated that the rs12910524 in the Tanis gene was associated with triglyceride concentrations in subjects without diabetes in China.

Differences in Epidermal Growth Factor Receptor Gene Mutations and Relationship with Clinicopathological Features in NSCLC Between Uygur and Han Ethnic Groups

To investigate differences in mutations of epidermal growth factor receptor (EGFR) gene and relationships with clinicopathological features in patients with non-small cell lung cancer (NSCLC) between Uygur and Han ethnic groups. The Scorpions amplification refractory mutation system (Scorpions ARMS) was used to measure mutations in exons 18, 19, 20 and 21 of the EGFR gene in paraffin-embedded tumor tissue from NSCLC cases, and statistical analysis was performed to investigate links with clinicopathological features in different histological types of NSCLC. Results from ARMS testing showed EGFR mutations in tumor tissues from six (6) of 50 NSCLC patients of Uygur ethnic group, with a positive rate of 12.0%; four of them (4) had exon 19 deletion in EGFR, and two (2) had L858R point mutation in exon 21 of EGFR. Statistically significant difference was noted in EGFR genetic mutation between adenocarcinoma and non-adenocarcinoma (P < 0.05), but no differences with gender, age group, smoking status, or stage (P > 0.05). EGFR mutations were detected in tumor tissues from 27 of 49 NSCLC patients of Han ethnic group , with a positive rate of 55.1%; 19 of them had exon 19 deletions, seven (7) had L858R point mutations in exon 21 of EGFR and one (1) had mutations in both exon 18 G719X and exon 20 T790M of EGFR. Statistically significant differences were noted in EGFR genetic mutations between genders and between adenocarcinoma and non-adenocarcinoma (P<0.05), but not with age group, smoking status, or stage (P > 0.05). Statistically significant differences were noted in the positive rates of EGFR genetic mutations in NSCLC patients between Uygur and Han ethnic groups, with lower positive rates for the Uygur cases.

Associations of plasma atrial natriuretic peptide and electrolyte levels with essential hypertension

This study aimed to investigate the associations among the levels of plasma atrial natriuretic peptide (ANP) and electrolytes and essential hypertension (EH) in Uygur, Han and Kazakh populations in Xinjiang. A total of 724 hypertensive participants of different ethnicities from Xinjiang (208 Uygur, 287 Han and 229 Kazakh) and 741 normal controls (208 Uygur, 267 Han and 266 Kazakh) were enrolled. The associations of ANP with serum potassium, serum sodium and blood pressure were assessed. In the normal control (NT) group, the concentration of ANP was higher in the Uygur population than in the Han population, and the concentration in the Han population was higher than that in the Kazakh population (P<0.05). In the EH group, the serum potassium levels of the Uygur and Han populations were higher than that of the Kazakh population (P<0.05). The ANP concentration in the Uygur ethnic group was higher than that in the Han population, which was in turn higher than that in the Kazakh participants (P<0.05). In the Kazakh population, the serum potassium level was significantly lower in the EH group compared with that in the NT group (P<0.05). The serum potassium level was significantly lower and the ANP concentration significantly higher in the EH group compared with those of NT groups in the Uygur and Han populations (P<0.05). Age and body mass index (BMI) were associated with hypertension in the Uygur, Han and Kazakh populations. Low serum potassium may be a risk factor of hypertension in individuals of Uygur and Kazakh ethnicity. Plasma ANP may be a regulatory factor involved in the development of hypertension in Uygur and Han populations.

Population genetic data of 15 autosomal STR loci in Uygur ethnic group of China

Population genetic data of 15 autosomal STR loci in Uygur ethnic group of China

Human herpesvirus-8 in northwestern China: epidemiology and characterization among blood donors

BackgroundHuman herpes virus 8 (HHV-8) is the etiologic agent associated with development of classical, AIDS-related, iatrogenic, and endemic Kaposi's sarcoma (KS). Several studies provide strong evidence that HHV-8 can be transmitted by blood transfusion. We evaluated the seroprevalence and potential risk factors of HHV-8 infection in blood donors in one region. We surveyed HHV-8 infection among 4461 blood donors in Xinjiang, China, a unique endemic area for HHV-8 and KS.ResultsThe HHV-8 seroprevalence was higher in local minority groups which comprise most KS cases in China, than in Han people. HHV-8 prevalence was 18.6% in the Han ethnic group, 25.9% in Uygur subjects, 29.2% in Kazak subjects, 36.8% in Mongolian subjects, and 21.9% in other ethnic groups. In several subgroups, the time of donation of whole blood seemed to be a risk factor. In HHV-8-seropositive subjects, a larger fraction of local minorities (23.9%) had high HHV-8 titers than that of Han subjects (9.2%). HHV-8 infection was associated with ethnicity and residence.ConclusionHHV-8 seroprevalence was significantly high among blood donors in Xinjiang, where the prevalence of KS correlates with HHV-8 prevalence and titers in Uygur and Kazak ethnic groups. Blood exposure represented by the frequency of blood donation indicated a possible blood-borne transmission route of HHV-8 in Xinjiang. Detecting anti-HHV-8 antibodies before donation in this region is therefore important.

Genetic data for 15 STR loci in Uygur ethnic group of northwest China

________________________ *) Corresponding author; PhD. Lu-shun Zhang, Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University (West China University of Medical Sciences), Chengdu 610041, Sichuan, PR China; Tel: 86-28-85460532; Fax: 86-28-85405541; Email: zhangls2009@yahoo.cn 1) Forensic Medical Identification Center, Urumqi Public Security Bureau, Urumqi, 830038, Xinjiang, PR China 2) Institute of Forensic Medicine, Xin Jiang Medical University, Urumuqi, 830054, Xinjiang, PR China 3) Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University (West China University of Medical Sciences), Chengdu, 610041, Sichuan, PR China.

Genetic polymorphisms of X-STR loci in Chinese Yugur ethnic group and its application

To study the genetic polymorphism of nine short tandem repeats (STRs) loci (DXS7130, DXS7132, DXS6804, DXS7423, DXS7424, DXS6789, DXS6799, DXS8378, and HPRTB) on X chromosome in Chinese Yugur ethnic group. The allele and genotype frequency of nine X-STR loci among 120 unrelated individuals (55 female, 65 male) from Yugur ethnic group were analyzed using PCR and followed by polyacrylamide gel electrophoresis and silver staining. The numbers of alleles in the nine X-STR loci were 8, 6, 6, 5, 6, 7, 6, 4, and 6, respectively; the numbers of genotypes in the nine loci were 16, 14, 13, 6, 13, 20, 11, 6, and 12, respectively. The genotype frequencies in females were in accordance with Hardy-Weinberg equilibrium (P>0.05). The nine X-STR loci were relatively abundant in polymorphic information for individual identification, paternity testing and population genetics. A total of 15 haplotypes were detected in DXS7130 and DXS8378 loci, and 55 haplotypes were detected in DXS6789, DXS6799, DXS7424, and DXS6804 loci. The haplotype diversity reached 0.8212 and 0.9947, respectively. Phylogeny tree and cluster analysis based on X-STR allele frequencies in genesis showed that Yugur ethnic group share a close relationship with Mongolian ethnic group and Chinese Han, Tibetan population and far from Hui and Uygur ethnic group, who dwell in the northwest of China.

Allele frequencies of mitochondrial D-loop (CA) n repeat polymorphism in six Chinese ethnic groups

Allele frequencies of mitochondrial D-loop (CA) n repeat was carried out in six Chinese ethnic groups: Han ethnic group in Beijing, Uygur ethnic group in Kashi of Xinjiang province, Li ethnic group in Hainan province, Yao ethnic group in Junan of Guangxi province, Tibet ethnic group in Lasa of Xizang province and Yi ethnic group in Honghe of Yunnan province. A total of 542 individuals were typed. Comparative analyses between our population data and other populations gathered from the literature were performed.