Han Population In Xinjiang Research Articles

Association of the LPA gene polymorphisms with coronary artery disease risk in the Xinjiang population of China: A case-control study.

Lipoprotein(a) is a well-known independent risk factor for coronary artery disease (CAD) and primarily determined by variation in the LPA gene coding for the apolipoprotein(a) moiety. Our study purpose was to evaluate the association between the human LPA gene polymorphisms and CAD in Han and Uyghur populations in Xinjiang, China. A case-control study was conducted with 831 Han people (392 CAD patients and 439 control subjects) and 829 Uygur people (513 CAD patients and 316 control subjects). All participants were genotyped for the same 3 single nucleotide polymorphisms (rs1801693, rs6923877, and rs9364559) of the LPA gene by a Real-time PCR instrument. In CAD patients, the levels of lipoprotein(a) were significantly higher in the Han population with the C/C genotype at the rs1801693 (P = .018) and the A/A genotype at the rs9364559 (P = .029) than in the Uyghur population. The polymorphisms rs1801693, rs6923877, and rs9364559 were found to be associated with CAD in the Han population. For men, the distribution of rs1801693 in genotypes, alleles and recessive model (CC vs CT + TT) showed a significant difference (all P < .05), and the difference in recessive model was retained after adjustment for covariates (odds ratio [OR]: 0.557, 95% confidence interval [CI]: 0.355-0.874, P = .011). But the distribution of rs6923877 in genotypes and dominant model (GG vs AG + AA) showed a significant difference (both P < .05) in both men and women, and the difference was kept in dominant model after adjustment (OR: 1.473, 95% CI:1.009-2.148, P = .045). For women, a significant difference was found in the distribution of rs9364559 in the alleles and dominant model (AA vs AG + GG) (for alleles: P = .021, for dominant model: P = .025, OR: 0.560, 95% CI:0.350-0.898, P = .016) after adjustment. Polymorphisms rs1801693, rs6923877, and rs9364559 of the LPA gene are associated with CAD in the Han population in Xinjiang Uygur Autonomous Region of China.

Genetic polymorphism of the Dab2 gene and its association with Type 2 Diabetes Mellitus in the Chinese Uyghur population.

The human Disabled-2 (Dab2) protein is an endocytic adaptor protein, which plays an essential role in endocytosis of transmembrane cargo, including low-density lipoprotein cholesterol (LDL-C). As a candidate gene for dyslipidemia, Dab2 is also involved in the development of type 2 diabetes mellitus(T2DM). The aim of this study was to investigate the effects of genetic variants of the Dab2 gene on the related risk of T2DM in the Uygur and Han populations of Xinjiang, China. A total of 2,157 age- and sex-matched individuals (528 T2DM patients and 1,629 controls) were included in this case-control study. Four high frequency SNPs (rs1050903, rs2255280, rs2855512 and rs11959928) of the Dab2 gene were genotyped using an improved multiplex ligation detection reaction (iMLDR) genotyping assay, and the forecast value of the SNP for T2DM was assessed by statistical analysis of clinical data profiles and gene frequencies. We found that in the Uygur population studied, for both rs2255280 and rs2855512, there were significant differences in the distribution of genotypes (AA/CA/CC), and the recessive model (CC vs. CA + AA) between T2DM patients and the controls (P < 0.05). After adjusting for confounders, the recessive model (CC vs. CA + AA) of both rs2255280 and rs2855512 remained significantly associated with T2DM in this population (rs2255280: OR = 5.303, 95% CI [1.236 to -22.755], P = 0.025; rs2855512: OR = 4.892, 95% CI [1.136 to -21.013], P = 0.033). The genotypes (AA/CA/CC) and recessive models (CC vs. CA + AA) of rs2855512 and rs2255280 were also associated with the plasma glucose and HbA1c levels (all P < 0.05) in this population. There were no significant differences in genotypes, all genetic models, or allele frequencies between the T2DM and control group in the Han population group (all P > 0.05). The present study suggests that the variation of the Dab2 gene loci rs2255280 and rs2855512 is related to the incidence of T2DM in the Uygur population, but not in the Han population. In this study, these variations in Dab2 were an independent predictor for T2DM in the Uygur population of Xinjiang, China.

Genetic analysis of DNA methylation in dyslipidemia: a case-control study.

Coronary heart disease has become the leading cause of death in developed countries, and dyslipidemia is closely associated with the risk of cardiovascular disease. Dyslipidemia is caused by the abnormal regulation of several genes and signaling pathways, and dyslipidemia is influenced mainly by genetic variation. AMFR, FBXW7, INSIG1, INSIG2, and MBTPS1 genes are associated with lipid metabolism. In a recent GWAS study, the GRINA gene has been reported to be associated with dyslipidemia, but its molecular mechanism has not been thoroughly investigated. The correlation between the DNA methylation of these genes and lipid metabolism has not been studied. This study aimed to examine the relationship between the DNA methylation of these genes and the risk of dyslipidemia by comparing the methylation levels of dyslipidemia and control samples. A case-control research method was used in this study. The patient's blood samples were collected at the Heart Center of the First Affiliated Hospital of Xinjiang Medical University. In the Xinjiang Han population, 100 cases of hyperlipidemia and 80 cases of the control group were selected. The two groups were age and gender-matched. Quantitative methylation analysis of CpG sites in the gene promoter regions of six genes was performed by Solexa high-throughput sequencing. The DNA methylation levels of 23 CpG sites in six genes were shown to be associated with hyperlipidemia, and a total of 20 DNA methylation haplotypes showed statistically significant differences between the two groups. When compared with the control group, the dyslipidemia group had significantly higher levels of methylation in the GRINA gene (2.68 vs 2.36, P = 0.04). Additionally, we also discovered a significant methylation haplotype of GRINA (P = 0.017). The findings of this study reveal that the DNA methylation of GRINA increases the risk for dyslipidemia in humans.

GLUT4 gene rs5418 polymorphism is associated with increased coronary heart disease risk in a Uygur Chinese population

BackgroundTo explore possible associations between glucose transporter 4 (GLUT4) genetic polymorphisms in the patients with coronary heart disease (CHD) in Han and Uygur Chinese populations in Xinjiang, China.MethodsTwo GLUT4 polymorphisms (rs5418 and rs5435) were genotyped in 1262 Han (628 CHD patients and 634 healthy controls) and 896 Uyghur (397 CHD patients and 499 healthy controls) Chinese populations.ResultsIn the Han Chinese population, there were no significant differences in allelic or genotypic distribution of rs5418 and rs5435 between the CHD and control groups (all P > 0.05). However, in the Uygur population, there were significant differences in genotype and allele distributions for rs5418 between CHD and the control group (all P < 0.05). Binary Logistic regression analysis showed that carriers with the rs5418 A allele had a higher risk of CHD compared to carriers of the rs5418 G allele (OR = 1.33, 95% CI: 1.069–1.649, P = 0.01), after adjustment for gender, age, drinking and smoking behavior, hypertension and diabetes. Furthermore, haploid association analysis of the two SNP loci of the GLUT4 gene showed that the AC haplotype was associated with CHD in the Uygur population (P = 0.001598; OR = 1.36, 95% CI = 1.1228–1.6406).Conclusionsrs5418 GLUT4 gene variants are associated with CHD in the Uygur Chinese population.

Prevalence and Risk Factors of Kaposi's Sarcoma-Associated Herpesvirus Infection among Han and Uygur Populations in Xinjiang, China.

Kaposi's sarcoma-associated herpesvirus (KSHV) is the causative agent of Kaposi's sarcoma (KS), which is endangering human health worldwide, especially in Africa, Europe, the United States, and parts of Asia. The aim of this study was to investigate the prevalence of KSHV in Xinjiang. Three KSHV recombinant proteins (ORF65, ORF73, and K8.1) were used to detect KSHV infection. The serum samples to be tested were detected by an indirect ELISA method. The overall infection rate of KSHV in Xinjiang was 25.60%, with a higher infection rate in the Uygur population of 29.79%. After adjusting for possible confounders, Uygur (OR = 3.95, 95% CI 2.64–6.12, P < 0.001), agriculture and livestock (OR = 1.60, 95% CI 1.20–2.17, P = 0.002), age ≤ 50 years (OR = 1.50, 95% CI 1.13–2.00, P = 0.006), and predominantly meat-based diet (OR = 1.72, 95% CI 1.11–2.78, P = 0.018) were significantly associated with the odds of KSHV seropositivity correlation. Three unique sequences of KSHV were obtained in this study; genotypic analysis showed that the three unique sequences were all subtype A2.

Prevalence and risk factors for myopia and high myopia: A cross-sectional study among Han and Uyghur students in Xinjiang, China.

This study aimed to investigate the prevalence and risk factors for myopia and high myopia among Han and Uyghur students in Xinjiang, China. This cross-sectional study with a multistage, stratified cluster sampling method was completed in Xinjiang, China. Visual acuity and noncycloplegic refraction were measured. The crude and sex- and age-adjusted prevalence of myopia and high myopia in Han and Uyghur students were compared. Multivariate logistic regression analyses were applied to identify risk factors associated with myopia and high myopia. In total, 84,033 participants were included in the final analysis, comprising 64,110 Han and 19,923 Uyghur participants. The overall age- and sex-adjusted prevalence of myopia and high myopia were 47.70% (95% CI: 47.67-47.74) and 2.55% (95% CI: 2.54-2.56), respectively. Compared to the Uyghur population, the Han population had a higher prevalence of myopia (63.59% vs. 21.34%, p<0.0001) and high myopia (4.68% vs. 0.6%, p<0.0001). Han ethnicity, age, female sex, higher education level and living in urban areas were found to be positively associated with myopia and high myopia. Living in northern Xinjiang was found to be positively associated with myopia but negatively associated with high myopia. Our study investigated the prevalence of myopia and high myopia among Han and Uyghur students aged 4-23years in Xinjiang, China. The Han population had a higher prevalence of myopia and high myopia than the Uyghur population. However, the prevalence of myopia among the Uyghur population showed a more remarkable increasing trend than that among the Han population in Xinjiang.

Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors

PCSK9 plays a crucial role in lipid metabolism. This case–control study explored the associations of novel single nucleotide polymorphisms (SNPs) of the PCSK9 gene with coronary artery disease (CAD) (≥ 1 coronary artery stenosis ≥ 50%) and its risk factors in the Han population in Xinjiang, China. Four tag SNPs (rs11583680, rs2483205, rs2495477 and rs562556) of the PCSK9 gene were genotyped in 950 CAD patients and 1082 healthy controls. The distributions of genotypes in rs2483205 and rs562556 were significantly different between the groups (all p < 0.05). The TT genotype of rs2483205, GG genotype of rs562556, and their H4 (T-G) haplotype were associated with CAD [odds ratio (OR) 0.65, confidence interval (CI) 0.45–0.95, p = 0.024; 0.63, 0.45–0.90, p = 0.011; 0.50, 0.35–0.70, p < 0.001, respectively]. Additionally, the model (TT + CT vs. CC) of rs2483205 was associated with increased risk of obesity, and the G allele of rs562556 was associated with lower low-density lipoprotein cholesterol (LDL-C), blood glucose, body mass index (BMI), and mean platelet volume (MPV) (all p < 0.05). rs2483205, rs562556, and their H4 haplotype of the PCSK9 gene were associated with CAD. Additionally, rs2483205 is associated with obesity, and rs562556 is associated with LDL-C, blood glucose, BMI, and MPV.

Association between CCN1 gene polymorphism and acute coronary syndrome in Chinese Han and Uygur populations

BackgroundCCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the association between CCN1 polymorphisms and ACS among Han and Uygur populations in Xinjiang, China.ResultsIn this case-control study, 1234 Han (547 ACS patients and 687 controls) and 932 Uygur (471 ACS patients and 461 controls) were genotyped using SNPscanTM for three single-nucleotide polymorphisms (SNPs, rs6576776, rs954353, and rs3753794) of the human CCN1 gene. In the Uygur population, we found that the detected frequencies of the C allele (25.3% vs. 18.3%, P<0.001) and CC genotype (6.4% vs. 3.0%, P=0.001) of rs6576776 were significantly higher in the ACS patients than in the control participants. Differences in rs6576776 regarding the dominant model (CC+CG vs. GG, 44.2% vs. 55.8%, P=0.001) and the recessive model (CC vs. CG+GG, 6.4% vs. 93.6%, P=0.016) were observed between the two groups. The frequencies of the GGC and AGC haplotypes in those with ACS were significantly higher than those in the control group (all P<0.05) in the Uygur population. After adjusting for hypertension, diabetes, lipids and smoking, all of which indicate that the rs6576776 C allele is associated with higher risk of ACS (odds ratio (OR)=1.798, 95% confidence interval (CI), 1.218-2.656, P=0.003). In Han population, neither the distribution of genotypes and alleles of the CCN1 gene three SNPs nor the distribution of haplotypes constructed with the three SNPs exhibited a significant difference between the ACS patients and control participants.ConclusionsOur study document that the CCN1 gene rs6576776 C allele is associated with higher susceptibility of ACS and that the frequencies of GGC and AGC haplotypes are higher among the Uygur ACS patients.

Genetic polymorphism of IDOL gene was associated with the susceptibility of coronary artery disease in Han population in Xinjiang, China

BackgroundCoronary artery disease (CAD) is the leading cause of death worldwide. In this study, we aimed to explore whether some genetic variants of the human IDOL gene were associated with CAD among Chinese population in Xinjiang.MethodsWe designed two independent case–control studies. The first one included in the Han population (448 CAD patients and 343 controls), and the second one is the Uygur population (304 CAD patients and 318 controls). We genotyped three SNPs (rs2072783, rs2205796, and rs909562) of the IDOL gene.ResultsOur results revealed that, in the Han female subjects, for rs2205796, the distribution of alleles, dominant model (TT vs. GG + GT) and the additive model (GG + TT vs. GT) showed significant differences between CAD patients and the control subjects (P = 0.048, P = 0.014, and P = 0.032, respectively).ConclusionsThe rs2205796 polymorphism of the IDOL gene is associated with CAD in the Chinese Han female population in Xinjiang, China.

Prevalence and risk factors of myopic maculopathy: a cross-sectional study in Han and Uygur adults in Xinjiang, China

ObjectivesTo estimate the prevalence, ethnic differences and associated risk factors of myopic maculopathy in Han and Uygur adults in Xinjiang, China.Design and settingA cross-sectional study with multistage, stratified cluster sampling...

IDOL gene variant is associated with hyperlipidemia in Han population in Xinjiang, China

Hyperlipidemia is one of the main risk factors that contributed to atherosclerosis and coronary artery disease (CAD). In the present study, our objective was to explore whether some genetic variants of human IDOL gene were associated with hyperlipidemia among Han population in Xinjiang, China. We designed a case–control study. A total of 1,172 subjects (588 diagnosed hyperlipidemia cases and 584 healthy controls) of Chinese Han were recruited. We genotyped three SNPs (rs9370867, rs909562, and rs2072783) of IDOL gene in all subjects by using the improved multiplex ligation detection reaction (iMLDR) method. Our study demonstrated that the distribution of the genotypes, the dominant model (AA vs GG + GA), and the overdominant model (AA + GG vs GA) of the rs9370867 SNP had significant differences between the case group and controls (all P < 0.001). For rs909562 and rs2072783, the distribution of the genotypes, the recessive model (AA + GA vs GG) showed significant differences between the case subjects and controls (P = 0.002, P = 0.007 and P = 0.045, P = 0.02, respectively). After multivariate adjustment for several confounders, the rs9370867 SNP is still an independent risk factor for hyperlipidemia [odds ratio (OR) = 1.380, 95% confidence interval (CI) = 1.201–1.586, P < 0.001]. The rs9370867 of human IDOL gene was associated with hyperlipidemia in Han population.

CYP2C19, PON1, and ABCB1 gene polymorphisms in Han and Uygur populations with coronary artery disease in Northwestern Xinjiang, China, From 2014 Through 2019.

The morbidity of coronary artery disease (CAD) in the Uygur population of Xinjiang was much higher than the national average. Clopidogrel is the most commonly used medication worldwide in dual antiplatelet therapy for CAD, and the response of clopidogrel is affected by CYP2C19, PON1, and ABCB1 genetic polymorphisms. The distribution of CYP2C19∗17, ABCB1, and PON1 genetic polymorphisms in Han and Uygur populations with CAD of Xinjiang has not been investigated.This study aimed to investigate the frequencies of CYP2C19, PON1, and ABCB1 genetic polymorphisms, and to identify the metabolizer phenotype of CYP2C19 in Han and Uygur populations with CAD in Northwestern Xinjiang, China. We identified 602 Han and 527 Uygur patients from 2014 through 2019 and studied genotypes for selected allele polymorphisms using sequencing by hybridization.There were significantly different allele frequencies and genotype frequencies between the 2 ethnic groups in terms of CYP2C19∗2, ∗3, ∗17, ABCB1 and PON1, (P < .05). For CYP2C19∗17, the frequency of TT genotype was 2.5% in Uygur patients, but it was undetectable in Han patients. In both the intermediate and poor metabolizer groups, the genotypes polymorphisms CYP2C19∗2, ∗3, ∗17 were significantly less common in Uygur patients than in Han patients (P < .001). By contrast, the proportion of ultra-metabolizers as defined by CYP2C19∗2, ∗3, ∗17 polymorphisms significantly higher in Uygur patients (18.6%) than in Han patients (1.7%, P < .001). The CYP2C19∗2 frequency was significantly different between Han patients and Han healthy groups (P < .001), while the CYP2C19∗3 frequency was significantly different between Uygur patients and Uygur healthy groups (P < .001).Our study supports the notion of interethnic differences in terms of CYP2C19, PON1, and ABCB1 polymorphisms and CYP2C19 genotype-defined clopidogrel metabolic groups. These finding could provide valuable data and insights into personalized CAD treatment for the Uygur and Han populations in Xinjiang.

NFKB1 gene rs28362491 polymorphism is associated with the susceptibility of acute coronary syndrome.

The acute coronary syndrome (ACS) is a complex disease where genetic and environmental factors are involved. NF-κB, a central regulator of inflammation, is involved in various inflammatory diseases. The aim of the present study was to explore the association between NFKB1 gene rs28362491 (-94ATTGins/del) polymorphism and ACS. A total of 778 ACS patients and 1112 healthy subjects were included in our study. The TaqMan SNP genotyping assays was used to analyze the rs28362491 polymorphism. The lesion extent of coronary artery was assessed by Gensini Score and lesion vessel number in ACS patients. For total and males, the frequencies of the mutant DD genotype and D allele were significantly higher in ACS patients than that in control subjects (total: DD genotype: 18.0 vs 14.1%, P=0.009, D allele: 43.0 vs 37.9%, P=0.002, males: DD genotype: 20.6 vs 15.3%, P=0.042, D allele: 44.2 vs 38.8%, P=0.013). After multivariate logistic regression analysis, we found that individuals with mutant DD genotype had 1.329-fold higher risk of ACS compared with individuals with ID and II genotypes. Moreover, ACS patients with DD genotype were worse stenosis of coronary artery compared with patients carrying II or ID genotype. In conclusion, our study demonstrated that the mutant DD genotype of NFKB1 gene was associated with the risk and severity of ACS in Han population in Xinjiang, northwest of China.

Association between single nucleotide polymorphism of BRCA1-interacting protein C-terminal helicase 1 and early-onset breast cancer in Uygur and Han women in Xinjiang of China

The study investigated the association between single nucleotide polymorphisms (SNPs) of BRCA1-interacting protein C-terminal helicase 1 (BACH1) gene and early-onset breast cancer in Uygur and Han women in Xinjiang. SNPs of BACH1 gene exons were detected by direct sequencing and snapshot technique in 80 Uygur and 80 Han patients with breast cancer and 240 healthy Uygur and 240 healthy Han women (all younger than 40 years old). In Uygur and Han breast cancer patients, the variant C allele of rs4986764 SNP can reduce the risk of breast cancer. The protective effect of this locus is more obvious in Han breast cancer patients without tumor family history (P = 0.001, OR = 0.079). In Uygur breast cancer patients, the GG genotype of rs4986765 (OR = 5.617) and the G genotypes (AG + GG) in the dominant model (OR = 4.254) and the AG of c.587A > G SNP (OR = 7.590) and G genotypes (AG + GG) in the dominant model (OR = 7.590) significantly increased the risk of breast cancer. However, they did not significantly increase the risk of breast cancer in Han population. The present study demonstrates that the rs4986764 mutation of BACH1 gene may reduce the risk of early-onset breast cancer in Uygur and Han populations in Xinjiang. The protective effect was more obvious in Han population without family history of cancer. The change of rs4986765 and c.587A > G sites both increased the risk of breast cancer for Uygur. However, there was no significant correlation with early-onset breast cancer in Han population.

Social behavioral correlates of Kaposi sarcoma-associated herpesvirus infection among Han and Uygur populations in Xinjiang, China.

Kaposi sarcoma-associated herpesvirus (KSHV) is endemic in Xinjiang, China and its prevalence varies considerably across ethnic groups. The current study explored the prevalence and correlates of KSHV infection among Han and Uygur populations in Xinjiang. A cross-sectional study, including 282 Han ethnicity and 312 Uygur, was conducted in Xinjiang, China. All participants underwent face to face questionnaire interview. Plasma samples were collected and screened for KSHV infection using immunofluorescence assay. Univariate and multivariate analyses were conducted to examine the correlates of KSHV seropositivity. The KSHV seroprevalence was 41.6% (95% confidence interval [CI], 37.6-45.6) overall and was higher in the Uygur group (59.9%; 95% CI, 54.3-65.4) than the Han group (21.3%; 95% CI, 16.6-26.5). A significant difference in the geometric mean titer (GMT) of the KSHV antibodies was detected between the Uygur and Han groups (158.2; interquartile range [IQR], 80-320 vs 89.1; IQR, 40-160; P < 0.001). After adjusting for potential confounders, Uygur ethnicity (odds ratios [OR], 5.96; 95% CI, 4.05-8.90), age greater than or equal to 50 years (OR, 1.84; 95% CI, 1.24-2.77), and preference for meat diet (OR, 2.15; 95% CI, 1.05-4.46) were significantly associated with increased odds of KSHV seropositivity. The study demonstrated high prevalence and correlates of KSHV infection in both Han and Uygur populations in Xinjiang, China. There is an urgent need for programmatic adaptation to address primary prevention interventions of KSHV infection in this endemic region.

Differential expression of microRNAs in the normal skin of the Han and Uyghur populations in Xinjiang Province.

In this study, we investigated the expression of microRNAs (miRNAs) in the skin samples from the Han and Uyghur populations in Xinjiang, China. The miRNA levels of the normal skin samples from 10 individuals of Uyghur or Han were tested by microarray and the expression differentiations were compared. Among the 3100 probes for microarray, a total of 247 miRNAs were differentially expressed in the Han versus Uyghur population, including 76 upregulated miRNAs and 171 downregulated miRNAs. The most significantly upregulated miRNAs were miR-141-3p, miR-1915-5p, kshv-miR-K12-2-5p, and miR-222-3p. And the most significantly downregulated miRNAs included miR-1207-3p and miR-625-3p. We have confirmed the upregulation of miR-141-3p and miR-1915-5p by qRT-PCR. There were no statistical correlations in the expression of miR-141-3p or miR-1915-5p with the age or gender within each group. Interestingly, the differentially expressed miRNAs were enriched in some cancer-related pathways, such as p53, mitogen-activated protein kinase, and WNT signal pathways. Collectively, these dysregulated expressions of the miRNAs may provide a better understanding of the differences in the incidence and mortality of skin-related carcinoma between the Uyghur and Han populations in Xinjiang.

Correlation between KLOTHO gene and mild cognitive impairment in the Uygur and Han populations of Xinjiang.

The secretive Klotho protein is an anti-aging regulatory hormone that plays a physiological role in many target organs. The present study aims to investigate the correlation between Klotho gene and mild cognitive impairment (MCI) in Uygur and Han populations in Xinjiang. From July 2008 to April 2014, stratified random multistage cluster sampling was used in combination with the methods of on-site questionnaire and household survey to conduct a cross-sectional MCI investigation on selected Uygur and Han subjects aged over 60 years old in Xinjiang region. 323 Uygur and Han MCI patients were randomly selected and matched with 343 subjects in the normal control group. SNaPshot technique was used to detect the polymorphisms of Klotho gene. A case-control associated analysis was conducted to analyze the genotype and allele frequencies of single nucleotide polymorphisms (SNPs) in the MCI group and the normal control group. The polymorphisms of rs1207568 and rs9536314/rs9527025 loci in Klotho gene were different among MCI populations in Xinjiang, and after group assignments based on ethnic background, the polymorphisms of rs1207568 and rs9536314/rs9527025 loci were associated with the Uygur MCI population and were not relevant to the Han MIC population. The frequencies of mutational alleles of rs9536314/rs9527025 locus in the Uygur population were significantly higher than those in the Han population. The genotype and allele frequencies of rs1207568 locus in the Uygur and Han populations were similar. The polymorphisms of rs1207568 and rs9536314/rs9527025 loci in Klotho gene may be associated with the Uygur MCI population in Xinjiang.

Population genetic analysis of the Globalfiler STR loci in 3032 individuals from the Altay Han population of Xinjiang in northwest China.

The genetic polymorphisms of 21 autosomal short tandem repeat (STR) loci included in the GlobalFiler™ PCR Amplification Kit were evaluated in 3032 unrelated individuals Altay Han of Xinjiang, northwest China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. SE33 showed the greatest power of discrimination in Altay Han population, whereas TPOX showed the lowest. The combined discrimination power and probability of excluding paternity of the 21 autosomal STR loci were 0.999999999999999999999999889838 and 0.999999996664704, respectively. Both pairwise genetic distance and phylogenetic methods indicated that the Altay Han had the closest genetic relationship with the Han origin and Hui populations. The present results revealed that the GlobalFiler system had a high level of polymorphism in Altay Han population and hence could be a powerful tool for forensic application and population genetic study.

The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang

BackgroundThe present study is aimed to evaluate difference of lipid metabolism related gene single nucleotide polymorphisms (SNPs) with ischemic stroke (IS) in Han and Uighur population of Xinjiang, China.MethodsFour hundred eight patients with ischemic stroke and 347 unrelated healthy individuals of age and sex matched were genotyped for Apolipoprotein A5 (ApoA5), lipoprotein lipase (LPL), Cholesteryl ester transfer protein (CETP) and low-density lipoprotein receptor (LDL-R) genes. Their mutation difference was analyzed by SNaP shot techniques. GeneMapper4.1 SPSS20.0 software was used for data management and analysis. Using a single locus analysis, the distribution difference of genotype loci in ischemic stroke cases and controls were detected to assess the genetic risk factors of ischemic stroke.ResultsSignificance differences of genotype distribution in ischemic stroke cases and controls were observed in LDLR rs688 in Han and Uighur population in recessive model from analysis of single gene locus. It also was found that dramatic difference of triglyceride (TG) of LPL rs328 and systolic blood pressure in CETP rs708277 of total population. In binary logistic regression analysis of total studied population, ischemic stroke was observed significantly associated with LDLR rs688 both addictive model (TT/CC, adjusted OR = 1.47, 95% CI = 1.04–2.07) and recessive model (TT/CT + CC, adjusted Odds ratio (OR) = 2.66, 95% Confidence Interval (CI) = 1.37–5.14). In Han population, ischemic stroke was observed significantly associated with rs688 both in addictive model (TT/CC, adjusted OR = 3.27, 95% CI = 1.06–10.05). In Uighur population, no significant association was found between gene polymorphisms and the risk of ischemic stroke. Combined analysis of multiple gene and loci, interaction effects of LDLR rs688 C/T, ApoA5 rs662799 A/G and CETP rs708272 C/T denoted a significant influence on IS susceptibility.ConclusionSingle nucleotide polymorphisms of lipid metabolism relative gene were significantly associated with the morbidity of ischemic stroke in Han population. The interaction effects of rs688 C/T with ApoA5 rs662799 A/G and CETP rs708272 C/T promoted the occurrence of IS.

Prevalence of valvular heart diseases and associated risk factors in Han, Uygur and Kazak population in Xinjiang, China.

BackgroundValvular heart diseases (VHD) is very common in clinical practice and has became the subject of growing attention in the field of cardiovascular medicine. Our aim was to assess the prevalence and correlates of VHD in the general population in Xinjiang, China.MethodsUsing a 4-stage stratified cluster random sampling method, a total of 14618 participants were recruited in the Cardiovascular Risk Survey (CRS) study. The participants’ personal information, medical history were assessed by questionnaire. VHD was diagnosed by transthoracic echocardiography. We carried out the statistical analysis utilizing SPSS Statistics version 19.0.ResultsIn the total study group, VHD was observed in 1397 (9.65%) individuals. The prevalence rates of VHD in Han, Uygur and Kazak group are 13.51%, 2.71% and 12.29% respectively. The prevalence rates of VHD increased strikingly with age (all P < 0.001). The results of multinomial regression analysis indicated that VHD were related to age in Han group, to age smoking and hypertension in Uygur group, to age and hypertension in Kazak group.ConclusionOur research provides a unique prevalence rate of VHD in Xinjiang natural population. The result suggests that VHD are notably common in this population (9.65%) and increase with age. There exists significant difference of prevalence rate between ethnics. The main risk factors of VHD are age, hypertension and smoking. Valvular heart diseases should be regarded as a serious and growing public-health problem.