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Summary: What is known and objective: Postmenopausal osteoporosis is becoming an urgent health problem in China. A once‐yearly infusion of zoledronic acid can be very effective for the treatment of postmenopausal osteoporosis in significantly reducing the risk of hip, vertebral and other fractures. This study aimed to investigate zoledronic acid treatment on postmenopausal osteoporosis in Uighur and Han patients in Xinjiang province, China. Methods: A self‐controlled and prospective trial design was adopted. A total of 155 Uighur and 151 Han patients were enrolled. All subjects received an intravenous infusion of zoledronic acid (5 mg) at day 0 (baseline) and at 12 months. Patients were followed up for 24 months; the bone mineral density (BMD) of the left total hip and L1–L4 vertebrae was measured at day 0 and at 24 months. Results and discussion: BMD was significantly higher after zoledronic acid treatment compared with baseline levels in all patients, as assessed at 24 months. Moreover, the BMD of left total hip increased with 2.7% in the Han group was significantly higher than that of the Uighur group with 1.4% (left total hip, 95% CI: 2.6% to 2.8% in Han group vs 1.2% to 1.4% in Uighur group). The BMD of L1–L4 vertebrae increased with 2.2% in the Han group was significantly higher than that of the Uighur group with 1.6% (L1–L4 vertebrae, 95% CI, 2.0% to 2.4% in Han group vs 1.4% to 1.7% in Uighur group); P < .001. There was no significant difference in drug‐related adverse effects between the two groups (P > .05). What is new and conclusion: Zoledronic acid appears to be more effective in postmenopausal osteoporosis in Han than in Uighur subjects. The reasons for this require further investigation. [ABSTRACT FROM AUTHOR]

Abstract: Aim: Previous evidence has found that some single nucleotide polymorphisms (SNPs) in cardiomyopathy‐associated 5 gene (CMYA5) were associated with schizophrenia in the Caucasian and Chinese Han populations. In this study, we aimed to investigate the relationship between CMYA5 gene polymorphisms and schizophrenia in Chinese Uygur population and perform a meta‐analysis to synthetically analyse the association of CMYA5 gene polymorphisms with schizophrenia in Asian populations. Method: We retrospectively analysed 985 schizophrenia cases and 1123 healthy controls in Chinese Uygur population. Four SNPs (rs259127, rs3828611, rs4704591 and rs6883197) of CMYA5 were genotyped using TaqMan SNP genotyping assay. Meta‐analysis was conducted across Asian studies by Review Manager 5.2. Results: Results showed no significant difference in either allelic or genotypic frequency in four SNPs of the CMYA5 gene between cases and controls (P > 0.05). However, the age of onset and the PANSS positive‐factor subscale score were significantly lower in schizophrenia patients with the A/A genotype of rs6883197 than those with A/G and G/G genotypes (P < 0.05). In addition, the meta‐analysis showed the significant association of rs3828611 with risk of schizophrenia (P = 0.03, OR = 0.92, 95% CI: 0.91–0.99). Conclusions: Our results support the association between CMYA5 rs6883197 and schizophrenia in Chinese Uygur population. Meta‐analysis demonstrated that rs3828611 was significantly associated with schizophrenia in Asian population. Genetic heterogeneity among populations may be the main reason of results conflict between studies. In conclusion, association between CMYA5 gene polymorphisms and schizophrenia was confirmed in Asian population. [ABSTRACT FROM AUTHOR]

Background: Schizophrenia (SCZ) is a common mental disorder with high heritability, and genetic factors play a major role in the pathogenesis. Recent researches indicated that the CACNAH involved in calcium channels probably affect the potential pathogenesis of SCZ. Results: In this study, we attempted to investigate whether the CACNAH gene contributes the risk to SCZ in the Uighur Chinese population, and performed a case-control study involving 985 patient samples and 1218 normal controls to analyze nine SNPs within the CACNAH gene. Among these sites, six SNPs were significantly associated with SCZ in the allele distribution: rs132575 (adjusted Pallele = 0.039, OR = 1.159), rs713860 (adjusted Pallele = 0.039, OR = 0.792), rs738168 (adjusted Pallele = 0.039, OR = 0.785), rs136805 (adjusted Pallele = 0.014, OR = 1.212), rs5757760 (adjusted Pallele = 0.042, OR = 0.873) and rs5750871 (adjusted Pallele = 0.039, OR = 0.859). In addition, two SNPs turned to be risk factors for SCZ not only in the allele distribution, but also in the genotype distribution: rs132575 (adjusted Pgenotype = 0.037) and rs136805 (adjusted Pgenotype = 0.037). Conclusions: Overall, the present study provided evidence that significant association exists between the CACNA1I gene and SCZ in the Uighur Chinese population, subsequent validation of functional analysis and genetic association studies are needed to further extend this study. [ABSTRACT FROM AUTHOR]

Background: This study aims at determining the correlation between CpG methylation in human papillomavirus (HPV)-16 L1 and the persistent infections and development of cervical carcinoma in Uyghur women.Methods: Among the 4,364 Uyghur women, specimens were collected from 145 (3.3%) HPV-16 single infected cases, which were divided into 5 groups: transient infection (n = 32), persistent infection (n = 21, 12 months), cervical intraepithelial neoplasia (CIN) grade 1 (CIN1, n = 21), CIN2-3 (n = 33) and invasive cervical cancer (n = 38) groups. Methylation level in HPV-16 L1 was quantified by pyrosequencing, and values in the prediction and diagnosis of CIN2+ lesions were evaluated with receiver operating characteristic curves.Results: With the progression of the disease, increased methylation was detected at 13 CpG sites, and a high methylation level was associated with the risk of CIN2+. The strongest related site was 6650 (OR 9.89, 95% CI 3.57-27.44). The area under ROC curve (AUC) of methylation at each CpG site to differentiate between CIN2+ and Conclusions: These results indicate that the methylation of CpG sites in HPV-16 L1 has a great value in contributing to the prediction of HPV-persistent infection and cervical precancerous progression. [ABSTRACT FROM AUTHOR]

Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology.WES analysis was undertaken on two individuals from a large Uygur EPPK pedigree whose disease locus mapped to 17q21.2 (chr:38994621–39893408) following previous linkage analysis. KRT9 (NM_000226.3:c.487C>T, p.Arg163Trp), and KRT15 (XM_005257346.1:c.212G>T, XP_005257403.1:p.Gly71Val) located in this region, have been identified as two candidate causative genes for EPPK in the Uygur family. Sanger sequencing was conducted on this region in other affected individuals (n = 38) from this family, non-affected individuals (n = 56) from this family and 100 unrelated controls. The missense mutation KRT9 c.487C>T, identified in this large Uygur population, is a potential causative mutation. To date, EPPK has no effective therapy, and siRNA is a potential avenue for EPPK therapy. To investigate this, full-length wild-type Keratin9 ( KRT9 ; pKRT9-WT) and p.Arg163Trp (pKRT9-R163W) were then transfected into HaCaT cells. The small interfering RNAs targeting the KRT9 R163W mutant and wildtype KRT9 were transfected into HaCaT cells, and total RNA isolated at 72 h post-transfection. Quantitative polymerase chain reaction and western blotting were used to analyse the effects of knock-down on KRT9 mRNA and protein levels, respectively. siRNA was shown to specifically inhibit mutant KRT9 mRNA and protein expression (p < 0.01, with 95% confidence limits). Our study suggests that KRT9 is a causal gene for EPPK. This information is helpful for understanding the pathogenesis of EPPK in the Uygur population and raises the possibility of designing a novel siRNA treatment strategy for this population of EPPK patients. [ABSTRACT FROM AUTHOR]

The study aimed to investigate the state of human papillomavirus (HPV) infection in patients with cervical cancer in the Uyghur population in China and to identify miRNA as biomarker for cervical cancer and HPV infection. We also performed genotyping to determine the variation in the types of HPV. Using microRNA (miRNA) microarray technology, differential miRNA expression between HPV-infected cervical cancer and uninfected normal cervical tissues was determined; the microarray results were verified by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) using 20 samples of both the tissues. The infection rate of HPV in patients with cervical cancer was 96.7% (29 of 30), and the main subtype identified was HPV16 (29 of 29). HPV16 integration assay demonstrated that the majority of infectious cases were of the integrated form (26 of 29). Analysis of 140 miRNAs demonstrated greater than two-fold change in miRNA expression in HPV-infected cervical cancer tissue as compared to that in uninfected cervical tissue. The qRT-PCR analysis verified that the expression of miR-15a-5p, miR-17-5p, miR-20a-5p, miR-21-5p, miR-96, miR-106b-5p, and miR-3653 was higher, while the expression of miR-497-5p was lower in cancer tissues than in normal tissues. The results demonstrate significant changes in miRNA expression in cervical cancer tissues associated with HPV infection as compared to that in normal tissues. These molecular markers may be useful for an early diagnosis and prognosis of cervical cancer in specific human populations. [ABSTRACT FROM AUTHOR]

Several genome-wide association studies (GWAS) have shown that human leukocyte antigen (HLA) DP/DQ gene polymorphisms are associated with susceptibility to chronic hepatitis B virus (HBV) infection. We clarified the roles of the HLA-DP/DQ gene in HBV infection in different nationalities. Three single nucleotide polymorphisms (SNPs) in HLA-DP (rs9277471, rs9277535 and rs9277542) and the SNP rs9272346 in HLA-DQ were studied. In total, 779 patients were recruited to this study, including 400 Chinese Han and 399 Uygurs. The rs9277535 variant genotypes were directly associated with HBV persistence compared to healthy controls in an additive model of the Chinese Han population (odds ratio [OR] = 1.88, 95% confidence interval [CI] = 1.03–3.41, P = 0.040), and in a recessive model of the Chinese female population (OR = 2.02, 95% CI = 1.26–3.24, P = 0.003). In addition, rs9277471 and rs9277542 variant genotypes significantly decreased the risk of HBV infection compared to healthy controls in an additive model of the Chinese Han population (OR = 0.53, 95% CI = 0.29–0.98, P = 0.042; OR = 0.53, 95% CI = 0.29–0.97, P = 0.039) and in a dominant model of the Chinese female population (OR = 0.50, 95% CI = 0.31–0.80, P = 0.004; OR = 0.49, 95% CI = 0.31–0.79, P = 0.003). The GG genotype of rs9277346 was associated with HBV infection in the Chinese Han population (additive model: OR = 0.38, 95%CI = 017–0.82, P = 0.014; recessive model: OR = 0.41, 95% CI = 0.19–0.86, P = 0.019) and in males (additive model: OR = 0.31, 95% CI = 0.14–0.65, P = 0.002; dominant model: OR = 0.65, 95% CI = 0.43–0.97, P = 0.034; recessive model: OR = 0.36, 95% CI = 0.18–0.73, P = 0.005). In addition, allele G of rs9277346 was marginally related to a reduction in risk for HBV infection in the Uygur population. Our study suggests that HLA-DP/DQ polymorphisms can affect susceptibility and resistance to HBV infection in Chinese populations, and are possibly linked to race and sex. [ABSTRACT FROM AUTHOR]

An association between polymorphisms in the sodium taurocholate cotransporting polypeptide (NTCP) and the natural course of hepatitis B virus (HBV) infection in the Chinese Han population has been noted. However, it is not known whether these polymorphisms are associated with the risk of developing chronic HBV infection in other racial or ethnic populations. Accordingly, we conducted a candidate single nucleotide polymorphism (SNP) association study in Tibetan and Uygur HBV-infected patients. A total of 1302 subjects including 871 Tibetans and 431 Uygurs were recruited. According to their serological and clinical characteristics, each ethnic group was divided into two groups comprising spontaneous clearance individuals and persistently infected patients. Three SNPs were genotyped by a high resolution melting curve methodology. Among the SNPs, rs2296651 exhibited a minor allele frequency of < 0.01. The frequency of allele A at rs4646287 was much higher in Tibetans (9.4% for Tibetans and 4.6% for Uygurs, p < 0.001) than in Uygurs, but the frequency of allele A at rs7154439 was the opposite (15.7% for Tibetans and 20.5% for Uygurs, p = 0.002). Irrespective of race, no significant differences in the frequency distributions of the three SNP alleles or genotypes were observed between the case and clearance groups. Moreover, none of the NTCP haplotypes were statistically different between the two groups. Data from the Tibetan patients could be grouped by HBeAg status, viral load and HBV genotype; however, no significant differences were found in the SNP genotype distribution for each characteristic. In conclusion, the NTCP polymorphisms we identified tended to be ethnicity-dependent. For Tibetans and Uygurs, no association of the three SNPs (rs7154439, rs4646287 and rs2296651) and their haplotypes with HBV chronicity was observed. Examination of SNPs in NTCP for their specific associations with the course of HBV infection in other ethnic minority groups is now required. [ABSTRACT FROM AUTHOR]

In this paper, the researchers collected visceral adipose tissue from the Uygur population, which were divided into two groups: the normal control group (NC, n=50, 18.0 kg/m2 ≤ BMI ≤ 23.9 kg/m2) and the obese group (OB, n=45, BMI ≥ 28 kg/m2), and then use real-time PCR to detect the mRNA expression level of key genes involved in inflammation signaling pathway. The findings suggest that, in obese status, the lower expression level of A2bAR, KLF4, and KLF15 of visceral adipose tissue may correlate with obese-dyslipidemia induced inflammation in Uygur population. [ABSTRACT FROM AUTHOR]

In this paper, the researchers collected visceral adipose tissue from the Uygur population, which were divided into two groups: the normal control group (NC, n=50, 18.0 kg/m2 ≤ BMI ≤ 23.9 kg/m2) and the obese group (OB, n=45, BMI ≥ 28 kg/m2), and then use real-time PCR to detect the mRNA expression level of key genes involved in inflammation signaling pathway. The findings suggest that, in obese status, the lower expression level of A2bAR, KLF4, and KLF15 of visceral adipose tissue may correlate with obese-dyslipidemia induced inflammation in Uygur population. [ABSTRACT FROM AUTHOR]

PPARδ belongs to a receptor family of ligand-activated transcription factors involved in the regulation of inflammation, cellular glucose uptake, protection against atherosclerosis and endothelial cell function. Through these effects, they might be involved with the ischemic stroke (IS). We recruited 200 subjects (100 IS patients diagnosed by CTs or/and magnetic resonance imaging (MRI) and 100 normal healthy controls from Chinese Uyghur population) to assess the nature of the functional polymorphisms of PPARδ + 294T/C and any links with IS in this unique population. We found that the C allele of the PPARδ + 294T/C polymorphism was more common in controls than IS subjects in the Uyghur population. C allele carriage may be associated with an increased risk of IS in Uyghurs with a strong trend (OR 1.79, 95% CI: 1.11–2.89). Additionally, the PPARδ CC and TC genotypes were less frequent in Uyghur population than in Han population. Our population and ethnic-based study demonstrates that the PPARδ + 294C allele maybe an independent risk of IS in Chinese Uyghurs especially in the male (OR 1.99, 95%CI:1.06–3.72) and obesity populations (OR 2.36, 95%CI: 1.19–4.67), which were consistent with Tunisian Population. Moreover, total cholesterol, fasting blood glucose, waist-to-hip ratio, hypertension, history of heart diseases, and negative events may increase the risk of IS, with a trend for HDL to be a protective factor for IS in the Uyghur population. However, larger populations are warranted to validate our findings. [ABSTRACT FROM AUTHOR]

Substantial evidence suggests that type 2 diabetes mellitus (T2DM) is a multi-factorial disease with a strong genetic component. A list of genetic susceptibility loci in populations of European and Asian ancestry has been established in the literature. Little is known on the inter-ethnic contribution of such established functional polymorphic variants. We performed a case-control study to explore the genetic susceptibility of 16 selected T2DM-related SNPs in a cohort of 102 Uyghur objects (51 cases and 51 controls). Three of the 16 SNPs showed significant association with T2DM in the Uyghur population. There were significant differences between the T2DM and control groups in frequencies of the risk allelic distributions of rs7754840 ( CDKAL1) ( p=0.014), rs864745 ( JAZF1) ( p=0.032), and rs35767 ( IGF1) ( p=0.044). Carriers of rs7754840-C, rs35767-A, and rs864745-C risk alleles had a 2.32-fold [OR (95% CI): 1.19-4.54], 2.06-fold [OR (95% CI): 1.02-4.17], 0.48-fold [OR (95% CI): 0.24-0.94] increased risk for T2DM, respectively. The cumulative risk allelic scores of these 16 SNPs differed significantly between the T2DM patients and the controls [17.1±8.1 vs. 15.4±7.3; OR (95%CI): 1.27(1.07-1.50), p=0.007]. This is the first study to evaluate genomic variation at 16 SNPs in respective T2DM candidate genes for the Uyghur population compared with other ethnic groups. The SNP rs7754840 in CDKAL1, rs864745 in JAZF1, and rs35767 in IGF1 might serve as potential susceptibility loci for T2DM in Uyghurs. We suggest a broader capture and study of the world populations, including who that are hitherto understudied, are essential for a comprehensive understanding of the genetic/genomic basis of T2DM. [ABSTRACT FROM AUTHOR]

Background: Cervical cancer is one of the commonest causes of cancer-related deaths worldwide. The prevalence rate of cervical cancer in Uyghur women in Xinjiang Autonomous Region of China has been remarkably higher than the ethnic groups living in the same region. This study aimed to assess the knowledge level and attitude of cervical cancer and its issues among the Uyghur women in Xinjiang province of China. Methods: A cross-sectional interview-based survey of 5,000 Uyghur women was developed from 2013 to 2014 in Xinjiang autonomous region, to assess their knowledge and perception of cervical cancer and its issues. The collection of data was based on the questionnaire items. Results: According to the questionnaire items, we collected a data for 5,000 participants. A very small proportion of participants had heard of the cervical cancer, human papillomavirus (HPV), and HPV vaccine, that is, 27.0%, 13.0% and, 6.0%, respectively. According to the demographic characteristics, women aged 31 to 40 years were more aware of the knowledge of cervical cancer (32.9%), HPV (17.8%), and HPV vaccine (9.1%), and women with undergraduate or higher educational level had more knowledge of cervical cancer (30.0%), HPV (21.0%), and HPV vaccine (9.7%). Conclusions: From our study, we concluded that Uyghur women need more information about cervical cancer and its risk factors. Lack of the related knowledge about cervical cancer may be one of the important factors for high incidence rate of cervical cancer in Uyghur population. In order to reduce the incidence rate and mortality of cervical cancer in Uyghur women and to make extensive health education to raise awareness of cervical cancer and HPV is strongly needed than prophylactic vaccination. [ABSTRACT FROM AUTHOR]

Objective: To explore the relationship between the endothelial lipase ( EL) gene promoter −384A/C polymorphism and acute coronary syndrome (ACS) and lipid status in elderly Uygur patients in Xinjiang. Methods: The polymerase chain reaction-restriction fragment length polymorphism method was used to detect the EL gene promoter −384A/C genotype in 341 cases of elderly patients with ACS and 380 healthy subjects. Results: In an elderly Chinese Han population, the EL-384A/C genotype and allele frequency distribution were significantly different between the ACS group and the control group ( p<0.05); the frequency of the CC genotype in the ACS group was significantly higher than that in the control group ( p<0.05). After adjusting for gender, age, diabetes, hypertension, smoking, hyperlipidemia, and other cardiovascular risk factors, the difference remains statistically significant ( p<0.05). In the ACS group, C allele carriers had significantly higher serum triglycerides, total cholesterol, and low-density lipoprotein cholesterol concentrations compared to AA genotypes (all p<0.05). Conclusion: EL-384A/C polymorphism was significantly associated with the ACS and lipids profile in an elderly Uygur population in Xinjiang. [ABSTRACT FROM AUTHOR]

Objective: This study is to determine if Adenovirus type 36 (Ad36) infection is related to macrophage infiltration in the obese group and non-obese group and the related molecular mechanisms. Methods: Ninety obesity patients and 95 non-obesity Uygur individuals were enrolled in this study. CD68 levels in abdominal subcutaneous and omental adipose tissues were detected by immunohistochemistry. The cytokine expression levels of adiponectin (APMI) and visfatin in serum were measured by enzyme-linked immunosorbent assay. Infection of 3T3-L1 cells with Ad36 was performed. Real-time PCR was performed to determine expression levels of APMI and Visfatin genes in the 3T3-L1 preadipocytes infected with Ad36. Results: In the obese individuals infected with Ad36, the expression levels of adiponectin and visfatin in serum was elevated. For the individuals infected with Ad36, the macrophage infiltration (as indicated by CD68 level) in the obese group was also significantly higher than that in the non-obese group (P < 0.05) in both abdominal subcutaneous and omental adipose tissues. The real-time PCR results indicated that APMI mRNA levels and Visfatin mRNA levels in Ad36 infected cells were significantly increased. Conclusions: Ad36 infection may be a factor related with macrophage infiltration in adipose tissues of the obese patients. The APMI and Visfatin genes may be involved in the mechanism underlying the effect of Ad36 infection on the obese patients. Virtual Slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1849614638119816 [ABSTRACT FROM AUTHOR]

Objective To investigate the correlation of endothelial function variation with pulse pressure index in Uygur acute coronary syndrome patients in Xinjiang. Methods Uygur patients were divided into acute coronary syndrome group (n=208) and control group (n=157) according to their Coronary angiography results. Height, weight and blood pressure were measured on admission and basic medical history were recorded. Fasting blood glucose (FBG), three acyl glycerin (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL - C), low density lipoprotein cholesterol (LDL - C) were examined using fasting venous blood; Plasma Coagulation Factor VIII (CF VIII) and von Willebrand factor (vWF) were examined using ELISA. Results There are no statistical difference in age, gender, history of hypertension, diabetes history, history of smoking, drinking, body mass index, PPI, HDL - C and FBG between two groups. The systolic pressure, diastolic blood pressure, pulse pressure, TG, TC, LDL - C and vWF, CF VIII levels in acute coronary syndrome group were higher than those in the control group (all P < 0.05). The levels of plasma vWF and CFVIII were positively correlated with pulse pressure and PPI, it also was positively correlated between the levels of plasma vWF and CFVIII (P < 0.01). Conclusion The endothelial function was significantly impaired in Xinjiang Uygur patients with acute coronary syndromes, and vascular endothelial damage was positively correlated with pulse pressure and PPI. The pulse pressure and PPI can be used to evaluate the vascular endothelial function indirectly. [ABSTRACT FROM AUTHOR]