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The objectives of this study were to investigate the composition of gut microbiota and its relationship with bone loss in the Uyghur osteopenia population, identify potential disease-related taxa and collect information for the prevention and treatment of osteopenia in different people by regulating gut microbiota. We selected Uyghur residents, measured their heel BMD, collected faeces and general information, grouped them by BMD level, obtained faecal 16S rRNA sequences, and compared and analysed the differences between the groups. This study showed that the numbers of OTUs and species in the gut microbiota in the osteopenia group were higher than those in the control. At the phylum level, Erysipelotrichia was more abundant in the osteopenia group. At the genus level, Phascolarctobacterium was less abundant, and Ruminiclostridium_5 was more abundant in the osteopenia group compared to the control. Phascolarctobacterium and Z-score were positively correlated, and Ruminiclostridium_5 was negatively correlated with T and Z score. The different composition of the gut microbiota in Uyghur osteopenia patients and controls found in this study fills a knowledge gap in this ethnic group. The relationship between Uyghur osteopenia and BMD-associated bacterial genera deserves further exploration., (© 2024. The Author(s).)

Pseudoexfoliation syndrome (PEX) is characterized by the deposition of fibrous pseudoexfoliation material (PEXM) in the eye, and secondary glaucoma associated with this syndrome has a faster and more severe clinical course. The incidence of PEX and pseudoexfoliative glaucoma (PEXG) exhibits ethnic clustering; however, few proteomic studies related to PEX and PEXG have been conducted in Asian populations. Therefore, we aimed to conduct proteomic analysis on the aqueous humor (AH) obtained from Uyghur patients with cataracts, those with PEX and cataracts, and those with PEXG and cataracts to better understand the molecular mechanisms of the disease and identify its potential biomarkers. To this end, AH was collected from patients with cataracts (n = 10, control group), PEX with cataracts (n = 10, PEX group), and PEXG with cataracts (n = 10, PEXG group) during phacoemulsification. Label-free quantitative proteomic techniques combined with bioinformatics were used to identify and analyze differentially expressed proteins (DEPs) in the AH of PEX and PEXG groups. Then, independent AH samples (n = 12, each group) were collected to validate DEPs by enzyme-linked immunosorbent assay (ELISA). The PEX group exhibited 25 DEPs, while the PEXG group showed 44 DEPs, both compared to the control group. Subsequently, we found three newly identified proteins in both PEX and PEXG groups, wherein FRAS1-related extracellular matrix protein 2 (FREM2) and osteoclast-associated receptor (OSCAR) exhibited downregulation, whereas coagulation Factor IX (F9) displayed upregulation. Bioinformatics analysis suggested that extracellular matrix interactions, abnormal blood-derived proteins, and lysosomes were mainly involved in the process of PEX and PEXG, and the PPI network further revealed F9 may serve as a potential biomarker for both PEX and PEXG. In conclusion, this study provides new information for understanding the proteomics of AH in PEX and PEXG., Competing Interests: Declaration of competing interest The authors declare that they have no competing interests., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: 14 C urea breath test ( 14 C UBT) and immunohistochemical staining (IHC) are widely used for detection Helicobacter pylori ( H. pylori ) infection with different sensitivity, and there is a difference in H. pylori infection rate in Uyghur and Han ethnic groups. Both need large cohort studies to evaluate the differences more accurately., Aim: To analyze the difference between 14 C UBT and IHC for H. pylori detection in Xinjiang Uyghur Autonomous Region and the difference between Uyghur and Han populations., Methods: There were 3944 cases of H. pylori infection detected by both IHC and 14 C UBT at the same time (interval < 1 wk, with sampling site including gastric antrum, selected from 5747 patients). We compared the sensitivity of 14 C UBT and IHC. We also compared 555 pairs of Han/Uyghur cases (completely matched for gender and age) for their H. pylori infection rates. The overall H. pylori infection rate of all 5747 cases and the correlation with other clinicopathological data were also further analyzed. SPSS V23.0 software was used for statistical analysis., Results: The sensitivity was 94.9% for 14 C UBT and 65.1% for IHC, which was a significant difference ( n = 3944, P < 0.001). However, among those cases negative for H. pylori by 14 C UBT (detection value ≤ 100), 4.8% were positive by IHC. Combining both methods, the overall H. pylori infection rate was 48.6% ( n = 5747), and differences in gender, age group, ethnicity and region of residence significantly affected the H. pylori positive rates. According to age group (Han/Uyghur), the positive rates were ≤ 30 years (62.2%/100.0%), 31-40 years (45.2%/85.7%), 41-50 years (47.2%/79.2%), 51-60 years (44.6%/76.1%), 61-70 years (40.9%/68.2%), 71-80 years (41.7%/54.1%) and ≥ 81 years (42.9%/NA). The H. pylori infection rates of Han/Uyghur paired cases were 41.4% and 73.3%, which was a significant difference ( P < 0.001) (555 pairs). H. pylori positivity was significantly related to moderate-severe grade 2-3 chronic/active gastritis and intestinal metaplasia (all P < 0.05)., Conclusion: The sensitivity of 14 C UBT was significantly higher, but combined application can still increase the accuracy. The prevention H. pylori should be emphasized for Uygur and young people., Competing Interests: Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article., (©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.)

Located in central Asia, Xinjiang is characterized as a diverse environment in China, consisting of vast deserts, dotted oases, and high mountains. Due to the combined effect of climate conditions under such a diverse environment, there are large differences in human activities, living styles, and eating habits in farmland and grazing pastures between Xinjiang and other regions of China. This study aimed to investigate the variations and mechanisms of elemental distribution in the hair of Uyghur communities among different ages and genders and under different land use backgrounds in an oasis region in Xinjiang. Hair samples from 524 residents from four traditional farmland areas and two grazing pasture areas in Bai Cheng County in Xinjiang were collected, and the levels of thirteen elements were analyzed. The results indicated that the average levels of Cu, Mg, Mn, Zn, Ni, Co, Pb, Fe, Ca, Cd, Cr, As, and Se in the hair of Uyghur communities were within the background levels of Chinese and global residents' hair. Overall, the levels of elements in the hair of women residents were higher than those of men residents. The levels of elements in the human hair of the middle-aged group were higher than those of child and older-aged groups. Elements Cr and Se in the hair of grazing pastures were higher than those of farmland areas. The levels of Cd, Pb, As, and Zn in the hair of farmland areas were higher than those of grazing pasture areas. The levels of Ca, Mg, Cu, and Fe in the hair of Uyghur communities were higher than those of other ethnic groups, while the toxic elements in the hair of residents in Bai Cheng were lower than those in other regions of China. Middle-aged people were exposed to higher levels of toxic elements in their daily activities compared to elderly and child groups. Also, adult groups need much more nutrients for their growth and intellectual development compared to child and elderly groups. The change in land use from grazing pastures to farmland increased the toxic trace element concentration levels in human hair. The significant differences in the overall concentration levels of elements in human hair among the different ethnic groups and regions can be attributed to the differences in lifestyles, cultural customs, dietary habits, and internal and external exposure routes., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

The study examined the implications of Talmy motion event typology and Slobin's thinking-for-speaking hypothesis for the context of Uyghur-Chinese early successive bilingualism. Uyghur and Chinese represent genetically distant languages (Turkic vs. Sino-Tibetan) that nonetheless share important framing properties in the motion domain, i.e., verb-framing. This study thus aimed to establish how this structural overlap would inform bilingual speakers' construal of motion events. Additionally, it sought to offer an "end state" perspective to a previous study on Uyghur-Chinese child bilinguals and to shed light on issues around the longevity of crosslinguistic influence. Thirty adult Uyghur-Chinese early successive bilinguals were invited to describe a set of voluntary motion events (e.g., "a man runs across the road"). Their verbalizations, alongside those from 24 monolingual Uyghur and 12 monolingual Chinese speakers were systematically analyzed with regard to the kind of linguistic devices used to encode key components of motion (main verb vs. other devices), the frequency with which the components are expressed together (Manner + Path) or separately (Path or Manner) and how they are syntactically packaged. The findings show that the bilinguals' thinking-for-speaking patterns are largely language-specific, with little crosslinguistic influence. A comparison of our findings with previous studies on Uyghur-Chinese child bilinguals revealed no developmental change either in the analyzed aspects of motion descriptions or in patterns of crosslinguistic influence. As such, the findings lend support to accounts that propose crosslinguistic influence to be a developmental phenomenon., Competing Interests: The author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Tusun.)

Background: Type 2 diabetes (T2DM) susceptibility varies among different populations and is affected by gene single nucleotide polymorphism (SNP). Insulin-like growth factor (IGF)-1 gene, which has many SNP loci, is involved in T2DM pathogenesis. However, the relationship of IGF-1 gene polymorphism with T2DM in Uyghur population is less studied., Objective: To investigate the relationship between T2DM susceptibility and polymorphism of IGF-1 gene in Uyghur population of Xinjiang, China., Methods: This study enrolled 220 cases (122 males (55.46%) and 98 females (44.54%); mean age of 53.40 ± 10.94 years) of T2DM patients (T2DM group) and 229 (124 males (54.15%) and 105 females (45.85%); mean age of 51.64 ± 10.48 years) healthy controls (control group). Biochemical indexes were determined. IGF-1 gene polymorphism was analyzed by SNP genotyping., Results: The levels of TG, HDL, LDL, BUN, and Cr were statistically significant between the T2DM group and the control group. In terms of IGF-1 polymorphism, T2DM group had higher frequency of AA genotype (OR = 2.40, 95% CI = 1.19-4.84) and allele A (OR = 1.55, 95% CI = 1.17-2.06) of rs35767 loci, suggesting that rs35767 is related to the occurrence of T2DM. A total of 5 gene interaction models was obtained through analyzing the interaction of 5 SNP loci with the GMDR method. Among them, the two-factor model that included rs35767 locus and rs5742694 locus had statistical difference with a large cross-validation consistency (10/10). The combination of GG/CC, GA/AA, AA/AA, and AA/AC genotype was in high-risk group, whereas the combination of GG/AA, GG/AC, GA/AC and GA/CC genotype was in the low-risk group. The risk of T2DM in the high-risk group was 2.165 times than that of the low-risk group (OR = 2.165, 95% CI = 1.478-3.171)., Conclusion: TG, HDL, LDL, BUN, and Cr are influencing factors of T2DM in Uyghur population. The rs35767 locus of IGF-1 gene may be associated with T2DM in Uyghur population. The high-risk group composing of rs35767 locus and rs5742694 locus has a higher risk of T2DM., (© 2021. The Author(s).)

Background: Living in greener areas may reduce adiposity, but epidemiological evidence on this topic is still inconsistence and limited, especially in rural areas., Methods: We performed a cross-sectional study among 4651 Uyghur adults in rural areas in Xinjiang province, northwestern China, from May to September 2016. We measured residential greenness levels using satellite-derived Normalized Difference Vegetation Index (NDVI) and Soil Adjusted Vegetation Index (SAVI) in 100 m, 300 m, 500 m, and 1000 m buffers around each home address. Body height, weight, and waist circumference were assessed according to recommended guidelines. Data on baseline characteristics and confounders were collected using a questionnaire. We used generalized linear mixed models to estimate the associations of residential greenness with overweight/obesity prevalence and obesity-related anthropometric indices., Results: Higher residential greenness levels were associated with lower waist circumference and body mass index levels, as well as with a lower odds ratio of peripheral overweight/obesity prevalence. No significant association was found for greenness and central obesity prevalence. The associations persisted in magnitude and direction across several sensitivity analyses we performed. Stratified analysis suggested that the associations were generally stronger in older adults than those in younger adults. Additionally, neither air pollutants nor physical activity significantly mediated the associations between greenness and obesity., Conclusions: Our results suggest that higher residential greenness were associated with lower odds of overweight/obesity and lower obesity-related anthropometric indices among rural Uyghur adults in China, especially for older adults., (Copyright © 2021. Published by Elsevier Inc.)

Over 50% prescribed drugs are metabolised by cytochrome P450 3A (CYP3A) and glutathione S-transferase pi (GSTP1) adds a glutathione to the oxidative products by CYP3A, which increases the hydrophilic property of metabolites and facilitates the excretion. Single nucleotide polymorphisms (SNPs) of CYP3A and GSTP1 show a diverse allele and genotype frequencies distribution among the world populations. The present study aimed to investigate the genotype and allele frequency distribution patterns of CYP3A4, CYP3A5, CYP3A7 and GSTP1 polymorphisms among healthy participants in mainland Tibetan, Mongolian, Uyghur, and Han Chinese populations. Blood samples were collected from 842 unrelated healthy subjects (323 Tibetan, 134 Mongolian, 162 Uyghur, and 223 Han) for genotyping analysis. Variant allele frequencies of CYP3A4 rs2242480, CYP3A5 rs776746, CYP3A7 rs2257401, and GSTP1 Ile105Val were observed in Han (0.253, 0.686, 0.312 and 0.188), Tibetan (0.186, 0.819, 0.192 and 0.173), Mongolian (0.198, 0.784, 0.228 and 0.235) and Uyghur (0.179, 0.858, 0.182 and 0.250) respectively. The allele frequency of CYP3A7*1C in Uyghur (0.019) was higher than that in Tibetan (0.002, p < 0.01). There was a strong linkage disequilibrium between CYP3A4 rs2242480, CYP3A5 rs776746, and CYP3A7 rs2257401 among the four ethnic groups. The results might be useful for the precise medication in the Chinese populations., (© 2021 John Wiley & Sons Australia, Ltd.)

Background: Ulcerative colitis (UC) is one of the main subtypes of inflammatory bowel disease (IBD). The incidence of UC in the Xinjiang region is relatively high in China and the manifestations of UC in Uyghur and Han patients are usually differential. This study aimed to identify potential biomarkers of UC., Methods: All miRNA and mRNA were extracted from the tissue samples obtained from participants in Xinjiang. Differential expression analysis was performed on all mRNAs and miRNAs. The target genes of miRNAs were predicted via three databases. The clusterProfiler package was used for GO and KEGG pathway enrichment analysis., Results: Preliminarily, four miRNAs and 15 genes were associated with the differential manifestations of UC in Uyghur and Han patients. Through the co-expression network construction and further screening in more samples, two miRNAs (hsa-miR-141-5p and hsa-miR-378a-5p) and three genes (ARNTL2, CLDN1 and SLC6A14) were found to be more crucial. These 15 genes were enriched in tight junction, NF-κB, and several other pathways., Conclusion: Two miRNAs (hsa-miR-141-5p and hsa-miR-378a-5p) and three genes (ARNTL2, CLDN1, and SLC6A14) associated with the differential manifestations of UC in Uyghur and Han population were identified, which were potential biomarkers., Competing Interests: The authors declare that they have no conflicts of interest in this work., (© 2021 Lu et al.)

The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors almost 50 ethnic groups including the Uyghur (UGR: 45.84%), Han (HAN: 40.48%), Kazakh (KZK: 6.50%), Hui (HUI: 4.51%), Kyrgyz (KGZ: 0.86%), Mongol (MGL: 0.81%), Manchu (MCH: 0.11%), and Uzbek (UZK: 0.066%), which make it one of the most colorful regions with abundant cultural and genetic diversities. In our previous study, we established allelic frequency databases for 14 autosomal short tandem repeats (STRs) for four minority populations from XUARC (MCH, KGZ, MGL, and UZK) using the AmpFlSTR® Identifiler PCR Amplification Kit. In this study, we genotyped 2,121 samples using the GoldenEye™ 20A Kit (Beijing PeopleSpot Inc., Beijing, China) amplifying 19 autosomal STR loci for four major ethnic groups (UGR, HAN, KZK, and HUI). These groups make up 97.33% of the total XUARC population. The total number of alleles for all the 19 STRs in these populations ranged from 232 (HAN) to 224 (KZK). We did not observe any departures from the Hardy-Weinberg equilibrium (HWE) in these populations after sequential Bonferroni correction. We did find minimal departure from linkage equilibrium (LE) for a small number of pairwise combinations of loci. The match probabilities for the different populations ranged from 1 in 1.66 × 10 23 (HAN) to 6.05 × 10 24 (HUI), the combined power of exclusion ranged from 0.999 999 988 (HUI) to 0.999 999 993 (UGR), and the combined power of discrimination ranged from 0.999 999 999 999 999 999 999 983 (HAN) to 0.999 999 999 999 999 999 999 997 (UGR). Genetic distances, principal component analysis (PCA), STRUCTURE analysis, and the phylogenetic tree showed that genetic affinity among studied populations is consistent with linguistic, ethnic, and geographical classifications., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor and the reviewer MS declared a past co-authorship with the authors AD, CCW, DCDM at the time of review., (Copyright © 2021 Adnan, Anwar, Simayijiang, Farrukh, Hadi, Wang and Xuan.)

Understanding the micro-coevolution of the human gut microbiome with host genetics is challenging but essential in both evolutionary and medical studies. To gain insight into the interactions between host genetic variation and the gut microbiome, we analyzed both the human genome and gut microbiome collected from a cohort of 190 students in the same boarding college and representing 3 ethnic groups, Uyghur, Kazakh, and Han Chinese. We found that differences in gut microbiome were greater between genetically distinct ethnic groups than those genetically closely related ones in taxonomic composition, functional composition, enterotype stratification, and microbiome genetic differentiation. We also observed considerable correlations between host genetic variants and the abundance of a subset of gut microbial species. Notably, interactions between gut microbiome species and host genetic variants might have coordinated effects on specific human phenotypes. Bacteroides ovatus, previously reported to modulate intestinal immunity, is significantly correlated with the host genetic variant rs12899811 (meta-P = 5.55 × 10 -5 ), which regulates the VPS33B expression in the colon, acting as a tumor suppressor of colorectal cancer. These results advance our understanding of the micro-coevolution of the human gut microbiome and their interactive effects with host genetic variation on phenotypic diversity., Competing Interests: Conflict of interest The authors declare that they have no conflict of interest., (Copyright © 2021 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.)

Population admixture results in genome-wide combinations of genetic variants derived from different ancestral populations of distinct ancestry, thus providing a unique opportunity for understanding the genetic determinants of phenotypic variation in humans. Here, we used whole-genome sequencing of 92 individuals with high coverage (30-60×) to systematically investigate genomic diversity in the Uyghurs living in Xinjiang, China (XJU), an admixed population of both European-like and East-Asian-like ancestry. The XJU population shows greater genetic diversity, especially a higher proportion of rare variants, compared with their ancestral source populations, corresponding to greater phenotypic diversity of XJU. Admixture-induced functional variants in EDAR were associated with the diversity of facial morphology in XJU. Interestingly, the interaction of functional variants between SLC24A5 and OCA2 likely influences the diversity of skin pigmentation. Notably, selection has seemingly been relaxed or canceled in several genes with significantly biased ancestry, such as HERC2 - OCA2 . Moreover, signatures of post-admixture adaptation in XJU were identified, including genes related to metabolism (e.g. CYP2D6 ), digestion (e.g. COL11A1 ), olfactory perception (e.g. ANO2 ) and immunity (e.g. HLA ). Our results demonstrated population admixture as a driving force, locally or globally, in shaping human genetic and phenotypic diversity as well as in adaptive evolution., (© The Author(s) 2021. Published by Oxford University Press on behalf of China Science Publishing & Media Ltd.)

Massively parallel sequencing (MPS) offers a useful alternative to capillary electrophoresis (CE) based analysis of human identification markers in forensic genetics. By sequencing short tandem repeats (STRs) instead of determining the fragment lengths by CE, the sequence variation within the repeat region and the flanking regions may be identified. In this study, we typed 264 Uyghur individuals using the MiSeq FGx™ Forensic Genomics System and Primer Mix A of the ForenSeq™ DNA Signature Prep Kit that amplifies 27 autosomal STRs, 25 Y-STRs, seven X-STRs, and 94 HID-SNPs. STRinNGS v.1.0 and GATK 3.6 were used to analyse the STR regions and HID-SNPs, respectively. Increased allelic diversity was observed for 33 STRs with the PCR-MPS assay. The largest increases were found in DYS389II and D12S391, where the numbers of sequenced alleles were 3-4 times larger than those of alleles determined by repeat length alone. A relatively large number of flanking region variants (28 SNPs and three InDels) were observed in the Uyghur population. Seventeen of the flanking region SNPs were rare, and 12 of these SNPs had no accession number in dbSNP. The combined mean match probability and typical paternity index based on 26 sequenced autosomal STRs were 3.85E-36 and 1.49E + 16, respectively. This was 10 000 times lower and 1 000 times higher, respectively, than the same parameters calculated from STR repeat lengths.Key PointsSequencing data on STRs and SNPs used for human identification are presented for the Uyghur population.STRinNGS v.1.0 was used to analyse the flanking regions of STRs.The concordance between PCR-CE and PCR-MPS results was 99.86%.Detection of sequence variation in STRs and their flanking regions increased the allelic diversity., Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© 2020 The Author(s). Published by Taylor & Francis Group on behalf of the Academy of Forensic Science.)

Background: Dyslipidemia is a major risk factor for cardiovascular disease. Several studies have explored the associations of greenness with blood lipids. However, the evidence is still limited and mixed, especially in rural areas., Methods: From May to September 2016, we recruited 4735 Uyghur adults from rural areas of northwestern China. We measured levels of total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C). Two satellite-derived vegetation indices - Normalized Difference Vegetation Index (NDVI) and Soil Adjusted Vegetation Index (SAVI) - were used to estimate residential greenness levels. The associations between exposure to residential greenness and blood lipids levels and dyslipidemia prevalence were examined using the Generalized Linear Mixed Models., Results: Living in greener areas was associated with lower TG levels, higher HDL-C levels, and lower odds of hypoalphalipoproteinemia (e.g., per 0.20-unit increase in NDVI 100 m was associated with 0.02 mmol/L (95% CI: 0.001, 0.03) higher levels of HDL-C and 0.87-fold (95% CI: 0.77, 0.98) lower odds of hypoalphalipoproteinemia). These associations remained in a series of sensitivity analyses. Stratified analyses showed that the associations of NDVI 100 m with LDL-C and HDL-C levels were stronger in women and in participants with higher education level., Conclusions: Higher greenness exposure was beneficially associated with blood lipids among rural Uyghur population in China, especially among women or those with higher education level., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Objective: To elucidate the association between angiotensin gene (AGT) M235T and T174M genetic polymorphisms in Han and Uyghur patients with atrial fibrillation (AF) in Xinjiang, China., Methods: 100 cases of patients with AF of Han and 100 cases of patients with AF of Uyghur were selected as the experimental group, and 100 cases of patients with non-AF of Uyghur and non-AF of Han were selected as the control group. We amplified the AGT M235T site and AGT T174M site by PCR in 4 groups of patients, verified the polymorphism of the sites by gene sequencing, and compared their differences in each group., Results: The high risk factors for AF such as sex, left atrial diameter (LAD), right atrial diameter (RAD), and coronary heart disease were significantly different between the Han case group and the control group ( P < 0.05). There were significant differences in age, LAD, RAD, coronary heart disease and smoking as contributors to AF between Uyghur case group and control group ( P < 0.05). The genotype frequency distribution of AGT M235T and AGT T174M loci in the AF group and control group of Han and Uyghur was in accordance with Hardy-Weinberg equilibrium law test. There was a significant difference in genotype frequency and allele frequency of AGT M235T locus between Han group, Uyghur AF group and control group ( P < 0.05)., Conclusion: The AGT M235T and AGT T174M loci were associated with the occurrence of atrial fibrillation in the Han and Uyghur ethnic groups in Xinjiang., Competing Interests: None., (IJCEP Copyright © 2020.)

Background: RIPK1 (receptor-interacting protein kinase-1) plays a role in cancer development, whereas no clear studies focused on the cervical cancer. The objective of this study was to evaluate the relationship between RIPK1 polymorphisms and cervical cancer risk among the Uyghur population., Methods: We performed a case-control study including 342 cervical cancer patients and 498 age-matched healthy controls. Four RIPK1 genetic variants (rs6907943, rs2077681, rs9503400 and rs17548629) were genotyped with Agena MassARRAY platform. The associations between RIPK1 polymorphisms and cervical cancer risk were assessed under Binary logistic regression models. False discovery rate (FDR) was used to improve the results reliability., Results: The results showed rs2077681 was significantly associated with cervical cancer risk under various genetic models (codominant: OR = 3.14, 95% CI = 1.40-7.07, p = 0.006, FDR-p = 0.018; recessive: OR = 3.20, 95% CI = 1.43-7.16, p = 0.005, FDR-0.018). The stratified analysis indicated that the relationships of rs6907946, rs9503400 and rs17548629 with cervical cancer risk were statistically significant in the subgroup of clinical stage (p < 0.05)., Conclusion: Our findings demonstrated that RIPK1 polymorphisms were associated with cervical cancer susceptibility among the Uyghur population in China, and RIPK1 polymorphisms might be involved in the development of cervical cancer.

A biogeographic estimate of a certain population can not only discern population substructure in the whole genome association study, but also provide informative clues for forensic investigations when obtained DNA genotypes do not find a match in the available forensic DNA database. In this study, 100 ancestry informative single nucleotide polymorphisms (AISNPs) were first presented to differentiate three continental ancestries (African, East Asian and European). Ultimately, forty-two AISNPs were chosen from the 100 AISNPs. Distinguishing power of the 100 and 42 AISNPs for differentiating continental populations was further evaluated with population cluster analyses. Results indicated both of AISNP sets could efficiently differentiate 11 training populations from the three continents. Further validation of 42 AISNPs in testing population set indicated these 42 AISNPs performed well for ancestry inferences of these testing individuals. Ancestry components of Uyghur group were assessed by comparing with different continental populations based on these 42 AISNPs. Results revealed that East Asian populations contributed more ancestry components to the studied Uyghur group than European populations. In conclusion, our study is expected to provide more AISNP markers and enrich extant reference database., (© 2019 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.)

DNA methylation is an epigenetic alteration that may lead to carcinogenesis by silencing key tumor suppressor genes. Hypermethylation of the paired box gene 1 (PAX1) promoter is important in cervical cancer development. Here, PAX1 methylation levels were compared between Uyghur and Han patients with cervical lesions. Data on PAX1 methylation in different cervical lesions were obtained from the Gene Expression Omnibus (GEO) database, whereas data on survival and PAX1 mRNA expression in invasive cervical cancer (ICC) were retrieved from the Cancer Genome Atlas (TCGA) database. MassARRAY spectrometry was used to detect methylation of 19 CpG sites in the promoter region of PAX1, whereas gene mass spectrograms were drawn by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry. Human papillomavirus (HPV) 16 infection was detected by polymerase chain reaction. PAX1 methylation in high-grade squamous intraepithelial lesion (HSIL) and ICC was significantly higher than in normal tissues. PAX1 hypermethylation was associated with poor prognosis and reduced transcription. ICC-specific PAX1 promoter methylation involved distinct CpG sites in Uyghur and Han patients HPV16 infection in HSIL and ICC patient was significantly higher than in normal women (p < 0.05). Our study revealed a strong association between PAX1 methylation and the development of cervical cancer. Moreover, hypermethylation of distinct CpG sites may induce HSIL transformation into ICC in both Uyghur and Han patients. Our results suggest the existence of ethnic differences in the genetic susceptibility to cervical cancer. Finally, PAX1 methylation and HPV infection exhibited synergistic effects on cervical carcinogenesis., (Copyright © 2019. Published by Elsevier B.V.)

Greenness exposure is nominated as a potential beneficial factor for health, but evidence is limited on its diabetes effects. We conducted a cross-sectional study between May and September 2016 in rural areas of northwestern China, including 4670 Uyghur adults, to explore the associations between residential greenness and fasting glucose levels and diabetes prevalence. Fasting glucose levels were determined, and information on covariates was collected by questionnaire. Normalized difference vegetation index (NDVI) and soil-adjusted vegetation index (SAVI) were calculated to assess greenness levels. Generalized linear mixed models were applied to evaluate the associations of greenness with fasting glucose levels and diabetes prevalence. The prevalence of diabetes was 11.6%. We found that living in rural areas characterized by increased amounts of greenness was associated with reduced diabetes prevalence (e.g., NDVI 1000m : OR, 0.92; 95% CI, 0.86, 0.99). Stratified analyses showed that the protective effects of greenness on diabetes prevalence were found only in women (NDVI 1000m : OR, 0.90; 95% CI, 0.82, 0.99). However, none of the interaction was statistically significant. Our study suggests that greater residential greenness levels were associated with a lower odds ratio of diabetes prevalence in Xinjiang Uyghur adults. Further well-designed longitudinal studies are needed to confirm our findings.

Background: The Uyghur is the fifth largest group in China and also the largest ethnic minority in Xinjiang. Aim: To explore the genetic variations of 27 forensic genetic markers included in the newly developed SureID ® PanGlobal Human DNA Identification System and analyse the genetic relationship between Xinjiang Uyghur and their neighbours. Subjects and methods: We genotyped 27 markers in 2,189 unrelated Uyghur individuals from the Hotan Prefecture in Southwest Xinjiang. Comprehensive population genetic studies among Chinese populations and worldwide populations were conducted via various statistics. Results: The combined power of discrimination (CPD) and the combined power of exclusion (CPE) of the new-generation autosomal STR amplification system in the Hotan Uyghur are 9,9999-E01 and 9,9999-E01, respectively. Population genetic studies indicate that the Hotan Uyghur show a close genetic relationship with geographically different Uyghurs and Kazakhs, while significant genetic differentiation exists between the Hotan Uyghur and some ethnicities from other non-Turkic-speaking populations. The results of population comparisons among the 52 worldwide populations demonstrate that geographically approached intercontinental populations have close genetic relationships. Conclusions: 24 autosomal STRs are highly polymorphic and informative in the Uyghur and this system is suitable for forensic personal identification and paternity testing. Our findings not only reveal that Chinese Uyghur is a homogenous population based on forensic genetic markers, but also indicate that population genetic affinity is closely related to the adjacent populations with common ethnic origin.

Autosomal ancestry informative markers (AIMs) are important markers for inferring ancestry of humans. In the present study, we typed 105 Uyghurs and 94 Kazakhs with the Precision ID Ancestry Panel that amplifies 165 autosomal AIMs. No statistically significant deviation from Hardy-Weinberg equilibrium and no linkage disequilibrium between loci was observed after Bonferroni correction. STRUCTURE and PCA analyses showed that Uyghurs and Kazakhs appeared as admixed individuals of primarily European and East Asian ancestry and were clearly differentiated from Europeans, Middle Easterners, South/Central Asians, and East Asians. However, it was not possible to differentiate the two populations from each other and they were also difficult to differentiate from Greenlanders, a population with European/Inuit admixture. GenoGeographer was used to evaluate the weight of the evidence. Initially, the results showed that the majority of AIM profiles from Uyghur and Kazakh individuals were not represented by any of the 36 reference populations of the GenoGeographer database. Consequently, it was not reasonable to infer the ancestry of these individuals. A randomly selected subset of the studied populations (75 Uyghur and 75 Kazakh individuals) was used to construct two new reference populations for GenoGeographer, and ancestry prediction was performed on the remaining test individuals. A total of 42 out of 49 test individuals were represented by at least one population after the introduction of Uyghur and Kazakh reference populations. Likelihood ratios ≥10 6 were obtained when the alternative hypothesis was that the individual belonged to the South/Central Asian, East Asian, Middle Eastern, European, or the admixed Greenlandic population., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Objectives: To investigate the prevalence and associated factors of urolithiasis amongst Uyghur children., Subjects and Methods: A cross-sectional survey was conducted of Uyghur children (aged ≤14 years) in the Kashgar Region of China, from July to December 2016. Children were selected by a two-stage random clustered sampling method, evaluated by urinary tract ultrasonography, low-dose computed tomography (CT) examination, blood and urine analysis, and a questionnaire. The prevalence by CT, the prevalence by self-report in the questionnaires, and the lifetime prevalence were evaluated. Binary logistic regression was used to estimate the associated factors., Results: A total of 5605 children were selected and invited to participate in the study. In all, 4813 Uyghur children (2471 boys and 2342 girls), with an mean (SD; range) age of 75.79 (43.81; 2-177) months, were included in the final analysis, with a response rate of 85.9%. The prevalence of paediatric urolithiasis was 1.8% (95% confidence interval [CI] 1.5-2.2) by CT, 2.3% (95% CI 1.9-2.7) by self-report, and 3.6% (95% CI 3.0-4.1) for the overall life-time. The age-sex adjusted prevalence was 2.0% (95% CI 1.6-2.4) by CT. Binary logistic regression analysis showed that body mass index, urinary tract infection, a family history of urolithiasis, and excessive sweating could increase the risk of stone formation, whilst breast feeding and drinking water at midnight could decrease the risk., Conclusions: Urolithiasis is a major public health problem amongst Uyghur children, and strategies aimed at the prevention of urolithiasis are needed., (© 2019 The Authors BJU International © 2019 BJU International Published by John Wiley & Sons Ltd.)

Autosomal short tandem repeats (STRs) are viewed as the gold standard in forensic individual identification and parentage testing. The Huaxia Platinum System contains 23 autosomal markers along with rs2032678 (Yindel) and amelogenin. Here, we genotyped 23-STRs in the southwestern Xinjiang Uyghur residing in the Artux Region and assessed the allele frequency and forensic statistical parameters. All investigated STRs are in conformity with the Hardy-Weinberg equilibrium with an effective combined power of discrimination (0.99999999999999999999999999992) and cumulative probability of exclusion (0.9999999997) in the Artux Uyghur population. Population comparisons among 54 worldwide populations via PCA and MDS indicate that the Artux Uyghur population has a close genetic relationship with geographically distinct Uyghurs and Kazakh groups than other East Asians or Eurasians. Genetic ancestry component dissection among 2198 individuals from Sinitic, Turkic, and Tibeto-Burman language groups further demonstrates the genetic homogeneity within the Turkic language family and apparent genetic heterogeneity among other language groups.

Objective: There is evidence that type 2 diabetes (T2DM) is affected by gut microbiota, and gut microbiota diversity modified by diet. To investigate its modifications in Uyghur patients with different glucose tolerance, we enrolled 561 subjects: newly diagnosed T2DM ( n = 145), impaired glucose regulation (IGR) patients ( n = 138) and in normal control (NC) population ( n = 278). Methods: The nutrient intake in food frequency questionnaire was calculated by R language. The regions V3-V4 of 16S ribosomal RNA were sequenced by using Illumina Miseq platform. Sequences were clustered by operational taxonomy units, gut microbiota composition, and diversity was analyzed. Correlations between bacterial composition at different level and dietary factors were evaluated. Results: The α-diversity was highest in NC, followed by T2DM and IGR; β-diversity distinguished between patients and NC. Compared to NC, Saccharibacteria was significantly increased in T2DM and IGR. Deferribacteres was significantly increased in T2DM compared to NC and IGR. Veillonella, Pasteurellaceae , and Haemophilus were over-represented in IGR. Abundance of Bacteroidetes was negatively correlated with LDL-C; Abundance of Tenericutes was negatively correlated with hip circumference and total cholesterol, positively correlated with HDL-C and cake intake; Actinobacteria was positively correlated with BMI and folic acid intake, negatively correlated with oil intake. Firmicutes was negatively correlated with beverage and alcohol intake. Spirochaetae was negatively correlated with fungus, fruits, beans, vitamin C, dietary fiber, and calcium. Fusobacteria was positively correlated with beans intake, and was negatively correlated with fat intake. Proteobacteria was positively correlated with tuber crops intake. Synergistetes was positively correlated with cholesterol, nicotinic acid, and selenium intake. Deferribacteres was negatively correlated with magnesium intake. Conclusions: At the phylum and genus level, the structure and diversity of intestinal microbiota of T2DM and IGR was altered, the number of OTUs, the relative abundance, and diversity were all decreased. The gut microbiota of the newly diagnosed T2DM, IGR, and NC were related to age, blood lipids, BMI, blood pressure, and dietary nutrient intake. Unbalanced nutrient intake in the three groups may affect the structure and abundance of the gut microbiota, which may play a role in the occurrence and development of T2DM.

Background: Several epidemiological studies have suggested that optimal obesity and visceral adiposity indicators and their cut-off values to predict cardio-metabolic risks varied among different ethnic groups. However, few studies have investigated the associations of anthropometric indices with cardio-metabolic risks in Chinese Uyghur adults, and the results were inconsistent., Methods: Between May and September 2016, a total of 4664 subjects aged ≥18 years old were recruited from Northwest China. Anthropometric indices and cardio-metabolic risk factors were measured by trained personnel. Partial correlation analyses and logistic regression analyses were used to evaluate the associations of anthropometric indices with cardio-metabolic risk factors. Receiver operating characteristic analysis was used to compare the abilities of different anthropometric indices to predict cardio-metabolic risk factors, and to determine the optimal cut-off values., Results: The prevalence of metabolic syndrome was 39.41% in Uyghur adults from Xinjiang Uyghur Autonomous Region. Waist circumference (WC) performed better than other obesity indices in predicting the cardio-metabolic risk factors, and the optimal cut-off value of WC to diagnose metabolic syndrome risk factors was 86.50 cm for women and 90.50 cm for men., Conclusions: Our study suggests that WC had the strongest predictive power for identifying cardio-metabolic risks in Xinjiang Uyghur adults. Further well-designed longitudinal studies are needed to confirm our findings.

Purpose: This study aimed to characterize dietary patterns in the Uyghur population and examined the relationship between dietary pattern, TCF7L2 single-nucleotide polymorphisms (SNPs), and the risk of type 2 diabetes mellitus (T2DM)., Patients and Methods: Dietary patterns were defined using factor analysis, and associations between dietary patterns were evaluated using multivariate logistic regression analyses. Genotyping of seven SNPs of TCF7L2 (rs11196205, rs12255372, rs12573128, rs4506565, rs7895340, rs7901695, and rs7903146) was conducted, and the association between these seven SNPs and the risk of T2DM was evaluated. Interactions between SNPs, homeostasis model assessment-insulin resistance, and dietary patterns were also analyzed., Results: A total of 828 participants were enrolled in this study, including 491 people with T2DM and 337 healthy controls. Five dietary patterns were defined, and the results indicated that the "fruit" and "vegetables" dietary patterns were associated with a significant decrease in the risk of T2DM, whereas the "meats" and "grains" dietary patterns were associated with an increased risk of T2DM. Moreover, the "dairy product" dietary pattern showed no association with the risk of T2DM. Furthermore, our results revealed that the TCF7L2 SNP, rs12573128, is associated with an increased risk of T2DM. SNPs rs4506565 and rs7903146 significantly interacted with dietary pattern., Conclusion: Our studies suggest that dietary pattern and genetic polymorphisms of TCF7L2 are associated with the development of T2DM in the Uyghur population of China., Competing Interests: Disclosure The authors report no conflicts of interest in this work.

Background: Cervical cancer is the most common genital malignant tumor in women worldwide. However, the reliability of different detection methods may vary according to populations and epidemics. This study analyzed factors relevant to high-risk human papillomavirus (hrHPV) infection among rural Uyghur women aged > 30 years and evaluated the value of different screening methods for cervical precancerous lesions., Methods: From July 2015 to May 2016, 225 rural Uyghur women aged > 30 years were recruited from local health clinics throughout Pishan, Xinjiang, China. HrHPV DNA testing, colposcopy, biopsy of cervical precancerous lesions, and surveys were conducted. The results of different screening methods were compared, and factors associated with hrHPV infection were analyzed., Results: The rates of hrHPV infection and cervical epithelial lesions were 9.3 and 1.8%, respectively. The area under the ROC curve was 0.538 (95% CI: 0.292, 0.784; P = 0.753) for the HPV test and 0.995 (95% CI: 0.988, 1.003; P < 0.001) for colposcopy. Factors associated with HPV infection included widowhood (OR = 13.601 (2.170, 85.263), P = 0.005) and ≥ 3 sexual partners in the past 5 years (OR = 16.808 (4.148, 68.101), P < 0.001). ., Conclusions: Among rural Uyghur women aged > 30 years, the main factors for HPV infection include marriage and frequent sexual intercourse. Colposcopy has a higher screening value for cervical epithelial lesions than hrHPV testing.

How to read Uyghur text from biomedical graphic images is a challenge problem due to the complex layout and cursive writing of Uyghur. In this paper, we propose a system that extracts text from Uyghur biomedical images, and matches the text in a specific lexicon for semantic analysis. The proposed system possesses following distinctive properties: first, it is an integrated system which firstly detects and crops the Uyghur text lines using a single fully convolutional neural network, and then keywords in the lexicon are matched by a well-designed matching network. Second, to train the matching network effectively an online sampling method is applied, which generates synthetic data continually. Finally, we propose a GPU acceleration scheme for matching network to match a complete Uyghur text line directly rather than a single window. Experimental results on benchmark dataset show our method achieves a good performance of F-measure 74.5%. Besides, our system keeps high efficiency with 0.5s running time for each image due to the GPU acceleration scheme.

Background: Cervical cancer incidence and mortality is high in Uyghur ethnics. Their life style and dietary habit were different from other ethnics living together. Study on the role of trace elements in HPV infection and cervical lesion of Uyghur minority is needed for future intervention and prevention work., Methods: In total, 833 Uyghur women were randomly selected from the screening site and hospital. The concentrations of the trace elements As, Fe, Cd, Ni, Cu, Zn, Mn, and Se were determined by atomic absorption spectrophotometry and inductively coupled plasma atomic emission spectroscopy. Univariate analysis was performed with chi-squared test between the HPV-positive and HPV-negative groups and between the case group and the control group. Multivariate analysis was performed with logistic regression., Results: An As concentration ≥ 0.02 mg/kg was a risk factor for HPV infection (OR > 1, P < 0.05), and Ni concentration ≥ 0.1232 mg/kg and Se concentration ≥ 0.02 mg/kg were protective factors (OR < 1, P < 0.05). Concentrations of Fe ≥ 6.9153 mmol/L and As ≥0.02 mg/kg were risk factors for CIN2+ (OR > 1, P < 0.05), and concentrations of Ni ≥0.0965 mg/kg and Se ≥0.02 mg/kg were protective factors (OR < 1, P < 0.05)., Conclusions: Low serum concentrations of Se and Ni and a high serum concentration of As might be related to HPV infection and CIN2+ in Uyghur women in rural China.

Purpose: This study aims to investigate the association of human leukocyte antigen (HLA) alleles and haplotypes in Uyghur women with advanced squamous cell cervical cancer (SCC)., Methods: A total of 131 Uyghur patients with advanced SCC (IIb-IVa) and 91 healthy subjects from Xinjiang province were genotyped for HLA-I and II genes using Polymerase Chain Reaction Sequence Based Typing. The different frequencies of HLA alleles and haplotypes between patients and controls were compared and the correlations were analyzed between HLA distribution and HPV status and prognosis., Results: (1) The frequencies of B*51:01, DRB1*07:01, DQB1*02:01, A*01:01-C*06:02, A*01:01-DRB1*07:01, C*06:02-DQB1*02:01, DRB1*07:01-DQB1*02:01 and C*06:02-DRB1*07:01-DQB1*02:01 in cancer group were higher than control group whereas the frequencies of B*44:02, B*58:01, C*05:01, DRB1*04:01, DRB1*12:01, DRB1*13:01, DQB1*02:02, DQB1*05:02, DRB1*03:01-DQB1*02:02 and DRB1*04:01-DQB1*03:02 in cancer group were lower than control group (P < 0.05). (2) The frequencies of A*01:01-C*06:02, A*01:01-DRB1*07:01, C*06:02-DQB1*02:01, DRB1*07:01-DQB1*02:01 and C*06:02-DRB1*07:01-DQB1*02:01 in HPV positive group were lower than HPV negative group, differences of which were statistically significant (P < 0.05). (3) B*44:02 and B*58:01 were associated with reduced disease-specific survival (DSS) (P = 0.010 and 0.007). (4) Multivariate Cox proportional hazard models revealed that age, International Federation of Gynaecology and Obstetrics (FIGO) stage, tumor differentiation and allele B*58:01 as independent predictors for DSS while FIGO stage and tumor differentiation as independent factors for DFS., Conclusions: In the development and progression of advanced SCC among Uyghur population, the HLA alleles and its haplotypes play an important role. B*58:01 allele may act as an independent predictor for DSS.

Interindividual and interethnic variability of drug responses could be attributed to the differences of genetic polymorphisms in the drug metabolizing enzymes and transporters genes among the populations. Here we reviewed the studies of genetic variations in Uyghur Chinese of fifteen CYP450 genes including CYP1A1, CYP1A2, CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP2J2, CYP2W1, CYP3A4, CYP3A5, CYP4A11, and CYP17A1, which totally covered 277 variants. We also collected the data of 277 variants covered in our study in two extensive population sequencing projects, the International HapMap Project (Hap-Map) and the 1000 Genomes Project and compared them with the data of Uyghur Chinese. The results suggested that remarkable differences of variants allele frequencies of CYP450 genes were existed among Uyghur Chinese and other world populations and drug doses should be adjusted clinically in Uyghur in contrast to Han Chinese and Caucasians., (Copyright © 2017 The Japanese Society for the Study of Xenobiotics. Published by Elsevier Ltd. All rights reserved.)

We investigated the allele frequencies of drug absorption, distribution, metabolism and elimination (ADME)-related drug-metabolizing enzymes and transporters (DMET) genes in the Northwestern Han, Tibetan and Uyghur populations and compared the related genes in these three populations with those in eleven 1000 Genome populations. We examined 1936 single nucleotide polymorphisms of 225 DMET genes involved in ADME processes and found 732, 679 and 804 sites were polymorphic in Han, Tibetan and Uyghur. Tibetan differed from Han in only four sites (p < .05), whereas Uyghur differed from Han and Tibetan in 24 and 21 sites, respectively (p < .05). The distributions of 1058 genotyping data of 245 individuals from Han, Tibetan and Uyghur were compared with 1207 other individuals from the eleven 1000 Genomes populations. The top four populations in Han that exhibited the smallest pairwise Fst values were CHB, Tibetan, CHD and JPT; those in Tibetan were Han, CHB, Uyghur and CHD; and those in Uyghur were Han, Tibetan, GIH and CEU. MEGA results revealed that CHB, CHD, JPT, Han, Tibetan and Uyghur were grouped in cluster 1. GIH, MEX, CEU and TSI were grouped in cluster 2. MKK, ASW, LWK and YRI were grouped in cluster 3.

We investigated the incidence of HPV and risk factors for infection among rural Uyghur women in the Xinjiang province of northwestern China, where there is a high incidence of cervical cancer. We used the careHPV kit to test 6000 sexually active Uyghur women aged 21 to 60 years for HPV, and conducted a comprehensive questionnaire survey to identify relevant HPV infection factors. Our data show the HPV infection rate to be 8.42%, which is lower than 11.7% reported worldwide, despite the higher cervical cancer incidence. Multivariate logistic regression revealed that Uyghur women that had (a) poor personal hygiene and care; (b) no previous gynecological examination; (c) a higher education level; (d) unprotected sex and inadequate personal hygiene; (e) used their fingers for vaginal cleaning (f) smoking husbands and (j) used sanitary napkins or toilet paper during menstruation or used clod as the bathroom wipe material were at greater risk for HPV infection. This suggests that proper interventions that improve personal hygiene, including not using ones fingers for vaginal cleaning, use of condoms, regular gynecological exams and a reduction in smoking by spouses could lower the cervical cancer risk by lowering HPV infection rates. In addition, increasing awareness among more educated women regarding HPV and implementation of effective interventions could reduce the risk of HPV infection in Uyghur women., Competing Interests: CONFLICTS OF INTEREST The authors declare that no competing financial interests exist.

Objective: To explore the association between CETP gene polymorphisms and metabolic syndrome (MS), as well as the relationship between the CETP gene polymorphisms and each component of MS., Methods: A total of 571 individuals which were randomly selected from 5692 Uyghur adults were subdivided into two groups, including 280 patients with MS and 291 control subjects, using the group-matching method after matching for gender. We detected CETP polymorphisms (rs5882, rs1800775, rs3764261, rs12149545, rs711752, and rs708272) by using the Snapshot method., Results: (1) Significant differences were found involving the frequency distribution of genotypes and alleles of rs1800775, rs3764261, rs12149545, rs711752, and rs708272 between the control and MS groups (all p < 0.05). (2) rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms were significantly related to the risk of MS (all p < 0.05). (3) The rs1800775 polymorphism was associated with high fasting blood glucose levels and low high density lipoprotein cholesterol (HDL-C); rs3764261 and rs12149545 polymorphisms were associated with all components of MS except high blood pressure; rs711752 and rs708272 polymorphisms were associated with low HDL-C (all p < 0.05). (4) Complete linkage disequilibrium (LD) was identified for two pairs of single nucleotide polymorphisms (SNPs) (rs3764261 and rs12149545 (D' = 1.000, r² = 0.931), rs711752 and rs708272 (D' = 1.000, r² = 0.996)). (5) The A-G-G-G-C ( p = 0.013, odds ratio [OR] = 0.622, 95% confidence interval [95% CI] = 0.427-0.906) and A-T-A-A-T ( p < 0.001, OR = 0.519, 95% CI = 0.386-0.697) haplotypes were more frequent in the control group than in the case group. Conclusions : The rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms of CETP were associated with MS and its components among the Uyghur ethnic group. Complete LD was found between two pairs of SNPs (rs3764261 and rs12149545, rs711752, and rs708272). The A-G-G-G-C and A-T-A-A-T haplotypes might be protective factors for MS., Competing Interests: The authors declare no conflict of interest.

Background: Definitive radiation therapy (RT) (with or without cisplatin-based chemotherapy) is one of the most effective treatments for cervical squamous cell carcinoma (CSCC), but efficacy is limited due to resistance. In the present study, we investigated the relationship between the expression of Aurora kinase A (Aurora-A, AURKA)and response to RT in patients with CSCC., Methods: The expression of Aurora-A in biopsy specimens of untreated primary tumors in 129 Uyghur patients with CSCC was investigated immunohistochemically. Primary treatment in these patients was definitive radical RT, which consisted of pelvic RT plus brachytherapy (total point A dose:70-85 Gy) (with or without cisplatin-based chemotherapy). The prognostic value of tumoral Aurora-A expression and patients' clinical outcomes were evaluated., Results: Aurora-A expression was significantly associated with lymph node metastasis (P<0.001), large tumor size (P<0.001), low hemoglobin (Hb) level (P=0.011) and recurrence (P<0.001), but not other clinicopathological factors. Definitive RT was unfavorable in patients with high Aurora-A expression (P < 0.001). In 129 enrolled patients, lymph node metastasis, large tumor size, low Hb level, and AURKA overexpression were prognostic factors for both recurrent free survival (RFS) and overall survival (OS) in univariate analysis. However, only high AURKA expression was an adverse independent risk factor for both RFS (hazard ratio, 3.953; 95% CI, 1.473-10.638; P = 0.006) and OS (hazard ratio 9.091; 95%CI 2.597-32.258; P<0.001) in multivariate analyses., Conclusions: Aurora-A may serve as a predictive biomarker of radiation response and a therapeutic target to reverse radiation therapy resistance.

Background: Metabolic syndrome is pandemic; however, the cut-off values for waist circumference (WC) vary widely depending on the ethnic groups studied and the criteria applied for WC measurement. Previous studies for defining optimal WC cut-off points included high-income and urban settings, and did not cover low-income, rural settings, especially for ethnic minorities. This study aimed at defining optimal ethnic-specific WC cut-off points in a low-income, rural population comprising the largest inhabitant minority group residing in far Western China. Methods : Questionnaire-based surveys, physical examinations, and blood testing of 3542 individuals were conducted in 2010, using a stratified cluster random sampling method in rural Uyghur residents (≥18 years old) from 12 villages in Xinjiang, China, approximately 4407 km away from the capital city, Beijing. Metabolic syndrome was defined according to the International Diabetes Federation (IDF) criteria. Optimal, ethnic-specific WC cut-off values for diagnosing metabolic syndrome were determined using receiver operator characteristic (ROC) curve analysis. Results : As WC increased, there was a significant, increasing trend of detection and risk in rural Uyghur adults, regardless of the presence of ≥1 or ≥2 components of metabolic syndrome by IDF criteria. The optimal ethnic-specific WC cut-off point to predict the presence of metabolic syndrome was 85 cm for men and 82 cm for women. With these cut-off points, the prevalence rates of metabolic syndrome among men, women, and overall population in Uyghur adults were 19.5%, 23.0%, and 21.3%, respectively. Conclusions : We report a high prevalence of metabolic syndrome, especially in women, among rural Uyghurs in Western China. A WC cut-off of 85 cm in men and 82 cm in women was the best predictor of metabolic syndrome in this population. Because of the cost-effectiveness in measuring WC, we recommend that these WC cut-off points be integrated into local preventive policies for public health as the primary screening criteria for metabolic syndrome and related diseases among low-income, rural minorities.

Genome-wide association studies have successfully identified over 70 loci associated with the risk of type 2 diabetes mellitus (T2DM) in multiple populations of European ancestry. However, the risk attributable to an individual variant is modest and does not yet provide convincing evidence for clinical utility. Association between these established genetic variants and T2DM in general populations is hitherto understudied in the isolated populations, such as the Uyghurs, resident in Hetian, far southern Xinjiang Uyghur Autonomous Region, China. In this case-control study, we genotyped 13 single-nucleotide polymorphisms (SNPs) at 10 genes associated with diabetes in 130 cases with T2DM and 135 healthy controls of Uyghur, a Chinese minority ethnic group. Three of the 13 SNPs demonstrated significant association with T2DM in the Uyghur population. There were significant differences between the T2DM patients and controls in the risk allele distributions of rs3792267 (CAPN10) (P = 0.002), rs1501299 (APM1) (P = 0.017), and rs3760776 (FUT6) (P = 0.031). Allelic carriers of rs3792267-A, rs1501299-T, and rs3760776-T had a 2.24-fold [OR (95% CI): 1.35-3.71], 0.59-fold [OR (95% CI): 0.39-0.91], 0.57-fold [OR (95% CI): 0.34-0.95] increased risk for T2DM respectively. We further confirmed that the cumulative risk allelic scores calculated from the 13 susceptibility loci for T2DM differed significantly between the T2DM patients and controls (P = 0.001), and the effect of obesity/overweight on T2DM was only observed in the subjects with a combined risk allelic score under a value of 17. This study observed that the SNPs rs3792267 in CAPN10, rs1501299 in APM1, and rs3760776 in FUT6 might serve as potential susceptible biomarkers for T2DM in Uyghurs. The cumulative risk allelic scores of multiple loci with modest individual effects are also significant risk factors in Uyghurs for T2DM, particularly among non-obese individuals. This is the first investigation having observed/found genetic variations on genetic loci functionally linked with glycosylation associated with the risk of T2DM in a Uyghur population., (© 2016 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.)

We hypothesized that the brain structural differences as discovered previously between Westerners and East Asians could also be revealed between Han Chinese and Uyghur, which were genetically related ethnic groups with distinct languages. We conducted a brain MRI structural comparison in terms of cortical thickness and surface area between 15 healthy young Uyghurs and 15 age-matched Han Chinese. Widespread regions with significantly greater cortical thickness were found in the Uyghurs, and their distribution showed strong resemblance to previous "Westerners vs. Asians" findings. While surface area analysis displayed less widespread brain differences. Notably, our detected regions with structural differences contained a large part of language-specific or at least closely language-related brain areas, which may partly be attributable to the brain plasticity respectively driven by Uyghur and Mandarin. Our findings will help to better understand the neurobiological basis of interethnic differences along with the language processing mechanisms of Han Chinese and Uyghur., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Genetic variations in cytochrome P450 2C9 are known to contribute to interindividual and interethnic variability in response to clinical drugs, but little is known about the genetic variation of CYP2C9 in the Uyghur population. We directly sequenced the whole CYP2C9 gene in 96 unrelated, healthy Uyghur from Xinjiang Uygur Autonomous Region of China and screened for genetic variants in the promoter, exons, introns and 3'-UTR. Thirty five previously reported alleles and six genotypes were detected in this study. The allele frequencies of CYP2C9*1, *2, *11, *12, *29 and *33 were 89.58, 7.81, 0.52, 0.52, 1.04 and 0.52%, respectively. We detected one non-synonymous novel variant at position 329 from Arg to Cys and this mutation is predicted to be intolerant by SIFT. Our results provide basic information about CYP2C9 alleles in Uyghur, which may help to optimize pharmacotherapy effectiveness by providing personalized medicine to this ethnic group.

1. CYP2C19 is a clinically important enzyme and is involved in the metabolism of approximately 10% of drugs used in daily clinical practice. Previous studies mainly focused on Chinese Han populations or other ethnic groups, little is known about Uyghur populations. 2. The present study was designed to determine the genetic basis of CYP2C19 polymorphisms. 3. We used direct sequencing to investigate the promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C19 gene in 96 unrelated healthy Uyghur individuals. 4. A total of 31 different CYP2C19 polymorphisms were identified in the Uyghur population, three of which were novel, including two nonsynonymous variants (57807A > M, Gln279Pro and 19257G > R, Asp262Asn) and one synonymous variants in exon 5 (19184T > Y, Leu237Leu). In addition, CYP2C19*1, *2 and *3 alleles showed frequencies of 83.34%, 14.06% and 2.08%, respectively. 5. This is the first study that systematically screened the polymorphisms of the whole CYP2C19 gene in Uyghur population. Hence, our results provided important information on CYP2C19 polymorphisms in Uyghur population and could be helpful for future personalized medicine studies in Uyghur population generally.

Estimating the allele frequencies and forensic statistical parameters of commonly used short tandem repeat (STR) loci of the Uyghur population, which is the fifth largest group in China, provides a more precise reference database for forensic investigation. The 6-dye GlobalFiler™ Express PCR Amplification kit incorporates 21 autosomal STRs, which have been proven that could provide reliable DNA typing results and enhance the power of discrimination. Here we analyzed the GlobalFiler STR loci on 1962 unrelated individuals from Chinese Uyghur population of Xinjiang, China. No significant deviations from Hardy-Weinberg equilibrium and linkage disequilibrium were detected within and between the GlobalFiler STR loci. SE33 showed the greatest power of discrimination in Uyghur population, whereas TPOX showed the lowest. The combined power of discrimination was 99.999999999999999999999998746%. No significant difference was observed between Uyghur and the other two Uyghur populations at all tested STRs, as well as Dai and Mongolian. Significant differences were only observed between Uyghur and other Chinese populations at TH01, as well as Central-South Asian at D13S317, East Asian at TH01 and VWA. The phylogenetic analysis showed that Uyghur is genetically close to Chinese populations, as well as East Asian and Central-South Asian., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Objective: This study aimed to detect the association between polymorphisms and haplotype in the ATP-binding cassette transporter A1 (ABCA1) gene and overweight/obese Uyghur patients in China., Methods: A total of 259 overweight/obese patients and 276 normal weight subjects, which were randomly selected from among 3049 adult Uyghurs, were matched for age. We genotyped ABCA1 single nucleotide polymorphisms of rs2515602, rs3890182, rs2275542, rs2230806, rs1800976, and rs4149313., Results: (1) The genotypic and allelic frequencies of rs2515602 and rs4149313 differed between the control group and case group. The genotypic frequency of rs2275542 also differed between the control group and case group (p < 0.05); (2) rs2515602, rs2230806, and rs4149313 polymorphisms were significantly related to risk of overweight/obese; (3) a significant linkage disequilibrium (LD) was observed between the ABCA1 gene rs2275542 with rs3890182 and rs2515602 with rs4149313. (4) the C-C-C-A-G-G, T-C-G-A-G-G, and T-T-G-G-G-A haplotypes were significant in normal weight and overweight/obese subjects (p < 0.05); (5) the levels of HDL-C (rs2515602, rs2275542, rs4149313) in normal weight subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C and TG (rs1800976) in overweight/obese subjects were different among the genotypes (p < 0.05)., Conclusions: The rs2515602, rs4149313, and rs2275542 polymorphisms were associated with overweight/obese conditions among Uyghurs. Strong LD was noted between rs2275542 with rs3890182 and rs2515602 with rs4149313. The C-C-C-A-G-G and T-C-G-A-G-G haplotypes may serve as risk factors of overweight/obesity among Uyghurs. The T-T-G-G-G-A haplotype may serve as a protective factor of overweight/obesity among Uyghurs. Rs2515602, rs2275542, rs4149313, and rs1800976 polymorphisms in the ABCA1 gene may influence lipid profiles.

An adaptive variant of human Ectodysplasin receptor, EDARV370A, had undergone strong positive selection in East Asia. In mice and humans, EDARV370A was found to affect ectodermal-derived characteristics, including hair thickness, hair shape, active sweat gland density and teeth formation. Facial characteristics are also largely ectodermal derived. In this study, taking advantage of an admixed population of East Asian and European ancestry-the Uyghur, we aim to test whether EDARV370A is affecting facial characteristics and to investigate its pleiotropic nature and genetic model. In a sample of 1027 Uyghurs, we discover that EDARV370A is significantly associated with several facial characteristics, in particular shape of earlobe (P = 3.64 × 10 (-6) ) and type of chin (P = 9.23 × 10 (-5) ), with successful replication in other East Asian populations. Additionally, in this Uyghur population, we replicate previous association findings of incisors shoveling (P = 1.02 × 10 (-7) ), double incisors shoveling (P = 1.86 × 10 (-12) ) and hair straightness (P = 3.99 × 10 (-16) ), providing strong evidence supporting an additive model for the EDARV370A associations. Partial least square path model confirms EDARV370A systematically affect these weakly related ectodermal-derived characteristics, suggesting the pleiotropic effect of EDARV370A mainly plays roles in early embryo development. This study extends our knowledge about the pleiotropic nature of EDARV370A and provides potential clues to its adaptation fitness in human evolution.

Background: The aim of this study was to reveal the association between Methylene tetrahydrofolate reductase (MTHFR) gene mutations (C677T, A1298C and C1317T) and risk of venous thromboembolism (VTE) in Han and Uyghur population in Xinjiang., Material and Method: We conducted a case control study composed of 246 cases, including 86 Uyghur and 160 Han ethnic diagnosed VTE were admitted in the First Affiliated Hospital of Xinjiang Medical University between January 2008 to December 2012, and 292 population including 122 Uyghur ethnic and 170 Han ethnic were studied as controls. To detect the polymorphism of MTHFR gene C677T, A1298T, and C1317T, Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied. Fluorescence polarization immunoassay was adopted to determine the plasma levels Homocysteine (Hcy), folic acid and vitaminB12 (VitB12). The association of the polymorphism of MTHFR and levels Hcy, folic acid and VitB12 with VTE was analyzed., Results: The MTHFR gene C677T genotypes distribution in Uyghur VTE patients and control groups were: TT (27.91% vs. 12.29%), CT (41.86% vs. 52.46%) and CC (30.23% vs. 35.25%), respectively; and in Han VTE patients and control groups were: TT (27.49% vs. 14.71%), CT (44.38% vs. 53.53%) and CC (28.13% vs. 31.76%), respectively, and there were significant differences in TT genotype of MTHFRC677T between VTE patients and controls in both Uyghur and Han ethnic (Uyghur: x(2)=8.070, P=0.005; Han: x(2)=8.159, P=0.004). However, there were no significant differences in the MTHFR gene A1298T and C1317T genotyping distribution frequency in Uygur and Han ethnic between VTE patients and controls (P>0.05). Plasma levels of Hcy in MTHFR gene TT genotype were statistically higher than CT and CC genotype (P<0.05). After adjusting for age, gender, smoking, hypertension, hyperlipidemia, diabetes and MTHFR genotype for plasma Hcy levels, multifactor logistic regression analysis showed (OR=1.025, 95% CI 1.003-1.046, P=0.024) and obesity (OR=4.660, 95% CI 1.417-15.324, P=0.011) were independent risk factors for Uygur ethnic with VTE while plasma Hcy levels (OR=1.020, 95% CI 1.006-1.034, P=0.004) and smoking (OR=2.867, 95% CI 1.062-6.586, P=0.024) were independent risk factors for Han ethnic with VTE., Conclusions: Our finding supports significant role of MTHFR gene in VTE and evidence of genetically determined HHcy contribute a risk for VTE, and a smoker with tHcy has positive association with a risk of VTE.

In recent genome-wide association studies (GWAS), 11 risk loci were identified in patients with familial and sporadic Parkinson's disease (PD) in different populations. The LRRK2 gene was found to be a mutation hot spot in European and Asian populations. The aim of the present study was to investigate the incidence of G2019S and R1441C mutations in the LRRK2 gene in individuals from the Xinjiang region of China, and to explore the associations between LRRK2 gene single nucleotide mutations and susceptibility to PD in the Uyghur and Han populations of Xinjiang. A case-control study was conducted with a group of 312 patients with PD, including 130 Uyghur and 182 Han individuals. The control group comprised 359 subjects, including 179 Uyghur and 180 Han individuals. Polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing methods were used to detect the G2019S and R1441C mutations in the LRRK2 gene in the Uyghur and Han populations. No known mutations or new hybrids were found. Thus, there was no evidence that Uyghur and Han patients with PD possess the G2019S or R1441C mutations of the LRRK2 gene. This does not exclude the possibility of the presence other LRRK2 gene mutations that are associated with PD in the Uyghur and Han populations. In the future, the association of the LRRK2 gene with PD development in different regions and populations requires further study, in addition to the regulatory effects of the G2019S and R1441C mutations on gene expression.

Objective: To evaluate the effect of comprehensive intervention by health education and medical intervention to dyslipidemia Uyghur patients in low-income rural areas in Xinjiang, China., Method: A multistaged (prefecture-county-township-village) stratified cluster random sampling method was used to select participants in southern Xinjiang. Twelve villages in Jiangbazi Township in Jiashi County were chosen. These villages were randomly divided into six intervention groups and six control groups, and local Uyghur aged 18 years or older residing in the village for at least 6 months were interviewed for a baseline prevalence study and to select participants for two years of comprehensive intervention including low dose simvastatin and the effects of the interventions were observed., Results: A total of 655 participants (347 participants in the intervention groups, 308 participants in the control groups) were randomly selected from 12 villages in Jiangbazi Township, follow-up rate is 87.0%. Compared to baseline mean levels of TG and LDL-C were reduced by 1.39 mmol/L (p < 0.01) and 2.12 mmol/L (p < 0.01) respectively and levels of HDL-C increased by1.22 mmol/L (p < 0.01) in the intervention group. Lipids were controlled in 38.61% of the intervention groups vs. 3.57% of the control groups (p < 0.01). Compared with baseline lipid levels, TG, TC, LDL-C and HDL-C was significantly improved, compared with it was in control groups., Conclusions: Blood lipid levels of Uygur patients with dyslipidemia can be effectively improved through health education combined with low-dose statin administration. This suggests that national strategies in public health be developed to improve the treatments to low-income rural minorities with dyslipidemia.

To understand risk factors of the Xinjiang Uyghur, Han two ethnic elderly with mild cognitive impairment (mild cognitive impairment, MCI), and provide evidence for in-depth study of the causes and prevention of MCI. The MCI epidemiological survey was based on Xinjiang Uyghur and Han residents with 60 years of age or older. The total number of participants is 5398, including 3931 Uyghur residents, and 1467 Han residents. There are 456 participants with MMSE score 2 points above the demarcation points, excluded from the survey for dementia, cerebrovascular disease and other central nervous system disorders, according to case-control study method of random selection in epidemiological survey. In accordance with the clinical diagnostic criteria of MCI, which is from Disorder Diagnostic and Statistical Manual (the revised version of the fourth edition (DSM-IV) from of the American Psychiatric Association, there are 305 cases of MCI, including 159 cases of Han, 146 cases of Uyghur. In the Han groups: univariate analysis showed a correlation (P < 0.05) between sex, age, blood pressure, triglyceride (TG), low density lipoprotein (LDL-ch) and MCI. Multivariate Logistic regression analysis showed: age, hypertension, TG, LDL-ch (increased) may increase the risk of MCI (OR values were: 1.115, 1.981, 1.315, 1.495, with P < 0.05). In the Uyghur groups: univariate analysis showed a correlation (P < 0.05) between age, gender, hypertension, abnormal glucose metabolism, TG, TC, LDL-ch and MCI. Multivariate Logistic regression analysis showed: age, hypertension, abnormal glucose metabolism, TG, TC, LDL-ch (increased), women have a higher risk of MCI (OR values were: 1.063, 2.145, 2.879, 2.078, 1.429, 1.485, 0.462, P < 0.05). Age, hypertension, TG and LDL-ch are risk factors of MCI for Han population, while age, hypertension, abnormal glucose metabolism, TG, TC and LDL-ch are risk factors of MCI for Uyghur population.

Objective: We aimed to investigate whether free fatty acid (FFA) levels in hypertensive patients result from increased blood pressure or the accompanying condition of insulin resistance (IR). Furthermore, we aimed to study the role of IR in the onset and development of hypertension and then provide a basis for the prevention and treatment of hypertension and metabolic syndrome (MS)., Design and Methods: The study included 68 essential hypertensive patients without IR, 87 normotensive subjects with IR, 82 essential hypertensive patients with IR and 74 normotensive subjects without IR. Analysis of covariance was used to compare FFA concentrations among the four groups to determine the association between FFA concentrations and hypertension and IR., Results: A significant difference in FFA concentrations among the four groups was found using a one-factor analysis of variance (p<0.001). A significant difference was also found among the adjusted means of the four groups (essential hypertensive patients with IR vs. normotensive subjects without IR: 0.703 mg/L vs. 0.516 mg/L, p<0.001; essential hypertensive patients with IR vs. normotensive subjects with IR: 0.703 mg/L vs. 0.525 mg/L, p<0.001; essential hypertensive patients with IR vs. essential hypertensive patients without IR: 0.703 mg/L vs. 0.579 mg/L, p=0.002; normotensive subjects with IR vs. normotensive subjects without IR: 0.525 mg/L vs. 0.516 mg/L, p=0.007; essential hypertensive patients without IR vs. normotensive subjects without IR: 0.579 mg/L vs. 0.516 mg/L, p<0.001). However, no significant interaction was detected between IR and hypertension regarding the FFA concentration., Conclusions: FFA is an independent factor for IR and hypertension among Uyghur adults in a rural area of Xinjiang.

The aim of the present study was to explore the correlation between single nucleotide polymorphisms (SNPs) rs3840858 and rs2304921 in a specific α-2,6 sialyltransferase gene, ST6GALNAC2, and the susceptibility to immunoglobulin (IgA) nephropathy (IgAN). The distributions of genotypes of SNPs rs3840858 and rs2304921 in ST6GALNAC2 were detected by direct sequencing. The distributions of the genotype and allele frequencies of rs3840858 in patients with IgAN were significantly different from those in the control group (genotypes, P=0.001; alleles, P=0.001). The DI genotype ratio (17.8%) in the IgAN group was higher than that in the control group (5.6%) and the I allele frequency (8.9%) in the IgAN group was higher than that in the control group (2.8%). Univariate logistic regression analysis indicated that rs3840858 polymorphism is a risk factor of IgAN (P=0.001). The risk of developing IgAN in individuals who carried the DI genotype was 3-fold higher than that in individuals who carried the DD genotype [odds ratio (OR)=3.676, 95% confidence interval (CI)=1.284-10.519], and the risk of developing IgAN in individuals who carried the I allele was higher than that in individuals who carried the D allele (OR=3.415, 95% CI=1.223-9.531). The distributions of the genotype (AA, AG and GG) and allele (A and G) frequencies of rs2304921 did not have a statistically significant difference between patients with IgAN and those without (P>0.05). The SNP rs3840858 in the ST6GALNAC2 gene may be associated with the risk of developing IgAN in the population studied; however, polymorphism of rs2304921 appears to be irrelevant to the risk of developing IgAN in this population.