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Following up on our previous study, we conducted a genome-wide analysis of admixture for two Uyghur population samples (HGDP-UG and PanAsia-UG), collected from the northern and southern regions of Xinjiang in China, respectively. Both HGDP-UG and PanAsia-UG showed a substantial admixture of East-Asian (EAS) and European (EUR) ancestries, with an em...
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Context 1
... the initial set of 271,907 AIMs, 63,544 SNPs in the HGDP-CEPH panel were genotyped and thus could be validated in more EAS and EUR populations, and another 405 SNPs with F ST > 0.8 between EAS and EUR were also kept for further filtration. Small within-group variations (F ST < 0.05) of AIMs were validated in six EAS popula- tions and nine EUR populations; a summary of SNP-screen results is shown in Table S1 and Table S2. AIMs were further screened by the choosing of a maximum of two SNPs in 0.1 cM windows, with a minimum distance of 0.01 cM between SNPs. ...
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... both PanAsia-UG and HGDP-UG individuals, the mean EAS contribution to autosomal chromosomes was similar, with the use of AIMs and 19,934 random markers ( Figure 5A), as indicated by large t test p values (0.232 and 0.975 for PanAsia-UG and HGDP-UG, respectively). The results estimated from each chromosome in HGDP-UG and PanAsia-UG populations are shown in Table 2. Varia- tion of the estimations among chromosomes was mainly due to differences between numbers of markers, whereas the larger variation in HGDP-UG was probably due to its smaller sample size. ...
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... previous estimation was 40:60 (EAS:EUR), which was based on 83 AIMs selected from chromosome 21 data in 40 southern Uyghur samples. The difference could be due to both the difference of sam- ple size and the difference of markers, but the latter plays a relatively more important role, which could be seen from the variation of estimations among chromosomes, as shown in Table 2. We suggest the current estimation for southern Uyghurs is more precise and, thus, is closer to the true admixture proportion. ...
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... Both admixed populations demonstrated the admixture structure of the HA model which includes two sides: the western admixed population from West European and South Asian, and the eastern admixed population from East Asian and Siberian. In a broader and more general sense, XJU and KZK are also admixed populations of western and eastern ancestries [30]. These findings provide further evidence for the complex genetic landscape in Central Asia. ...
Various methods have been proposed to reconstruct admixture histories by analyzing the length of ancestral chromosomal tracts, such as estimating the admixture time and number of admixture events. However, available methods do not explicitly consider the complex admixture structure, which characterizes the joining and mixing patterns of different ancestral populations during the admixture process, and instead assume a simplified one-by-one sequential admixture model. In this study, we proposed a novel approach that considers the non-sequential admixture structure to reconstruct admixture histories. Specifically, we introduced a hierarchical admixture model that incorporated four ancestral populations and developed a new method, called HierarchyMix, which uses the length of ancestral tracts and the number of ancestry switches along genomes to reconstruct the four-way admixture history. By automatically selecting the optimal admixture model using the Bayesian information criterion principles, HierarchyMix effectively estimates the corresponding admixture parameters. Simulation studies confirmed the effectiveness and robustness of HierarchyMix. We also applied HierarchyMix to Uyghurs and Kazakhs, enabling us to reconstruct the admixture histories of Central Asians. Our results highlight the importance of considering complex admixture structures and demonstrate that HierarchyMix is a useful tool for analyzing complex admixture events.
... Eurasian populations, such as the Uyghurs, provide a unique opportunity to investigate the impact of genetic variation on a finer scale in a single population with both western and eastern ancestry [7][8][9]. Long-term admixture has resulted in the transcriptomics in this Eurasian admixed population via whole-genome sequencing of DNA and RNA from whole blood. ...
... For simplification, we regarded XJU as having two major ancestry components, i.e., the West and the East Eurasian, as identified in previous studies [7,30]. We used the ...
It remains unknown and debatable how European-Asian-differentiated alleles affect individual phenotypes. Here, we made the first effort to analyze the expression profiles of highly differentiated genes with eastern and western origins in 90 Uyghurs using whole-genome (30 × to 60 ×) and transcriptome data. We screened 921 872 east-west highly differentiated genetic variants, of which ∼4.32% were expression quantitative trait loci (eQTLs), ∼0.12% were alternative splicing quantitative trait loci (sQTLs), and ∼0.12% showed allele-specific expression (ASE). The 8 305 highly differentiated eQTLs of strong effects appear to have undergone natural selection, associated with immunity and metabolism. European-origin alleles tend to be more biased expressed; highly differentiated ASEs were enriched in diabetes-associated genes, likely affecting the diabetes susceptibility in the Uyghurs. We proposed an admixture-induced expression model to dissect the highly differentiated expression profiles. We provide new insights into the genetic basis of phenotypic differentiation between Western and Eastern populations, advancing our understanding of the impact of genetic admixture.
... Similar results were observed for the Uygur population from Xinjiang, China, that harbors high frequencies of CYP2C9*2 (7.8%), an allele which is otherwise very rare in East Asia (< 0.1%). Previous studies showed that the Uygurs are a highly admixed population with admixture mapping suggesting a European ancestry contribution of 47% [21]. In South America, we observed large frequency differences of CYP2C9*2 (between 0.5% in Ecuador to 6% in Chile) but not *3 across different mestizo populations (Table 2). ...
Background
Genetic variability in the cytochrome P450 CYP2C9 constitutes an important predictor for efficacy and safety of various commonly prescribed drugs, including coumarin anticoagulants, phenytoin and multiple non-steroidal anti-inflammatory drugs (NSAIDs). A global map of CYP2C9 variability and its inferred functional consequences has been lacking.
Results
Frequencies of eight functionally relevant CYP2C9 alleles (*2, *3, *5, *6, *8, *11, *13 and *14) were analyzed. In total, 108 original articles were identified that included genotype data from a total of 81,662 unrelated individuals across 70 countries and 40 unique ethnic groups. The results revealed that CYP2C9*2 was most abundant in Europe and the Middle East, whereas CYP2C9*3 was the main reason for reduced CYP2C9 activity across South Asia. Our data show extensive variation within superpopulations with up to tenfold differences between geographically adjacent populations in Malaysia, Thailand and Vietnam. Translation of genetic CYP2C9 variability into functional consequences indicates that up to 40% of patients in Southern Europe and the Middle East might benefit from warfarin and phenytoin dose reductions, while 3% of patients in Southern Europe and Israel are recommended to reduce starting doses of NSAIDs.
Conclusions
This study provides a comprehensive map of the genetic and functional variability of CYP2C9 with high ethnogeographic resolution. The presented data can serve as a useful resource for CYP2C9 allele and phenotype frequencies and might guide the optimization of genotyping strategies, particularly for indigenous and founder populations with distinct genetic profiles.
... This may be related to overweight, WC, and TG levels in the Uyghur population in this study. The Uyghurs have a mix of genes of white and East Asian populations [30,31]. Research has revealed that Asians store less subcutaneous fat. ...
In 2020, a group of international experts proposed a new term 'metabolic dysfunction-associated fatty liver disease' (MAFLD) to replace 'non-alcoholic fatty liver disease'. This study aimed to describe the epidemic characteristics of MAFLD, incidence of cardiovascular disease (CVD), and relationship between MAFLD and incident CVD. In 2016, 12,794 Uyghur adults from Kashgar, Xinjiang, were grouped according to the presence or absence of MAFLD. The primary outcome was the occurrence of CVD events. Fatty liver was diagnosed using ultrasound. The prevalence of MAFLD was 16.55%. After excluding patients with previous CVD, 11,444 participants were followed up for a median period of 4.7 years. During the follow-up period, the overall CVD incidence was 10.40% (1190/11,444). The incidence of CVD in the patients with MAFLD was significantly higher than that in the non-MAFLD patients (18.38% vs. 9.02%, p < 0.001; multivariable-adjusted hazard ratio = 1.37, 95% CI = 1.20-1.56). The prevalence of MAFLD was relatively low, whereas the incidence of CVD was relatively high among the Uyghur adults in rural Xinjiang. Individuals with MAFLD have a higher risk of developing CVD independent of traditional cardiovascular risk factors, obesity, type 2 diabetes mellitus (T2DM), and dyslipidaemia.
... Kashi city is located in the northwestern China, and more than 90% of the total local population in Kashi are Uyghurs . The Uyghurs demonstrate a range of mixed Asian and European anthropological features (Xu and Jin 2008). At the same time, they usually do not marry other ethnic groups. ...
Genetic factors are important factors in chronic obstructive pulmonary disease (COPD) onset. Plenty of risk and new causative genes for COPD have been identified in patients of the Chinese Han population. In contrast, we know considerably little concerning the genetics in the Kashi COPD population (Uyghur). This study aims at clarifying the genetic maps regarding COPD susceptibility in Kashi (China). Whole-exome sequencing (WES) was used to analyze three Uyghur families with COPD in Kashi (eight patients and one healthy control). Sanger sequencing was also used to verify the WES results in 541 unrelated Uyghur COPD patients and 534 Uyghur healthy controls. WES showed 72 single nucleotide variants (SNVs), two deletions, and small insertions (InDels), 26 copy number variants (CNVs), and 34 structural variants (SVs), including g.71230620T > A (rs12449210T > A, NC_000,016.10) in the HYDIN axonemal central pair apparatus protein ( HYDIN ) gene and g.61190482A > G (rs777591A > G, NC_000002.12) in the ubiquitin-specific protease 34 ( USP34 ) gene. After Sanger sequencing, we found that rs777591“AA” under different genetic models except for the dominant model (adjusted OR = 0.8559, 95%CI 0.6568–1.115, p > .05), could significantly reduce COPD risk, but rs12449210T > A was not related to COPD. In stratified analysis of smoking status, rs777591“AA” reduced COPD risk significantly among the nonsmoker group. Protein and mRNA expression of USP34 in cigarette smoke extract-treated BEAS-2b cells increased significantly compared with those in the control group. Our findings associate the USP34 rs777591“AA” genotype as a protector factor in COPD.
... Uyghurs are one of the oldest ethnic minorities in China. The population originated in Eurasia, with anthropometric and genetic characteristics of East and West Eurasia [11]. In this study, we systematically screened the promoter, the 3'-UTR and exon regions and partial sequences flanking exon-intron junctions of the CYP2J2 gene from 100 unrelated healthy individuals of the Chinese Uyghur population to explore their mutations and compared their variability frequency with previous observations from other ethnic groups. ...
Genetic characteristics of CYP2J2 in different populations may be helpful to explore interethnic variability in drug response and disease susceptibility. There is no information about the genetic profile of CYP2J2 in the Chinese Uyghur population. We used PCR and first-generation sequencing technology to investigate CYP2J2 mutations in 100 unrelated healthy Chinese Uyghurs. The chi-square test was used to compare genotyping data of CYP2J2 in the Chinese Uyghur population with other ethnic groups. The SIFT and PolyPhen-2 online tools were used to predict the protein function of the novel nonsynonymous mutations in CYP2J2. CADD software was used to predict pathogenicity of the mutations. We found twenty-eight mutations in CYP2J2, five new mutations, three alleles (*1, *7 and *8), and three genotypes (*1/*1, *1/*7 and *1/*8) in the Chinese Uyghur population. The allele frequencies of CYP2J2 *1, *7 and *8 were 96%, 3.45%, and 0.5%, respectively. Interethnic comparison found that subgenotype *1 in Uyghur was significantly higher than in Taiwanese and African Americans, and *7 frequency in Uyghur was slightly lower than that in Taiwanese and African Americans (P<0.05); *8 was only found in Chinese Uyghur and Korean populations, with frequencies of 0.5% and 0.8%, respectively. Furthermore, the protein prediction results revealed that the five nonsynonymous mutations could influence protein structure and function. The observations of this study give rise to useful information on CYP2J2 mutations in Chinese Uyghurs, which may support future important clinical implications for the use of medications metabolized by CYP2J2.
... Present-day populations in Northwest China, or geographically Central Asia, such as Tajiks, Uyghurs and Uzbeks [1], exhibit genetic admixture of distinct ancestries of East Asian and European origin. For example, Xu et al. [2,3] described the genetic make-up of the Uyghurs as an admixture with approximately half East Asian-like and half European-like ancestry. Recently, Feng et al. [4] dissected the ancestry composition of the Uyghurs living in Xinjiang (XJU) on a finer scale and identified four major ancestral components, i.e. ...
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.
... One advantage for genetic studies in Chinese population is that the Han Chinese are relatively genetically homogeneous due to low international migration (Xu and Jin 2008). This is different from most Western countries that are relatively heterogeneous genetic compositions due to a long history of international migration that has mixed with populations from parts of the world. ...
... In order to identify those markers that are useful and informative of ancestry, multiple measurements of population differentiation have been proposed [28,29]. Additionally, the widespread use of SNP arrays and NGS technologies with information from hundreds of thousands genetic markers has facilitated LA inferences and the development of AIMs panels for particular admixed populations [30][31][32]. The use of genotyping microarrays has also led to the development of improved methods to infer LA, such as LAMP-LD [37], RFMix [24], and HAPMIX [36], among others (Table 1). ...
... Subsequent whole-exome sequencing analyses revealed that the phospholipase C gamma 2 (PLCG2) gene, located in that region, was enriched of deleterious variants among asthma cases [83]. Likewise, other populations that could be excellent targets for admixture mapping studies are the Cape Verde population, also from the Macaronesia, since they are a result of recent gene flow between Africans and Europeans [84], and the Uyghur population, which can be modelled by a two-way admixture between Europeans and East Asians [31]. Genetic ancestry studies could assist in unraveling the genetics underlying prevalent diseases in these populations, helping to raise the representation of diversity in the genetic architecture of diseases, and thus result in a better transference of knowledge to personalized medicine. ...
Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. In this review article, we summarize the most common methods of global and local genetic ancestry estimation and discuss the use of admixture mapping studies in human diseases.
... Various studies show somewhat different ratios of these components in Uyghur genetics. One study finds the western Eurasian-specific haplogroup 13 in Uyghurs to be 42.6%, and East Asian haplogroup to be 57.4% (Yao, Kong, Wang, Zhu & Zhang, 2004 (Xu & Jin, 2008). Generally speaking, the Uyghurs are genetically very similar to other Central Asian populations (Bian, et al, 2016 (Millward & Perdue, 2004;Millward, 2007). ...
Among the Muslim immigrants who have been arriving in Canada in recent years, Uyghur immigrants from Xinjiang Uyghur Autonomous Region (XUAR) of China reveal many special features. Their religious identity, language, education, and other forms of human rights have been facing serious threats under the current Chinese government. While immigrating to the Western liberal democracies may be conducive to protecting and strengthening their cultural identities, this may also create various new challenges to their collective identity. With such a background, this comparative study intends to explore the identity reconstruction experiences of the highly educated Muslim Uyghur immigrants in French Quebec and English Canada.
This study looks into the Uyghur identity experiences through the intersection of multiple theoretical lenses, namely identity politics, post-colonialism, critical race theory and “Lost in Translation”. Methodologically, critical narrative analysis (CNA), which is an organic combination of critical discourse analysis (CDA) and narrative analysis (NA), is used to investigate the discursive formation and reconstruction of Uyghur identity within various Canadian contexts. More specifically, the narratives of 12 participants are studied through thematic analysis, as well as constant comparison method.
Generally speaking, the findings of this comparative study show both similar and different perspectives and experiences of the Uyghur immigrants living in Quebec and English Canada. In terms of their educational experiences and perspectives, they expressed very common voices over the positive as well as negative influences of the Canadian educational institutions on the Uyghur identity and cultural values. They all began to more deeply value and appreciate their own community cultural wealth, while starting to question the Eurocentric cultural capital produced and reproduced in the Canadian education systems which they once highly admired. When they all showed dramatically increased consciousness of being Uyghur and Muslim in all Canadian contexts, they felt a significantly deeper sense of being excluded and discriminated in Quebec than in the English provinces.
Moreover, there is a possibility that most of them may have internalized or developed an us/Muslim immigrants vs. them/local, White Canadians dichotomy, reflecting the long-existing discourse of Orientalism. But the extent of such a gap may again vary in different provinces, with Quebec exposing a wider and deeper division. At the same time, in English Canada, such a dichotomy seems to be largely cultural rather than political, while in Quebec it appears to be equally political and cultural. In other words, while they unanimously expressed their resistance to the dominant cultures in Canada through highlighting the values and importance of their own cultural wealth, in English provinces their resistance appears to have been unfolding more in the form of “oppositional culture” which could be quite apolitical. Yet in Quebec, it may have been manifesting itself at the level of “oppositional consciousness”, which can be significantly political.
Meanwhile, their increased opportunity for resistance and freedom in Canada has also been accompanied by dilemmas, tensions and new forms of displacement, which have rendered them outsiders again after having lived as “strangers in their own land” - Xinjiang for about three decades. Such form of double displacement or twofold experience of alienation/estrangement has, to a great extent, shaped the process of the reconstitution of Uyghur identity in Canada.
