Hui Population Research Articles

Development and evaluation of a panel of newly screened Y chromosome InDels for inferring paternal ancestry information in Southwest China.

Y-InDels (insertions/deletions) are genetic markers which are extremely understudied. It is unknown whether this type of markers can be utilized for genetic ancestry inference. We have developed an innovative Y chromosome ancestry inference system tailored for forensic applications. This panel amplifies 21 Y chromosome loci, encompassing Y-InDels and Y-SNPs (Single Nucleotide Polymorphism), utilizing the capillary electrophoresis (CE) platform. The system performed well at DNA concentrations greater than 0.125 ng/ul and produced accurate results at a 1:100 mixing ratio of male and female DNA. The Cumulative probability of matching (CPM) was between 0.95 and 0.97 in the experimental population. The system's efficacy in inferring ancestral origins was demonstrated through intercontinental population discrimination, revealing high discrimination power between African and East Asian populations. Population genetic analyses conducted on Han, Qiang and Hui populations in Southwest China, where the smallest FST value was 0.0002 between Han Chinese in Beijing (from 1000 Genomes Project) and Qiang Chinese from Sichuan (CQSC). Phylogenetic tree construction further illuminated distinct haplotypes among populations, with ethnically unique haplotypes observed in 34.6% of Hui and 7.1% of Qiang populations. K-fold cross-validation show the system's inference abilities at the intercontinental level. In addition, our investigations identified potential associations between the Y-InDel locus Y: 15,385,547 (GRCh37) and haplogroup R1a1a1b2a2- Z2124, as well as locus Y: 13,990,180 (GRCh37) and haplogroup F-M89. In conclusion, we have established a Y-chromosome inference system tailored for grassroots-level application, underscoring the value of incorporating Y-InDel markers in forensic analyses.

Forensic characteristics of 38 Y-STR loci in the Hui population from Shaanxi Province, Northwest China

In this study, we genotyped 939 unrelated healthy individuals to investigate the genetic polymorphisms of 38 Y chromosome short tandem repeats(Y-STRs) loci included in the Yfiler™ Platinum kit in the Hui population of Shaanxi Province. Comprehensive population comparisons were performed using analysis of molecular variance(AMOVA), multidimensional scaling(MDS), and molecular evolutionary genetics analysis(MEGA) to explore population relationships. The allele frequencies of the single-copy loci ranged from 0.001 to 0.940 (DYS645), while those of the multi-copy loci ranged from 0.001 to 0.138 (DYS527). The highest genetic diversity (GD) value was observed for DYS385 (0.9723), and the lowest for DYS645 (0.1138). A total of 849 distinct haplotypes were identified among the 939 Hui individuals, with 808 (95.2 %) being unique. Haplotype diversity (HD), haplotype match probability, and discriminatory power (DC) in the Shaanxi Hui population were 0.9996, 0.0015, and 0.9041, respectively. Interpopulation comparisons based on Rst genetic distance values, phylogenetic trees, and MDS indicated that the Shaanxi Hui population has a close genetic relationship with the Ningxia Hui, Qinghai Hui, Xinjiang Hui, and Yunnan Hui populations. The population genetic stratification largely coincides with geographic distribution and language families. Our study revealed that the 38 Y-STR loci exhibit high genetic polymorphisms in the Hui population from Shaanxi Province.

Unraveling the paternal genetic structure and forensic traits of the Hui population in Liaoning Province, China using Y-chromosome analysis

The Hui people are the second-largest ethnic minority in China, and they are distributed throughout the country. A previous study explored the paternal genetic structure of the Hui population in nine different regions of China, but it overlooked the Liaoning province. In this study, we examined the paternal genetic makeup and forensic traits of the Hui population in Liaoning province by analyzing 157 Y-chromosome single nucleotide polymorphisms (Y-SNPs) and 26 short tandem repeats (Y-STRs). We successfully genotyped 282 unrelated male individuals from the Hui population of Liaoning province using the SNaPshot® single base extension assay and Goldeneye™ Y26 system kit (PEOPLESPOT R&D, Beijing, China). The results revealed high haplotypic diversity (0.9998) and identified 46 terminal haplogroups for the Hui population. Additional analyses, such as heat maps, principal component analysis (PCA), genetic distance (FST), Multidimensional scaling (MDS) analysis, and median-joining network (MJ) analysis, showed that the Hui population could be classified into three groups: Northwest Hui populations (NWH), including Liaoning, Xinjiang, Qinghai, Gansu, Ningxia, Shaanxi, and Henan; Hui populations from Sichuan and Shandong (SSH); and Yunnan Hui populations (YNH). Pairwise genetic distance (Rst) comparisons with other Chinese populations revealed that the Hui population displayed genetic affinity with the Han population. The comprehensive understanding of the Hui population in Liaoning province, explored by Y-SNPs and Y-STRs, can be utilized to interpret their genetic structure and enhance the accuracy of forensic databases.

Validation of the Microreader™ 36A ID System for forensic genetic casework and database construction

ABSTRACT Autosomal short tandem repeats (STRs) are crucial in identifying humans. Herein, a developmental validation was performed for a newly generated autosomal STR kit (Microreader™ 36A ID System). The sensitivity of this kit was fine when the input DNA dropped down to 0.02 ng/uL. Mixture analysis showed that when male:female = 200 pg: 5400 pg, full profiles of both individuals could be obtained. When inhibited substances existed, all alleles were acquired up to 2000 μM haematin, 1000 ng/μL humic acid or 250 ng/μL tannic acid. The kit exhibited a high precision level with no more than 0.29 nt standard deviation of allele size, with the accuracy (the difference of allele size between the true allele and ladder allele) no more than 0.4 nt. The total discrimination power of this system in the Chinese Han and Hui population was larger than 1–0.1 × 10−30. For the full-sibling test, the identical-by-state (IBS) score varied from 37 to 46, while it was from 21 to 28 when using the AGCU Express marker 22 STR Kit. This kit can increase the autosomal STR information of a single PCR reaction and is promising in the casework of forensic genetic as well as database construction.

Genetic polymorphisms of pharmacogenomic VIP variants in the Hui population from Ningxia Province of China.

Pharmacogenomics has been widely used to study the very important pharmacogenetic (VIP) variants among different populations. However, there is little pharmacogenomic information about the Chinese Hui population. Our research aimed to reveal the outstandingly different loci in the Hui population, and provide a theoretical foundation for personalized drug use in the Hui population, so as to facilitate more effective treatment of diseases. This study genotyped 53 VIP variants of 26 genes in 200 independent Hui individuals based on the Pharmacogenetics and Pharmacogenomics Knowledge Base (PharmGKB). Remarkable differences in the genotype and allele frequencies between the Hui and 26 other populations from the 1000 Genomes Project were assessed using the χ2 test. The genotype and allele frequencies of single nucleotide polymorphisms (SNPs) in PTGS2 (rs20417), NAT2 (rs1801280), NAT2 (rs1208), ACE (rs4291), and CYP2D6 (rs1065852) were considerably different in the Hui population compared with those in the other 26 populations. Besides, using the PharmGKB database, we identified several VIP variants that may alter the drug metabolism of ibuprofen, rofecoxib (PTGS2), captopril (ACE), citalopram, and escitalopram (CYP2D6). We also discovered other variants associated with adverse reactions to cisplatin and cyclophosphamide (NAT2). Our study indicated that the loci of PTGS2 (rs20417), NAT2 (rs1801280 and rs1208), ACE (rs4291), and CYP2D6 (rs1065852) in the Hui population were obviously different from those in the other 26 populations, which provides reliable information for predicting drug efficacy. Besides, it supplements the pharmacogenomic knowledge of the Hui population and lays the foundation for the individualized treatment for the Hui population.

Population data and phylogenetic analysis of 37 Y-STR loci in the Hui population from Yunnan Province, Southwest China

Background Previous studies of the genetic polymorphism of the Y-chromosomal short tandem repeat (Y-STR) of Huis were focussed on the northwest of China. However, the population genetic characteristics of Chinese Hui residing in Yunnan province, Southwest China, remain unclear. Aim To provide genetic data for 37 Y-STRs in the Chinese Hui population of Yunnan province, as well as to investigate population genetic relationships between the Chinese Hui and another 26 populations from China and neighbouring countries. Subjects and methods In total, 326 unrelated healthy male individuals were genotyped using the GoldeneyeTM Y Plus PCR Amplification Kit. Genetic relationships between different populations were analysed using YHRD’s AMOVA tools. Results A total of 279 haplotypes were detected, out of which 244 were unique. The overall haplotype diversity (HD) and discrimination capacity (DC) were 0.9989 and 0.8611, respectively. The gene diversity (GD) ranged from 0.0544 (DYS645) to 0.9656 (DYS385). Conclusions The population comparison indicated that Muslim populations (Hui, Salar and Uighur) showed significantly more genetic affinity than other populations. Our results could be applied in forensic practice and population genetic studies.

P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family

Poster session 1, September 21, 2022, 12:30 PM - 1:30 PM ObjectivesChronic mucocutaneous candidiasis (CMC) is a group of clinical syndromes characterized by chronic recurrent skin, nails, and mucosal superficial Candida infections. Various gene mutations have been reported to predispose individuals to CMC and its related syndrome. This study aims to study the clinical features and the genetic background underlying two kids of CMC from a Chinese family.MethodsClinical and laboratory findings of the two patients were studied, including physical examination, direct microscopic examination, and fungal culture. Genomic DNA of all family members was extracted from peripheral blood leukocytes, and whole-exome sequencing (WES) was performed.ResultsA 2-year-old boy and his sister were admitted to the hospital due to recurrent thrush and thickening of their nails. Direct microscopic examination of their nails and the brother's tongue showed branched pseudohyphae and yeast cells, and Candida albicans was identified through fungal culture. The brother also experienced a progressively impaired vision, which was diagnosed as retinitis pigmentosa, causing no light perception in one eye and light perception up to 0.1 in the other. Their parents belonged to the Hui population (a minority population in China) and had a history of consanguineous marriage. Chronic mucocutaneous candidiasis (CMC) was diagnosed, and oral fluconazole was prescribed. After continuous fluconazole treatment for 6 months, the nails and the tongue became normal. These patients are still under follow-up.Due to the recurrent Candida infections and history of consanguineous marriage, genetic susceptibility was suspected. When we compared the WES data with all genes reported to be related to CMC, a homozygous mutation in the AIRE gene was noted (C. 769 C >T, p. Arg257Ter) in both patients. The parents were heterozygous carriers of the variant.ConclusionIn this study, we identified two CMC patients of Chinese harboring AIRE mutations. These patients remind us the importance of genetic analysis in management of CMC, which then help to adjust the time of treatment, as well as to predict and early detect related complications.

Validation of the AGCU Expressmarker 20 + 20Y kit: A 6-dye multiplex assay for forensic application

The AGCU Expressmarker 20 + 20Y Kit is a newly devised short tandem repeat (STR) multiplex system that simultaneously analyses a set of 19 autosomal STR loci, 20 Y chromosomal STR loci and the amelogenin locus with six-dye fluorescent labelling. Here, the AGCU Expressmarker 20 + 20Y system was validated following the guidelines published by the Scientific Working Group on DNA Analysis Methods (SWGDAM), including PCR-condition, sensitivity, mixtures, species specificity, models of inhibition, precision, stutter percentage, concordance, population genetic studies, performance on three kinds of degraded DNA and a type of casework samples. The results indicated that the kit had high sensitivity when there was a small amount of DNA (0.0625 ng), more than one male (minor: major=1:19), or a mixture of males and females (male: female=1:32), models of inhibition (250 μM hematin, 1500 ng/μL humic acid and more than 100 ng/μL tannic acid) and degraded samples. The kit showed high precision level with standard deviation of allele size no more than 0.0930. Furthermore, this system was also tested in 444 random male samples of Chinese Han and Hui population, showing its high discrimination capability in Han and Hui population. Meanwhile, the system was applicable to the case of the AMELY abnormality. In short, the kit was verified and proved to be a robust, reliable and suitable tool for human identification and casework samples.

Internalizing Behavior Problems Among the Left-Behind Children of the Hui Nationality in Rural China: A Cross-Sectional Study

BackgroundThe internalizing behavior problems (IBPs) of left-behind children (LBC) due to parental migration are a widespread public health concern in China. A previous study showed that the detection rate of behavioral problems in the Hui was far higher than in the LBC of the Han nationality. However, to date, limited research has focused on IBPs in Chinese LBC of the Hui nationality. The aims of this present study are to explore the prevalence of IBPs and the influencing factors among the Hui LBC in the rural areas of China.MethodsA cross-sectional study was conducted among school students from the southern rural areas in Ningxia, China (2012–2013). The caregivers or parents assessed IBPs using Achenbach’s Child Behavior Checklist for parents. The children completed the Egma Minnen av Bardndosnauppforstran, Junior Eysenck Personality Questionnaire and Piers–Harris Children’s Self-concept Scale. Data on 383 Hui LBC aged 6–16 y were included in this study. Multivariate logistic regression analysis was used to examine the relationships between the independent variables and children’s internalizing behaviors.ResultsAmong the Hui population, the prevalence of IBPs in LBC and non-left-behind children (non-LBC) was 21.67% (83 of 383) and 18.18% (104 of 572), respectively, with no significant difference between these two groups (χ2 = 1.77 and P = 0.18). However, among males of the Hui population, the prevalence of IBPs in LBC was 22.16%, which is significantly higher than in non-LBC (14.07%; χ2 = 5.07; and P = 0.02). By controlling for gender and age, the multivariate logistic regression analysis showed that a mother highly favoring the subject (odds ratio [OR] = 2.70), average levels of neuroticism (OR = 9.01), and high levels of neuroticism (OR = 8.44) were risk factors for IBPs in Hui LBC.ConclusionOur findings suggest that IBPs among male LBC of the Hui nationality in rural China were positively related to parental migration. Positive measures should be taken to prevent IBPs of male LBC of the Hui nationality in rural China in terms of personality development and parental childrearing patterns.

Population data and phylogenetic structure of 19 STR loci in Chinese Hui ethnic group residing in Yunnan province of China

Allele frequency distributions and statistical forensic parameters of 19 autosomal STR loci in a sample of 535 unrelated healthy Hui individuals from Yunnan province were estimated. A total of 236 alleles at these loci were identified and their corresponding allele frequencies ranged from 0.000935 to 0.527103. Penta E is the most informative in Hui population, whereas TPOX showed the lowest. All of the STR loci reached the Hardy–Weinberg equilibrium after Bonferroni correction. The combined discrimination power and probability of excluding paternity of the 19 STR loci were 0.999 999 999 999 999 999 999 984 47 16 and 0.999 999 988, respectively. Furthermore, the genetic relationship between the Yunnan Hui population and other 8 different Hui groups or 25 previously investigated groups residing in other areas of China were also estimated based on pairwise genetic distance. These results suggest that the 19 STR loci are highly polymorphic, which is suitable for forensic personal identification and paternity testing.

Association between the IL-6 polymorphisms and coal workers’ pneumoconiosis in a Chinese Hui population

ObjectiveTo determine whether polymorphisms in IL-6 and IL-12 contribute to the etiology of coal workers’ pneumoconiosis (CWP) in a Chinese Hui population, and to evaluate the efficacy and safety of high frequency oscillatory ventilation (HFOV) in the treatment of CWP.IntroductionGenes and the environments interplay in the development of CWP, and the association between the potential functional polymorphisms in many genes and CWP have been reported.MethodsWe genotyped the IL-6-634C/G (rs1800796) and IL-12B-1188A/C (rs3212227) polymorphisms in a case-control study including 160 CWP patients and 150 dust-exposed control subjects of Chinese Hui population, and analyzed the associations between these genetic variants and CWP risk. We also evaluated the efficacy and safety of HFOV for whole lung lavage (WLL) in the treatment of CWP.ResultsCarrying the C allele of IL-6-634C/G (rs1800796) was associated with decreased risk of CWP ( p < 0.05). No significant differences in allele or genotype frequencies of IL-12B-1188A/C was found between the CWP cases and control subjects ( p > 0.05). Compared with CWP patients with routine WLL, CWP patients received HFOV showed better pulmonary functions. HFOV treatment also yield a significant higher efficient rate (97.50%) than WLL treatment (81.25%, p = 0.001). CWP patients receiving HFOV and WLL treatment both showed significantly increased serum contents of Clara cell protein 16 (CC16) and superoxide dismutase (SOD), and decreased serum contents of serum malonaldehyde (MDA). While the increasing of CC16 and SOD, and decreasing of MDA in patients receiving HFOV was more noticeable than patients receiving WLL.ConclusionsTaking together, the −634C/G polymorphisms in IL-6 play a role in the etiology of CWP. HFOV, when applied in CWP patients, significant improves their pulmonary functions.

Prevalence and risk factors of hypertension among Hui population in China: A systematic review and meta-analysis based on 30,565 study participants.

Background:Hypertension (HTN) has been considered as a health concern in developing countries. And Hui is a minority group with a large population in China. Its genetic background, inadequate access to health services, eating habits, religious belief, ethnic customs, and other factors differ from that of other ethnic groups, which may influence the prevalence of HTN. However, there is no current meta-analysis on the prevalence and risk factors of HTN among Hui population. Thus we conducted a systematic review aiming to estimate the pooled prevalence and risk factors of HTN among Hui population.Methods:PubMed, The Cochrane library, Web of science, CINAHL Complete, Weipu Database (VIP), China Knowledge Resource Integrated Database (CNKI), Wanfang Database, and SinoMed were systematically searched from inception to February 28, 2020 with publication language restricted to English and Chinese. We included cross-sectional, case–control, or cohort studies that focused on prevalence and risk factors of HTN among Hui population. Two investigators independently assessed the risk of bias of the studies included in the review using tools developed by JBI. Meta-analysis was conducted using Stata 12.0 software package.Results:Twenty-three studies were identified with a total of 30,565 study participants. The overall pooled prevalence of HTN was 28% (95% confidence interval [CI]: 24%–32%, I2 = 98.8%, P < .001). Stratified by gender, the pooled prevalence of HTN in Hui was 26% (95%CI: 20%–33%, I2 = 97.6%, P < .001) for males and 30% (95%CI: 23%–37%, I2 = 98.3%, P < .001) for females. Pooled prevalence of HTN in Hui was 2% (95%CI: 2%–6%, I2 = 70.6%, P = .065), 10% (95%CI: 3%–17%, I2 = 83.7%, P < .001), 22% (95%CI: 12%–32%, I2 = 87.9%, P < .001), 37% (95%CI: 20%–53%, I2 = 94.0%, P < .001), 39% (95%CI: 24%–54%, I2 = 97.7%, P < .001) and 42% (95%CI: 29%–56%, I2 = 95.6%, P < .001) for those aged 18 to 29, 30 to 39, 40 to 49, 50 to 59, 60 to 69, and ≥70 years, respectively. Pooled prevalence of HTN in Hui was 22% (95%CI: 14%–29%, I2 = 97.9%, P < .001) in urban areas and 23% (95%CI: 16%–30%, I2 = 95.8%, P < .001) in rural areas. Daily salt intake (odd ratio [OR] = 3.94, 95%CI: 3.03–5.13, I2 = 90.2%, P < 001), family history (OR = 3.50, 95%CI: 2.60–4.71, I2 = 95.3%, P < .001), smoking (OR = 1.84, 95%CI: 1.61–2.09, I2 = 59.6%, P < .001), drinking (OR = 1.74, 95%CI: 1.26–2.39, I2 = 95.3%, P = .001), weekly meat intake (OR = 1.92, 95%CI: 1.04–3.54, I2 = 96.5%, P = .036), body mass index (OR = 2.20, 95%CI: 1.81–2.66, I2 = 91.3%, P < .001), and areas (OR = 1.29, 95%CI: 1.10–1.51, I2 = 81.5%, P = .001) were risk factors of HTN in Hui, while physical exercise (OR = 0.76, 95%CI: 0.66–0.88, I2 = 62.7%, P < .001) was protective factor.Conclusions:The pooled prevalence of HTN among Hui people was 28%, daily salt intake, family history, drinking, smoking, weekly meat intake, body mass index, areas, and physical exercise were all risk factors for HTN among Hui population. Early screening and treatment of HTN among Hui population should be given due attention.

Genetic analysis of 32 InDels in four ethnic minorities from Chinese Xinjiang

The present study used the previously constructed 32-plex InDels panel to investigated the genetic diversity of four ethnic minorities (Hui, Mongol, Uygur and Kazakh) from Xinjiang, and analyzed the genetic relationships between the four populations and 27 reference populations. No significant deviations were observed from the Hardy-Weinberg equilibrium (HWE) at the 32 InDels for each population. The average observed heterozygosity (Hexp), average polymorphic information content (PIC), combined power of discrimination (CPD) and cumulative probability of exclusion (CPE) for the 32 InDels were all higher than the Qiagen Investigator DIPplex kit in the four populations from Xinjiang. The CPD ranged from 0.999999999999903 (Kazakh) to 0.999999999999952 (Hui) and CPE ranged from 0.9971 (Uygur) to 0.9985 (Hui), which indicated that the 32 InDels were capable for individual identification and could be a supplementary tool in paternity test for these populations. Population genetic analysis by the method of analysis of molecular variance (AMOVA), FST, phylogenetic tree, TreeMix-based topology, multi-dimensional scale analysis (MDS), principal components analysis (PCA) and STRUCTURE analysis showed that Xinjiang Hui population has a close relationship with East Asians (EAS), especially Chinese Han, and the populations of Xinjiang Mongol, Uygur and Kazakh showed mixed ancestral components related to EAS and Europeans (EUR).

Paternal genetic structure of Shandong Han and Hui populations

Paternal genetic structure of Shandong Han and Hui populations

Distribution of HLA-DQA1, -DQB1 and -DRB1 genes and haplotypes in Han, Uyghur, Kazakh and Hui populations inhabiting Xinjiang Uyghur Autonomous Region, China.

Genetic polymorphisms of human leucocyte antigen (HLA)-DRB1, -DQA1 and -DQB1 among four main ethnic groups including Han (n=70), Uyghur (n=71), Kazakh (n=52) and Hui (n=40) subjects from Xinjiang Uyghur Autonomous Region were investigated using a polymerase chain reaction-sequence-based typing (PCR-SBT). In total, 32 HLA-DRB1 alleles, eight HLA-DQA1 alleles and 14 HLA-DQB1 alleles were identified. The most predominant HLA-DRB1, -DQA1 and -DQB1 alleles were DRB1*15:01 (12.50%), DQA1*01:02 (21.43%) and DQB1*03:01 (19.29%) in Han; DRB1*07:01 (18.48%), DQA1*05:01/03/05 (24.65%) and DQB1*02:01/02 (31.69%) in Uyghur; and DRB1*13:01 (13.64%), DQA1*05:01/03/05 (28.85%) and DQB1*02:01/02 (27.88%) in Kazakh, respectively. In Hui, DRB1*07:01, DRB1*11:01 and DRB1*14:01 were the most dominant alleles with the same frequency of 11.8%, while the predominant DQA1 and DQB1 alleles were DQA1*03:01/02/03 (23.75%) and DQB1*02:01/02 (16.25%), respectively. In addition, the most common two-locus haplotypes were DQA1*05:01/03/5-DQB1*03:01 (10.0%) in Han; DQA1*02:01-DQB1*02:01/02 (18.31%) in Uyghur; DQA1*05:01/03/05-DQB1*02:01/02 (15.38%) in Kazakh; and DQA1*03:01/02/03-DQB1*03:03 (11.25%) in Hui. The phylogenetic dendrograms constructed based on the allele frequencies of HLA-DRB1, -DQA1 and -DQB1 in 13 populations (e.g. Asian, Central Asian and European) revealed that the Han and Hui populations were clustered together and closest to Han population from China, while the Kazakh and Uyghur populations were closest to each other and two ethnic groups were clustered together with Central Asian and European populations.

Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China

Chinese newborns have been screened for inborn errors of metabolism (IEM) for over 20 years. Although China features 56 different ethnic groups, there are no specific data describing the incidence of such genetic errors across difference ethnicities. To understand the ethnic preference distribution of the incidence and variants of IEM in the Ningxia Hui Autonomous Region of China, 189,354 newborns from 2016 to 2019 were screened by tandem mass spectrometry, including 87,482 from the Han ethnic population, 88,229 from the Hui population, 1,103 from other ethnicities, and 12,540 infants without ethnic registration. Suspected cases then underwent specific genetic profiling by targeted next generation sequencing. In total, 160 patients were diagnosed with 17 types of IEM, with a significant higher incidence in Hui infants (1/1,003) than in Han infants (1/1,232). Five diseases (eight patients) were specifically detected in Han infants, while three were exclusively diagnosed in six Hui infants. For shared diseases, the variants of keys genes also showed ethnic preference. Our findings enhance our understanding of the genetics underlying IEM, thus promoting the development of treatment plans for patients from different areas or ethnicities in China.

Genetic polymorphism of 24 Y-STR loci in Altay Hui and Kazakh populations from northwest China.

24 Y-STR loci were analyzed in 223 Altay Hui individuals and 209 Altay Kazakh individuals. Haplotype diversity (HD) and discrimination capacity (DC) values were calculated. Population pairwise genetic distances (Rst) were evaluated in AMOVA analysis and compared between two studied populations and other populations. The relationships between populations were visualized through multidimensional scaling (MDS) and neighbor-joining (NJ) tree. The results indicated higher discrimination power in the Altay Kazakh and Hui populations. The Altay Kazakh was the most distantly related to Xishuangbanna Dai, while Altay Kazakh was the most closely related to Gansu Kazakh. The results may provide useful information for paternal lineages and increase our understanding of genetic relationships between two studied populations and other populations.

The AGT Haplotype of the ESR2 Gene Containing the Polymorphisms rs2077647A, rs4986938G, and rs1256049T Increases the Susceptibility of Unexplained Recurrent Spontaneous Abortion in Women in the Chinese Hui Population.

BackgroundEstrogen has an important role in unexplained recurrent spontaneous abortion (URSA). Polymorphisms of the ESR1 gene and the ESR2 gene have been identified as risk factors for URSA, but with varied associations in Chinese populations. This study aimed to compare the role of gene polymorphisms of ESR1 and ESR2 and the risk of URSA in the Chinese Hui and Chinese Han populations.Material/MethodsChinese Hui women (n=171) and Chinese Han women (n=234) with URSA were compared with healthy controls (n=417) matched by ethnicity and age. Genotyping was performed using direct sequencing and identified three polymorphisms of the ESR1 gene (rs9340799, rs2234693, and rs3798759) and three polymorphisms of the ESR2 gene (rs207764, rs4986938, and rs1256049). The association between ESR1 and ESR2 gene polymorphisms and the risk of URSA was evaluated statistically using the odds ratio (OR) and 95% confidence interval (CI).ResultsNo association was detected between the allelic, dominant, and recessive models of ESR1 and ESR2 gene polymorphisms and the risk of URSA in Chinese Han and Hui populations (p>0.05). The distribution of the AGT haplotype containing ESR2 gene polymorphisms rs2077647A, rs4986938G, and rs1256049T was significantly reduced in patients with URSA compared with controls in the Chinese Hui population (OR, 0.29; 95% CI, 0.14–0.62; p=0.0009; padj=0.005).ConclusionsThe AGT haplotype of the ESR2 gene containing the polymorphism rs2077647A, rs4986938G, and rs1256049T (ESR2 hapAGT) was a protective factor for URSA in women in the Chinese Hui population when compared with the Chinese Han population.

Genetic variation and population structure analysis of Chinese Wuzhong Hui population using 30 Indels

Background: Insertions and deletions (Indels) have been used in routine forensic studies, archaeology, and population genetics. They have certain advantages, such as absence of stutter, small amplicon lengths, and low mutation rates. The genetic variations and forensic features of Indels in the Wuzhong Hui population are, as yet, unclear.Aim: To investigate the genetic polymorphisms of 30 Indels in Wuzhong Hui people and explore their genetic relationship with 48 reference populations from all over the world.Subjects and methods: We genotyped 30 Indels included in the Investigator DIPplex Kit in 156 Wuzhong Hui individuals. The genetic polymorphisms and population genetic relationships were analysed and explored via pairwise Fst, principal component analysis, multidimensional scaling plots, phylogenetic tree, and structure.Results: The combined power of discrimination (CPD) and the combined probability of exclusion (CPE) were 0.9999999999899 and 0.9880, respectively. Population genetic diversity and affinity were associated with geographic origin and linguistic affiliation.Conclusions: The 30 Indels can be utilised as an important tool in forensic personal identification and as a supplementary method in paternity testing in Wuzhong Hui. The Wuzhong Hui people have a close genetic relationship with populations of geographical proximity and Sinitic-speaking populations, while they are different from other continental populations and Turkic-speaking populations.

Ethnic Differences Shape the Alpha but Not Beta Diversity of Gut Microbiota from School Children in the Absence of Environmental Differences.

Although the human gut microbiome is shaped by factors such as diet, environment, and genetic background, most studies investigating the relationship between ethnicity and microbiota have compared groups living in separate geographical locations. To isolate the effects of ethnicity on microbial diversity by minimizing environmental differences, we selected 143 school children from Han, Tibetan, and Hui populations from the same town on the Qinghai–Tibetan Plateau for fecal microbiome 16S rDNA sequencing. We characterized the diversity, identified signature taxa, and performed correlation analysis between diet and community composition. Firmicutes (47.61%) and Bacteroidetes (38.05%) were dominant phyla among the three ethnic groups; seven genera showed significant differences in relative abundance. Tibetan populations had a higher relative abundance of Oscillibacter and Barnesiella, compared with Han and Hui populations. Alpha diversity analyses (observed species, ACE, and Shannon indices) showed that the Tibetan population had the highest diversity compared to the Hui and Han groups, whereas beta diversity analysis revealed no significant differences between groups. The consumption of grains, milk, eggs, and fruits were positively correlated with specific taxa. Under similar environments and diet, ethnic background significantly contributed to differences in alpha diversity but not beta diversity of gut microbiota.