Zhuang Population Research Articles

Associations between end stage renal disease and HLA polymorphisms in the Guangxi Zhuang population

To investigate the genetic relationship between end stage renal disease (ESRD) and human leukocyte antigen (HLA) alleles in the Guangxi Zhuang population. We performed polymerase chain reaction reversed sequence-specific oligonucleotide (PCR-rSSO) in 325 patients with ESRD and genotyped the HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 loci. The direct counting method was used to determine the frequencies of HLA alleles, and Arlequin software (version 3.5.2.2) was used for haplotypic frequency analyses to compare the included ESRD patients with 350 healthy donors from the Guangxi Zhuang population. In our study, 120 HLA alleles, 284 HLA-A-B-DRB1 haplotypes, and 332 HLA-A-C-B-DRB1-DQB1 haplotypes were detected. We found that only A*11:01-B*15:02-DRB1*12:02 had a positive association with ESRD (P = 0.001, Pc = 0.020, OR = 3.106, 95% CI = 1.497–6.446) after Bonferroni correction; thus, individuals with this haplotype may be susceptible to ESRD. A*11:01-B*15:02-DRB1*12:02 is a potentially valuable haplotype for evaluating the risk of ESRD in the Guangxi Zhuang population.

Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and susceptibility to dental caries.

The aim was to assess the associations between the LTF, MMP20, CA6, and TAS1R2 polymorphisms and caries in the Zhuang population and explore the underlying mechanism of the impact of lactoferrin on caries susceptibility. A case-control study of 315 adolescents was conducted in Guangxi, China, from May-November 2022. Data were collected through oral examinations and questionnaires. Buccal mucosa cells and DNA samples were collected using the SNPscan technique. Saliva and supragingival plaque samples were taken from 69 subjects with various LTF rs10865941 genotypes. The relationships among the LTF rs10865941 polymorphism, lactoferrin, Streptococcus mutans, and caries were investigated by using the ELISA and qRT-PCR, along with logistic regression analysis. The genotype distribution of the LTF gene were significantly different between the case and control groups (p = 0.018). The case group had lower C allele and greater T allele frequencies than the control group (p = 0.006). The LTF rs10865941 polymorphism was associated with caries in the codominant, dominant, and additive models (p < 0.05). MMP20 rs1784418, CA6 rs2274328, and TAS1R2 rs35874116 were not significantly different between the two groups (p > 0.05). A greater quantity of S. mutans. in the supragingival plaque was found in the case group (p = 0.03). There were significant differences between the two groups in both the codominant model and the dominant model (p < 0.05). The LTF rs10865941 polymorphism may be associated with caries susceptibility in the Zhuang population of China. The LTF rs10865941 T allele may be a potential risk factor for dental caries.

Exploration of Risk Factors for Hemorrhoids in the Zhuang Population of Guangxi: A Case-Control Study

Background The prevalence of hemorrhoids in Chinese urban and rural residents is very high. However, the factors affecting the occurrence of hemorrhoids are not very clear, which is disadvantageous to the prevention of hemorrhoids. Objective: To explore the external environment and behavioral influencing factors of hemorrhoidsin the Zhuang population of Guangxi, China, and provide a basis for the prevention of hemorrhoids. Methodology: A case-control study method was used to collect hemorrhoid patients and non-hemorrhoid patients from the same hospital and department as the case group and control group. A self-made questionnaire was used to investigate the education level, family income, alcohol consumption, diet, taste, work position, and other information of the two groups of patients, and logistic regression was used to analyze the correlation between various exposure factors and hemorrhoids. Result: A total of 11 variables were analyzed in this study, and it was found that education level, constipation, chronic gastritis, and dietary taste were associated with hemorrhoids (OR=2.02, 95% CI: 1.16, 3.52; OR=2.70, 95% CI: 1.50, 4.87; OR=1.96, 95% CI: 1.14, 3.36; OR=0.50, 95% CI: 0.28, 0.89). Conclusion Education level, constipation, and chronic gastritis can increase the risk of hemorrhoids, while bland diet can reduce the risk of hemorrhoids.

Evaluation of CYP2C19 Genetic Variant and Its Lack of Association with Valproic Acid Plasma Concentrations Among Zhuang and Han Schizophrenia Patients in Guangxi.

To investigate the CYP2C19 genotype distribution and allelic frequency among the Zhuang and Han schizophrenic populations in Guangxi, examine the correlation between CYP2C19 genetic variants and standardized blood levels of Valproic Acid (VPA) in schizophrenic patients, and evaluate the effects of age, gender, and Body Mass Index (BMI) on standardized VPA blood concentrations. Between February and December 2022, 192 Zhuang and Han schizophrenia patients treated with VPA were studied. Steady-state VPA concentrations were determined using homogeneous enzyme immunoassays, and CYP2C19 *1, *2, and *3 loci via q-PCR. CYP2C19 genotype distributions between Zhuang and Han groups in Nanning were compared using chi-square tests and contrasted with other ethnicities. Non-parametric tests analyzed VPA variations, identifying critical factors through multivariate stepwise regression. The study identified five CYP2C19 genotypes at the *2 and *3 loci, with the *3/*3 genotype absent in both cohorts. The CYP2C19 distribution in Guangxi Zhuang and Han mirrors, yet diverges significantly from Hui and Kazakh groups. Among 192 subjects, VPA blood levels remained consistent across metabolic types and ages 18-60 but varied significantly by gender. Multivariate analysis revealed gender and BMI as significant factors, overshadowing CYP2C19 genotype and age. In Guangxi, CYP2C19 genetic variants in Zhuang and Han schizophrenia patients demonstrate statistically indistinguishable allelic and metabolic distributions. Gender and BMI can influence standardized VPA blood concentrations in schizophrenia patients. However, in our study cohort, the CYP2C19 genotype and age are not the primary determinants of standardized VPA blood levels.

Very important pharmacogenetic variants landscape and potential clinical relevance in the Zhuang population from Yunnan province

The gradual evolution of pharmacogenomics has shed light on the genetic basis for inter-individual drug response variations across diverse populations. This study aimed to identify pharmacogenomic variants that differ in Zhuang population compared with other populations and investigate their potential clinical relevance in gene-drug and genotypic-phenotypic associations. A total of 48 variants from 24 genes were genotyped in 200 Zhuang subjects using the Agena MassARRAY platform. The allele frequencies and genotype distribution data of 26 populations were obtained from the 1000 Genomes Project, followed by a comparison and statistical analysis. After Bonferroni correction, significant differences in genotype frequencies were observed of CYP3A5 (rs776746), ACE (rs4291), KCNH2 (rs1805123), and CYP2D6 (rs1065852) between the Zhuang population and the other 26 populations. It was also found that the Chinese Dai in Xishuangbanna, China, Han Chinese in Beijing, China, and Southern Han Chinese, China showed least deviation from the Zhuang population. The Esan in Nigeria, Gambian in Western Division, The Gambia, and Yoruba in Ibadan, Nigeria exhibited the largest differences. This was also proved by structural analysis, Fst analysis and phylogenetic tree. Furthermore, these differential variants may be associated with the pharmacological efficacy and toxicity of Captopril, Amlodipine, Lisinopril, metoclopramide, and alpha-hydroxymetoprolol in the Zhuang population. Our study has filled the gap of pharmacogenomic information in the Zhuang population and has provided a theoretical framework for the secure administration of drugs in the Zhuang population.

Drug resistance and influencing factors in HIV-1-infected individuals under antiretroviral therapy in Guangxi, China.

To assess the profiles and determinants of drug resistance in HIV-1-infected individuals undergoing ART in Guangxi. Samples and data were collected from HIV-1-infected individuals experiencing virological failure post-ART from 14 cities in Guangxi. Sequencing of the HIV-1 pol gene was conducted, followed by analysis for drug resistance mutations using the Stanford University HIV Drug Resistance Database. Logistic regression was employed to identify potential risk factors associated with both HIV drug resistance and mortality. A total of 8963 individuals with pol sequences were included in this study. The overall prevalence of HIV-1 drug resistance (HIVDR) was 42.43% (3808/8963), showing a decrease from 59.62% to 41.40% from 2016 to 2023. Factors such as being aged ≥50 years, male, Han nationality, lower education levels, occupations including workers, peasants and children, AIDS, pre-treatment CD4 T cell counts <200 cells/mm3, infection with CRF01_AE and CRF55_01B subtypes, and ART regimen lamivudine/zidovudine/nevirapine were associated with higher susceptibility to HIVDR. The common mutations were M184V (17.38%) and K103N (22.14%). Additionally, the prevalence of M184V, S68G, M41L and G190A were different between the Han and Zhuang populations. Factors including age, gender, ethnicity, education level, occupation, infectious route, clinical stage, viral load, subtype, ART regimen and HIVDR showed significant associations with mortality. The factors contributing to drug resistance in the HIV-1 ART individuals in Guangxi appear to be notably intricate. Continuous reinforcement of drug resistance surveillance is imperative, accompanied by the optimization of ART regimens to mitigate virological failures effectively.

Correlation between urinary rare earth elements and liver function in a Zhuang population aged 35–74 years in Nanning

BackgroundAnimal studies have shown that exposure to REEs can cause severe liver damage, but evidence from population studies is still lacking. Therefore, we investigated the relationship between REEs concentrations in urine and liver function in the population. MethodsWe conducted a cross-sectional study on 1024 participants in Nanning, China. An inductively coupled plasma mass spectrometer (ICP-MS) was used to detect the concentrations of 12 REEs in urine. The relationship between individual exposure to individual REE and liver function was analyzed by multiple linear regression. Finally, the effects of co-exposure to 5 REEs on liver function were assessed by a weighted sum of quartiles (WQS) regression model and a Bayesian kernel machine regression (BKMR) model. ResultsThe detection rate of 5 REEs, lanthanum (La), cerium (Ce), praseodymium (Pr), neodymium (Nd), and dysprosium (Dy), is greater than 60%. After multiple factor correction, La, Ce, Pr, Nd, and Dy were positively correlated with serum ALP, Ce, Pr, and Nd were positively correlated with serum AST, while Ce was negatively correlated with serum TBIL and DBIL. Both WQS and BKMR results indicate that the co-exposure of the 5 REEs is positively correlated with serum ALP and AST, while negatively correlated with serum DBIL. There were potential interactions between La and Ce, La and Dy in the association of co-exposure of the 5 REEs with serum ALP. ConclusionsThe co-exposure of the 5 REEs was positively correlated with serum ALP and AST, and negatively correlated with serum DBIL.

Importance of GWAS Risk Loci and Clinical Data in Predicting Asthma Using Machine-learning Approaches.

To understand the risk factors of asthma, we combined genome-wide association study (GWAS) risk loci and clinical data in predicting asthma using machine-learning approaches. A case-control study with 123 asthmatics and 100 controls was conducted in the Zhuang population in Guangxi. GWAS risk loci were detected using polymerase chain reaction, and clinical data were collected. Machine-learning approaches were used to identify the major factors that contribute to asthma. A total of 14 GWAS risk loci with clinical data were analyzed on the basis of 10 times the 10-fold cross-validation for all machine-learning models. Using GWAS risk loci or clinical data, the best performances exhibited area under the curve (AUC) values of 64.3% and 71.4%, respectively. Combining GWAS risk loci and clinical data, the XGBoost established the best model with an AUC of 79.7%, indicating that the combination of genetics and clinical data can enable improved performance. We then sorted the importance of features and found the top six risk factors for predicting asthma to be rs3117098, rs7775228, family history, rs2305480, rs4833095, and body mass index. Asthma-prediction models based on GWAS risk loci and clinical data can accurately predict asthma, and thus provide insights into the disease pathogenesis.

Current Status of Metabolic Compliance and Risk of Cardiovascular Disease in Patients with Type 2 Diabetes in the Zhuang Population in China.

This study aimed to investigate the blood glucose, blood pressure, and blood lipid status in Zhuang patients with T2DM and to analyze the correlation between compliance with metabolic monitoring and cardiovascular risk factors. A total of 1975 Zhuang patients with T2DM were evaluated in four Class III Grade A hospitals in three prefecture-level cities in the Guangxi Zhuang Autonomous Region between January and August 2022. Laboratory indicators, lifestyle, and demographic characteristics were collected. The compliance rates for blood glucose, blood pressure, and blood lipids were 26.08%, 45.77%, and 30.58%, respectively, and only 5.06% of the patients reached the standard in all three indices. The compliance rates for blood glucose, blood pressure, and blood lipids in the CVD group were 32.92%, 21.74%, and 9.94%, respectively. In the CVD group, the usage rates of hypoglycemic, antihypertensive, and lipid-lowering drugs were 77.54%, 3.17%, and 4.11%, respectively. Binary logistic regression analysis showed that older age (OR = 1.033, 95% CI [1.016, 1.050]), female (OR = 0.402, 95% CI [0.260, 0.621]), smoke (OR = 1.994, 95% CI [1.361, 2.922]), blood pressure noncompliance + use of antihypertensive drugs (OR = 0.348, 95% CI [0.230, 0.527]), and blood lipid noncompliance + use of lipid-lowering drugs (OR = 0.244, 95% CI [0.142, 0.417]) were risk factors for CVDs, and moderate-intensity exercise (OR = 0.439, 95% CI [0.300,0.640]) was protective against CVD. Older age, female, smoke, blood lipid levels, and blood pressure noncompliance were risk factors for CVD while moderate-intensity exercise was observed to be protective.

Triglyceride variability affects diabetic kidney disease in middle-aged and elderly people with type 2 diabetes mellitus in the Guangxi Zhuang population

Triglyceride variability affects diabetic kidney disease in middle-aged and elderly people with type 2 diabetes mellitus in the Guangxi Zhuang population

Association Between the SLC2A2 Gene rs1499821 Polymorphism and Caries Susceptibility.

Objectives: This study was designed to analyze the association between the SLC2A2 rs1499821 polymorphism and caries susceptibility in the Chinese Han, Zhuang, and Baikuyao populations. Materials and Methods: The present case-control study included 1067 12-year-old children: 481 with caries (142 Han, 166 Zhuang and 173 Baikuyao) and 586 who were caries-free (135 Han, 178 Zhuang and 273 Baikuyao). Questionnaires about diet and oral habits were obtained from all subjects. All of the children received dental examinations and DNA collection. The SLC2A2 rs1499821 SNP was genotyped using the SNPscan technique. Results: The rs1499821 T polymorphism was significantly associated with caries susceptibility in both the Han population and the combined populations of the three ethnic subgroups. SLC2A2 rs1499821 was associated with caries susceptibility in the dominant model in the Han (p = 0.045) population and the combined (p = 0.038) group. The CT+TT genotypes at rs1499821 were associated with a higher risk of caries in the Han (OR = 1.69, adjusted 95% CI: 1.01-2.81) and combined (OR = 1.33, adjusted 95% CI: 1.02-1.74) populations. In both Han (p = 0.009) and the combined populations (p = 0.004), there were statistically significant associations between the frequency of sweet food intake and dental caries. However, the rs1499821 polymorphisms did not associate with the frequency of sweet food intake in these ethnic subgroups. Conclusion: In the Han population, the SLC2A2 rs1499821 T allele and the frequency of sweet food intake may be regarded as risk factors for caries susceptibility. The SLC2A2 rs1499821 T allele had no association with the frequency of sweet food intake in any of the three ethnic groups.

The relationship between sleep duration and activities of daily living (ADL) disability in the Chinese oldest-old: A cross-sectional study.

To investigate the relationship between sleep duration and activities of daily living (ADL) disability, and to explore the optimal sleep duration among oldest-old Chinese individuals. In this cross-sectional study, 1,798 participants (73.2% female) were recruited from Dongxing and Shanglin in Guangxi Zhuang Autonomous Region, China in 2019. The restricted cubic spline function was used to assess the dose-response relationship between sleep duration and ADL disability, and the odds ratios (ORs) of the associations were estimated by logistic regression models. The overall prevalence of ADL disability was 63% (64% in females and 58% in males). The prevalence was 71% in the Han population (72% in females and 68% in males), 60% in the Zhuang population (62% in females and 54% in males) and 53% in other ethnic population (53% in females and 53% in males). A nonlinear relationship between sleep duration and ADL disability was observed. Sleep duration of 8-10 hours was associated with the lowest risk of ADL disability. Sleep duration (≥12 hours) was associated with the risk of ADL disability among the oldest-old individuals after adjusting for confounding factors (OR = 1.47, 95% CI [1.02, 2.10], p<0.05). Sleep duration more than 12 hours may be associated with an increased risk of ADL disability in the oldest-old individuals, and the optimal sleep duration among this population could be 8-10 h.

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.

Objectives: Baise, a multiethnic inhabited area of southwestern China, is a historical malaria-endemic area with a high prevalence of G6PD deficiency. However, few studies of G6PD deficiency have been conducted in this region. Therefore, we performed a genetic analysis of G6PD deficiency in the Baise population from January 2020 to June 2021. Methods: A SNPscan assay was developed to simultaneously detect 33 common Chinese G6PD mutations. 30 G6PD-deficient samples were used for the method's validation. Then, a total of 709 suspected G6PD-deficient samples collated from the Baise population were evaluated for G6PD status, type of mutation and effect of mutations. Results: The SNPscan test had a sensitivity of 100% [95% confidence interval (CI): 94.87%-100%] and a specificity of 100% (95% CI: 87.66%-100%) for identifying G6PD mutations. A total of fifteen mutations were identified from 76.72% (544/709) of the samples. The most common mutation was discovered to be G6PD Kaiping (24.12%), followed by G6PD Canton (17.91%), and G6PD Gaohe (11.28%). We compared the G6PD mutation spectrum among Zhuang, Han and other Southeast Asian populations, and the Zhuang population's mutation distribution was quite similar to that in the Han population. Conclusion: This study provided a detailed G6PD mutation spectrum in Baise of southwestern China and will be valuable for the diagnosis and research of G6PD deficiency in this area. Furthermore, the SNPscan assay could be used to quickly diagnose these G6PD mutations accurately.

Genetic polymorphisms of 19 X-STRs in populations of Hubei Han and Guangxi Zhuang and their comparisons with 13 other Chinese populations

Background A prerequisite for applying short tandem repeat (STR) kits is obtaining population allele and/or haplotype frequencies and forensic parameters. Aim Firstly, we aimed to investigate the population data of 19 X-chromosomal STRs (X-STRs) included in the AGCU X19 STR kit in the Han people residing in Hubei Province, Central China, and the Zhuang people residing in the Guangxi Zhuang Autonomous Region of South China. Furthermore, we compared these population data with those for other Chinese populations. Subjects and methods In total, 509 unrelated Han males and 266 unrelated Zhuang males were genotyped using the AGCU X19 STR kit. Allele frequencies, haplotype frequencies, and forensic parameters were computed, and genetic differences among 15 Chinese populations were analysed. Results The 19 X-STRs showed a high power of discrimination and high mean chance of exclusion, whether calculated using allele or haplotype frequencies. Major differences were found between Han and Oroqen, Uyghur, Mongolian, Tibetan, Li, and Yi populations. Aberrant biallelic patterns at DXS10159, DXS10134, and DXS10079 and allelic dropouts at DXS10164 were observed. Conclusion The 19 X-STRs were highly polymorphic in the Hubei Han and Guangxi Zhuang populations, and the AGCU X19 STR kit was shown to be suitable for forensic casework.

Application of human data to predict hamstring tendon autograft diameter in Zhuang population

To explore the value of human data from the Zhuang population via predicting the diameter of the hamstring tendon autograft in anterior cruciate ligament (ACL) reconstruction and determining the feasibility of preoperative ultrasound for prediction. In total, 24 Zhuang patients who underwent ACL reconstruction with a 4-strand semitendinosus and gracilis tendon autograft (4 S-STG) were enrolled in this study. Before the operation, the affected semitendinosus tendon (ST) was examined by ultrasonography, and its length, diameter, cross-sectional area, and circumference were measured. The patients' basic information and body data, ie, height, weight, body mass index, lower limb length injured, and thigh circumference injured, were recorded. Their ST and gracilis tendon lengths and diameters and 4 S-STG diameter were measured during the operation. A correlation analysis was conducted between the ultrasound measurement results and human data and intraoperative tendon measurements. The ST diameter measured by ultrasound was correlated with the ST length and ST diameter measured during operation, and the ST circumference measured by ultrasound was correlated with the ST diameter measured during operation. The patients' body weight can be used to distinguish a 4 S-STG diameter of ≥8 mm (P< .01, mean difference=11.59). The area under the receiver operating characteristic curve of body weight was 0.829. The final graft diameter ≥8 mm could be predicted with a body weight of 61.5kg as the cutoff point; the sensitivity and specificity were 72.2% and 83.3%, respectively. In Zhuang patients undergoing ACL reconstruction with 4 S-STG, body weight more accurately predicted graft diameter than preoperative semitendinosus diameter.

Predicting autologous hamstring graft diameter and finding reliable measurement levels in the Zhuang population using preoperative ultrasonography.

Purpose: To evaluate the feasibility of using ultrasonography to preoperatively predict the autologous hamstring graft diameter for anterior cruciate ligament (ACL) reconstruction in the Zhuang population and determine a reliable measurement level using ultrasound. Methods: Twenty-four Zhuang patients who were scheduled for ACL reconstruction using four-strand semitendinosus tendon (ST) and gracilis tendon (G) (4S-STG) autografts were included in this study. Ultrasonographic examinations of the ST and the G on the damaged side were conducted before the operation. We recorded the transverse diameter (TD), anterior–posterior diameter (APD), cross-sectional area (CSA), and perimeter (P) of the tendons. The measurements were obtained from two levels of the tendons: the widest point of the medial femoral epicondyle (level 1) and the myotendinous junction of the sartorius (level 2). We also calculated the combined (ST + G) TD, APD, CSA, and p values. Then, we obtained the intraoperative measurements. The correlation between the ultrasonic and intraoperative measurements was analyzed, and the advantages of the ultrasonic measurements at the two different levels were compared. Results: When we measured at level 1, we found that part of the ultrasonic measurements were correlated with intraoperative measurements. The preoperative CSA of the G (P-GCSA) can be used to distinguish a 4S-STG autograft diameter of ≥8 mm (p < 0.01, mean difference = 3.7). The area under the P-GCSA curve was 0.801 (p < 0.05). A P-GCSA of 8.5 mm2 could be used to predict a 4S-STG autograft diameter of ≥8 mm with a sensitivity of 61.1% and specificity of 83.3%. However, there was no correlation between the ultrasonic and intraoperative measurements at level 2. Conclusion: Preoperative ultrasound can be used to predict the sufficient diameter of 4S-STG autografts when considering patients from Zhuang who are undergoing ACL reconstruction. The ultrasonic measurement should be obtained at the widest point of the medial femoral epicondyle.

Genetic structure and paternal admixture of the modern Chinese Zhuang population based on 37 Y-STRs and 233 Y-SNPs

The Zhuang are the largest minority group in China and the aboriginal people of the Guangxi Zhuang Autonomous Region. Over thousands of years, the gene pool of the Zhuang has been shaped by the genetic admixture with the Han Chinese. However, little is known about the paternal genetic structure of the modern Zhuang people. Here, we used a high-resolution panel comprising 233 Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) and 37 Y-chromosomal short tandem repeats (Y-STRs) to illuminate the paternal genetic structure and affinities of the Zhuang population. Their Y-SNP haplogroup diversity reached 0.9580 with 44 different subhaplogroups and their Y-STR haplotype diversity reached 1.0. Several bioinformatics analyses were conducted comparing the Zhuang to various reference populations worldwide. Mismatch analysis suggested extensive intermarriages between the Zhuang and O2-dominant groups such as the Han. Genetic clustering analysis of Y-STRs revealed broad genetic affinities between the Zhuang and several geographically, linguistically, and the ethnically related groups such as the southern Han, Bouyei, Li, Miao, and Yao from China. Principal Component Analysis of Y-SNPs demonstrated long-term close genetic relationships among the Zhuang people, Hainan Han, Guangdong Han, and Southeast Asians. Combined Y-STR/Y-SNP analysis showed the Zhuang people and the Hainan Han share common ancestry, illuminating the patrilineal descent of the Zhuang and lending genetic support to commonly accepted ideas regarding the origin of the Hainan Han. Our analysis of Y-SNPs and Y-STRs not only revealed the fine-scale genetic structure of the Zhuang population, but also illuminated their paternal derivation, which is defined by the common ancestry with the Hainan Han, the introgression of southern Chinese groups such as the Han, Bouyei, Li, Miao, and Yao, the long-term phylogenetic relationships with Southeast Asians.

Association of MTOR and PDGFRA gene polymorphisms with different degrees of myopia severity

This study aims to investigate the associations of SNPs in the mammalian target of rapamycin (MTOR) and the platelet derived growth factor receptor alpha (PDGFRA) genes with different degrees of myopia severity in Han and Zhuang populations. The SNPs of MTOR (rs1057079, rs1064261, and rs2536) and PDGFRA (rs1800812, rs35597368, rs4358459, rs6554162, and rs7677751) were analyzed among 1347 patients with myopia (849 patients with high myopia and 498 patients with mild to moderate myopia) and 453 controls without myopia in Guangxi, China (collected 2016–2018). Genetic model association analysis was performed on each SNP in different myopia subgroups. The associations of rs1057079 and rs1064261 with mild to moderate myopia were observed under the dominant models (rs1057079: OR = 1.324, 95%CI: 1.005–1.744, P = 0.046; rs1064261: OR = 1.597, 95%CI: 1.099–2.319, P = 0.014). However, the association of SNP rs1057079 could not withstand multiple correction. The number of adverse genotypes in each sample was counted. Results showed that in the high myopia group, the levels of risk of myopia in patients carrying three to four and five to eight adverse genotypes were 1.734 and 2.062 times the level of risk in patients carrying two or lower genotypes, respectively. After the stratified analyses of Han and Zhuang populations, the Zhuang populations consistently had high frequencies of myopia. This study provides evidence suggesting that the MTOR and PDGFRA genes are associated with different degrees of myopia severity and have gene–gene interactions. In addition, this study discovered a new SNP of MTOR (rs1064261) that is associated with myopia. Thus, further longitudinal studies are warranted.

The Correlation Between MYO9B Gene Polymorphism and Inflammatory Bowel Disease in the Guangxi Zhuang Population.

ObjectiveTo analyze the correlation between site rs962917 of the MYO9B gene and inflammatory bowel disease (IBD) in the Guangxi Zhuang nationality population.MethodsThe intestinal mucosa tissue of 153 IBD subjects (Han and Zhuang patients only) in the Guangxi Zhuang autonomous region comprised the case group, and the intestinal mucosa tissue of 155 healthy subjects (Han and Zhuang patients only) in the same region represented the control group. Deoxyribonucleic acid was extracted from the intestinal mucosa tissue of each experimental group, and the MYO9B gene-target fragment containing the single nucleotide polymorphism (SNP) site rs962917 was designed. Finally, polymerase chain reaction products were obtained by amplification, analyzed, and compared using the sequencing results.ResultsThe results indicated that the genotype frequency of the MYO9B SNP site rs962917 between Crohn’s disease (CD) and control groups of Zhuang and Han participants differed significantly (P < 0.05). Furthermore, the genotype frequency of MYO9B site rs962917 differed significantly between the Zhuang and Han population groups (P < 0.05).ConclusionSite rs962917 of the MYO9B gene is related to CD susceptibility and incidence among the Guangxi Zhuang population.

Ethnic Disparities and the Psychological Trauma of Maltreated Children: Evidence from Three Multi-ethnic Counties in China

This study aims to discuss the effect of ethnicity on child maltreatment trauma in China and to contribute to international knowledge on the quality of life of children. The data come from a survey of 1763 rural children (Mage = 12.34, 50.0% boys) in three multi-ethnic counties in western China that was conducted from November 2019 to January 2020 with the modified versions of the “Juvenile Victimization Questionnaire” Scale. There are three important findings of this study. First, child maltreatment is significantly related to child depression in China. The depression score and rate of severe depression symptoms (SDS) are 2.09 times and 3.82 times higher, respectively, for maltreated children than children without maltreatment. Second, the effects of maltreatment on child depression differ significantly among the ethnic groups. The negative effect of maltreatment is most influential among the Han population and least influential among the Zhuang population. Third, ethnic disparities are also found in the effects of the influencing factors on child depression. The effect of intergenerational relationships on child depression is significant only in the Han and Tibetan populations, while the negative effect of peer support is found only among Han, Tibetan, and Miao children. Based on the confirmation of ethnic disparities in trauma due to maltreatment, this study suggests that it is necessary to establish a high-quality psychological intervention system in China’s multi-ethnic counties.