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Abstract The purpose of this paper is to study the genetic polymorphisms of related gene loci (CYP2C9*3, VKORC1-1639G > A) based on demographic and clinical factors, and use the maximum a posterior Bayesian method to construct a warfarin individualized dose prediction model in line with the Chinese Han population. Finally, the built model is compared and analyzed with the widely used models at home and abroad. In this study, a total of 5467 INR measurements are collected from 646 eligible subjects in our hospital, and the maximum a posterior Bayesian method is used to construct a warfarin dose prediction that conforms to the Chinese Han population on the basis of the Hamberg model. The model is verified and compared with foreign models. This study finds that body weight and concomitant use of amiodarone have a significant effect on the anticoagulant effect of warfarin. The model can provide an effective basis for individualized and rational dosing of warfarin in Han population more accurately. In the performance of comparison with different warfarin dose prediction models, the new model has the highest prediction accuracy, and the prediction percentage is as high as 72.56%. The dose predicted by the Huang model is the closest to the actual dose of warfarin. The population pharmacokinetics and pharmacodynamics model established in this study can better reflect the distribution characteristics of INR values after warfarin administration in the Han population, and performs better than the models reported in the literature.

Objective To establish age estimation models of northern Chinese Han adults using cranial suture images obtained by CT and multiplanar reformation （MPR）, and to explore the applicability of cranial suture closure rule in age estimation of northern Chinese Han population. Methods The head CT samples of 132 northern Chinese Han adults aged 29-80 years were retrospectively collected. Volume reconstruction （VR） and MPR were performed on the skull, and 160 cranial suture tomography images were generated for each sample. Then the MPR images of cranial sutures were scored according to the closure grading criteria, and the mean closure grades of sagittal suture, coronal sutures （both left and right） and lambdoid sutures （both left and right） were calculated respectively. Finally taking the above grades as independent variables, the linear regression model and four machine learning models for age estimation （gradient boosting regression, support vector regression, decision tree regression and Bayesian ridge regression） were established for northern Chinese Han adults age estimation. The accuracy of each model was evaluated. Results Each cranial suture closure grade was positively correlated with age and the correlation of sagittal suture was the highest. All four machine learning models had higher age estimation accuracy than linear regression model. The support vector regression model had the highest accuracy among the machine learning models with a mean absolute error of 9.542 years. Conclusion The combination of skull CT-MPR and machine learning model can be used for age estimation in northern Chinese Han adults, but it is still necessary to combine with other adult age estimation indicators in forensic practice.

Objective To develop a deep learning model for automated age estimation based on 3D CT reconstructed images of Han population in western China, and evaluate its feasibility and reliability. Methods The retrospective pelvic CT imaging data of 1 200 samples （600 males and 600 females） aged 20.0 to 80.0 years in western China were collected and reconstructed into 3D virtual bone models. The images of the ischial tuberosity feature region were extracted to create sex-specific and left/right site-specific sample libraries. Using the ResNet34 model, 500 samples of different sexes were randomly selected as training and verification set, the remaining samples were used as testing set. Initialization and transfer learning were used to train images that distinguish sex and left/right site. Mean absolute error （MAE） and root mean square error （RMSE） were used as primary indicators to evaluate the model. Results Prediction results varied between sexes, with bilateral models outperformed left/right unilateral ones, and transfer learning models showed superior performance over initial models. In the prediction results of bilateral transfer learning models, the male MAE was 7.74 years and RMSE was 9.73 years, the female MAE was 6.27 years and RMSE was 7.82 years, and the mixed sexes MAE was 6.64 years and RMSE was 8.43 years. Conclusion The skeletal age estimation model, utilizing ischial tuberosity images of Han population in western China and employing the ResNet34 combined with transfer learning, can effectively estimate adult ischium age.

The purpose of this paper is to study the genetic polymorphisms of related gene loci (CYP2C9*3, VKORC1-1639G > A) based on demographic and clinical factors, and use the maximum a posterior Bayesian method to construct a warfarin individualized dose prediction model in line with the Chinese Han population. Finally, the built model is compared and analyzed with the widely used models at home and abroad. In this study, a total of 5467 INR measurements are collected from 646 eligible subjects in our hospital, and the maximum a posterior Bayesian method is used to construct a warfarin dose prediction that conforms to the Chinese Han population on the basis of the Hamberg model. The model is verified and compared with foreign models. This study finds that body weight and concomitant use of amiodarone have a significant effect on the anticoagulant effect of warfarin. The model can provide an effective basis for individualized and rational dosing of warfarin in Han population more accurately. In the performance of comparison with different warfarin dose prediction models, the new model has the highest prediction accuracy, and the prediction percentage is as high as 72.56%. The dose predicted by the Huang model is the closest to the actual dose of warfarin. The population pharmacokinetics and pharmacodynamics model established in this study can better reflect the distribution characteristics of INR values after warfarin administration in the Han population, and performs better than the models reported in the literature. [ABSTRACT FROM AUTHOR]

Objective To establish age estimation models of northern Chinese Han adults using cranial suture images obtained by CT and multiplanar reformation (MPR), and to explore the applicability of cranial suture closure rule in age estimation of northern Chinese Han population. Methods The head CT samples of 132 northern Chinese Han adults aged 29-80 years were retrospectively collected. Volume reconstruction (VR) and MPR were performed on the skull, and 160 cranial suture tomography images were generated for each sample. Then the MPR images of cranial sutures were scored according to the closure grading criteria, and the mean closure grades of sagittal suture, coronal sutures (both left and right) and lambdoid sutures (both left and right) were calculated respectively. Finally taking the above grades as independent variables, the linear regression model and four machine learning models for age estimation (gradient boosting regression, support vector regression, decision tree regression and Bayesian ridge regression) were established for northern Chinese Han adults age estimation. The accuracy of each model was evaluated. Results Each cranial suture closure grade was positively correlated with age and the correlation of sagittal suture was the highest. All four machine learning models had higher age estimation accuracy than linear regression model. The support vector regression model had the highest accuracy among the machine learning models with a mean absolute error of 9.542 years. Conclusion The combination of skull CT-MPR and machine learning model can be used for age estimation in northern Chinese Han adults, but it is still necessary to combine with other adult age estimation indicators in forensic practice. [ABSTRACT FROM AUTHOR]

Objective To develop a deep learning model for automated age estimation based on 3D CT reconstructed images of Han population in western China, and evaluate its feasibility and reliability. Methods The retrospective pelvic CT imaging data of 1 200 samples (600 males and 600 females) aged 20.0 to 80.0 years in western China were collected and reconstructed into 3D virtual bone models. The images of the ischial tuberosity feature region were extracted to create sex-specific and left/right site-specific sample libraries. Using the ResNet34 model, 500 samples of different sexes were randomly selected as training and verification set, the remaining samples were used as testing set. Initialization and transfer learning were used to train images that distinguish sex and left/right site. Mean absolute error (MAE) and root mean square error (RMSE) were used as primary indicators to evaluate the model. Results Prediction results varied between sexes, with bilateral models outperformed left/right unilateral ones, and transfer learning models showed superior performance over initial models. In the prediction results of bilateral transfer learning models, the male MAE was 7.74 years and RMSE was 9.73 years, the female MAE was 6.27 years and RMSE was 7.82 years, and the mixed sexes MAE was 6.64 years and RMSE was 8.43 years. Conclusion The skeletal age estimation model, utilizing ischial tuberosity images of Han population in western China and employing the ResNet34 combined with transfer learning, can effectively estimate adult ischium age. [ABSTRACT FROM AUTHOR]

Peripheral blood mononuclear cells (PBMCs) from a 28-year-old male patient with unipolar depression were reprogrammed with reprogramming factors by electroporation. The pluripotency of transgene-free induced pluripotent stem cells (iPSCs) was verified by immunofluorescence staining for pluripotency markers, and these iPSCs were able to differentiate into the 3 germ layers in vitro. These iPSCs also showed normal karyotypes. Thus, we believe that these iPSCs could be valuable models for exploring the underlying biological mechanism of depression and the safety of antidepressants through the use of iPSCs differentiated into different kinds of neurons or brain organoids.

Background Highly polymorphic autosomal STR loci are useful for understanding population structure better and for forensic application, however the non-CODIS STR loci in the Han population of Shandong, located in Northern China, are not well-characterised. Aim To investigate population genetic polymorphism and forensic efficiency of 21 autosomal STR loci from the Shandong Han population in Northern China and reveal the genetic relationships with other populations both at home and abroad. Subjects and methods In this study, population genetic data of 21 autosomal STR loci included in the Goldeneye DNA ID 22NC Kit that includes four CODIS loci and 17 non-CODIS loci were determined for 523 unrelated Han individuals in Shandong. Results Significant deviations from Hardy–Weinberg equilibrium were not observed. A total of 233 alleles were detected with allele frequencies ranging from 0.0010 to 0.3728. The combined power of discrimination was 0.99999999999999999999999990011134, and the combined power of exclusion was 0.99999999788131. Furthermore, in an analysis of population differentiation Nei’s standard genetic distance and multidimensional scaling analysis, which were conducted based on the overlapping 15 STR loci, revealed that the Shandong Han population was most closely related to populations in close geographic proximity. Conclusions This study demonstrated that the 21 autosomal STR loci included in the GoldeneyeTM DNA ID 22NC system are highly polymorphic and suitable for forensic identification and paternity testing in the Shandong Han population. Additionally, the present results enrich the population genetic database.

Background X-chromosomal short tandem repeats (X-STRs) are a useful supplementary approach to analysing autosomal markers in forensics and kinship studies; such markers are not well-characterised in many populations. Aim To investigate population genetic polymorphism and forensic characterisation of 16 X-STRs in the Jining Han population, and analyse genetic relationships with other Chinese populations. Subjects and methods Allele frequencies for 16 X-STR loci were obtained from a sample set of 527 unrelated individuals from the Jining Han population. Population genetic analyses of Jining Han and another 10 reference populations were conducted using phylogenetic tree, principal component analysis and multidimensional scaling. Results We detected 149 alleles, with frequencies ranging from 0.0013 to 0.8242. The combined powers of discrimination in males and females were 0.999999997194774 and 0.999999999999995, respectively. The combined mean exclusion change (MEC)Krüger, MECKishida, MECDesmarais, and MECDesmarais Duos values were 0.999974632649096, 0.999999976997582, 0.999999977013201, and 0.999993755768423, respectively. We detected relatively high genetic homogeneity in populations with similar ethnic or geographic origins, and a close relationship between the Jining Han and Beijing Han populations. Conclusions The present findings indicate that the 16 X-STR loci examined are highly polymorphic in the Han population of Jining, providing useful information for forensic science and population genetics studies.

Abstract Background Few animal experiments and volunteer-based intervention studies have showed a controversial effect of spicy foods on abdominal obesity. We aimed to examine the association between spicy food frequency, spicy flavor, and abdominal obesity among Chinese Han population in the Sichuan Basin which area eating spicy foods relatively often. Methods A cross-sectional analysis was conducted using the Sichuan Basin baseline data from the China Multi-Ethnic Cohort (CMEC) study, including data from electronic questionnaires, anthropometric measurements and blood sample collection. A total of 40,877 adults (22,503 females) aged 30–79 years were included in the final analysis. Multivariable logistic regression yielded adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for abdominal obesity associated with the strength of spicy flavor and frequency of spicy food intake. Results The prevalence of daily spicy food eating was 47.3% in males and 52.7% in females, the percentages of abdominal obesity were 52.3%, 48.8%, 51.6% and 55.5% in the spicy food intake subgroups of never, 1–2 days/week, 3–5 days/week and 6–7 days/week, respectively. Compared with males who never consumed spicy food, the adjusted ORs (95% CIs) in the 1–2 days/week, 3–5 days/week and 6–7 days/week subgroups were 1.21 (1.09, 1.34), 1.35 (1.21, 1.51), and 1.35 (1.25, 1.47), respectively (P trend

Background Short tandem repeats (STRs) are consecutive repetition of a repeat motif and widely used in forensic medicine and human genetics because of their high polymorphism. Subjects and methods In the current study, 23 autosomal STR loci were genotyped from 1263 unrelated healthy individuals living in Panjin City, Liaoning Province, Northeastern China using the VeriFilerTM Express PCR Amplification Kit. The population comparison was performed between the Panjin Han population and the other relevant groups to further explore the structure of Panjin Han and its relationship with the other groups. Results The results found 316 alleles across the 23 STRs and the corresponding allelic frequencies ranged from 0.5198 to 0.0004. Except for D3S1358, TPOX, TH01, and D3S1358, all STR loci were highly polymorphic (PIC > 0.7), with the Penta E locus having the highest degree of polymorphism (0.9147). For population comparison, the exact test of population differentiation found that no significant difference was observed between the Panjin Han and the other Han populations, except for Guangdong Han and Jiangxi Han. Conclusion The Panjin Han population showed significant differences with the other ethnic groups in China (Bouyei, Dong, Hui, Miao, Tibetan, and Uygur) and the foreign ethnic groups.

Highly polymorphic autosomal STR loci are useful for understanding population structure better and for forensic application, however the non-CODIS STR loci in the Han population of Shandong, located in Northern China, are not well-characterised. To investigate population genetic polymorphism and forensic efficiency of 21 autosomal STR loci from the Shandong Han population in Northern China and reveal the genetic relationships with other populations both at home and abroad. In this study, population genetic data of 21 autosomal STR loci included in the Goldeneye DNA ID 22NC Kit that includes four CODIS loci and 17 non-CODIS loci were determined for 523 unrelated Han individuals in Shandong. Significant deviations from Hardy–Weinberg equilibrium were not observed. A total of 233 alleles were detected with allele frequencies ranging from 0.0010 to 0.3728. The combined power of discrimination was 0.99999999999999999999999990011134, and the combined power of exclusion was 0.99999999788131. Furthermore, in an analysis of population differentiation Nei's standard genetic distance and multidimensional scaling analysis, which were conducted based on the overlapping 15 STR loci, revealed that the Shandong Han population was most closely related to populations in close geographic proximity. This study demonstrated that the 21 autosomal STR loci included in the GoldeneyeTM DNA ID 22NC system are highly polymorphic and suitable for forensic identification and paternity testing in the Shandong Han population. Additionally, the present results enrich the population genetic database. [ABSTRACT FROM AUTHOR]

X-chromosomal short tandem repeats (X-STRs) are a useful supplementary approach to analysing autosomal markers in forensics and kinship studies; such markers are not well-characterised in many populations. To investigate population genetic polymorphism and forensic characterisation of 16 X-STRs in the Jining Han population, and analyse genetic relationships with other Chinese populations. Allele frequencies for 16 X-STR loci were obtained from a sample set of 527 unrelated individuals from the Jining Han population. Population genetic analyses of Jining Han and another 10 reference populations were conducted using phylogenetic tree, principal component analysis and multidimensional scaling. We detected 149 alleles, with frequencies ranging from 0.0013 to 0.8242. The combined powers of discrimination in males and females were 0.999999997194774 and 0.999999999999995, respectively. The combined mean exclusion change (MEC)Krüger, MECKishida, MECDesmarais, and MECDesmarais Duos values were 0.999974632649096, 0.999999976997582, 0.999999977013201, and 0.999993755768423, respectively. We detected relatively high genetic homogeneity in populations with similar ethnic or geographic origins, and a close relationship between the Jining Han and Beijing Han populations. The present findings indicate that the 16 X-STR loci examined are highly polymorphic in the Han population of Jining, providing useful information for forensic science and population genetics studies. [ABSTRACT FROM AUTHOR]

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Background: CYP2C19 gene polymorphisms have been described to have an important influence on the drug metabolism observed in human populations. A series of PCR-based molecule detection methods are applied to identify CYP2C19 genotype. The aim of the study is to validate the novel CYP2C19 genotyping approach with other methods and reveal the allele frequency distribution of CYP2C19 in Chinese Han population. Methods: We applied a novel genotyping approach for CYP2C19 gene which was combining direct PCR and capillary electrophoresis (CE) technique. A series of fluorescent labeled primers were designed to amplify the particular DNA fragments which indicated the wild type of CYP2C19 genotype. The variants consist of CYP2C19*2, CYP2C19*3 and CYP2C19*17 alleles. Both the novel PCR-based CE method and real-time quantitative PCR (RT-qPCR) method were used to identify the CYP2C19 genotypes in 324 whole blood samples originated from Chinese Han population. According to the different criterions for judgement of two methods, we can obtain the CYP2C19 alleles and genotypes of the same participants. Kappa statistics was used to evaluate the consistency of the two results and the frequencies of CYP2C19 alleles. The genotypes in Chinese Han population were calculated using EXCEL. Furthermore, to ensure the accuracy and reliability of the CYP2C19 genotypes obtained by using the novel approach, Sanger sequencing was conducted to validate the CYP2C19 genotypes *1/*17 and *2/*3. Results: Among the 324 specimens, 111 were *1/*1, 141 were *1/*2, 10 were *1/*3, 4 were *1/*17, 46 were *2/*2, 10 were *2*/3, 1 was *2/*17, and 1 was *3/*17. Allele distributions for CYP2C19 were *1, *2, *3, and *17 at 58.18%, 37.65%, 3.24%, and 0.93%, respectively. Both PCR-based CE method and RT-qPCR methods had good consistency in the genotypes of CYP2C19 polymorphism (Kappa value = 1.000, p < 0.05). The DNA sequences of CYP2C19 genotype *1/*17 were composed of c.681 G/G, c.636 G/G, and c.-806 C>T. In the same way, the DNA sequences of CYP2C19 genotype *2/*3 were composed of c.681 G>A, c.636 G>A, and c.-806 C/C. Conclusions: The variants including the CYP2C19*2 allele were the most common mutations in Chinese Han unrelated individuals. Both PCR-based CE method and RT-qPCR method had good consistency in the genotypes of CYP2C19 polymorphism. Nevertheless, because of more convenience and higher throughput, the novel PCR-based capillary electrophoresis approach showed to be more suitable for clinical gene screening. [ABSTRACT FROM AUTHOR]

Background: Few animal experiments and volunteer-based intervention studies have showed a controversial effect of spicy foods on abdominal obesity. We aimed to examine the association between spicy food frequency, spicy flavor, and abdominal obesity among Chinese Han population in the Sichuan Basin which area eating spicy foods relatively often.Methods: A cross-sectional analysis was conducted using the Sichuan Basin baseline data from the China Multi-Ethnic Cohort (CMEC) study, including data from electronic questionnaires, anthropometric measurements and blood sample collection. A total of 40,877 adults (22,503 females) aged 30-79 years were included in the final analysis. Multivariable logistic regression yielded adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for abdominal obesity associated with the strength of spicy flavor and frequency of spicy food intake.Results: The prevalence of daily spicy food eating was 47.3% in males and 52.7% in females, the percentages of abdominal obesity were 52.3%, 48.8%, 51.6% and 55.5% in the spicy food intake subgroups of never, 1-2 days/week, 3-5 days/week and 6-7 days/week, respectively. Compared with males who never consumed spicy food, the adjusted ORs (95% CIs) in the 1-2 days/week, 3-5 days/week and 6-7 days/week subgroups were 1.21 (1.09, 1.34), 1.35 (1.21, 1.51), and 1.35 (1.25, 1.47), respectively (Ptrend < 0.001). The corresponding odds ratios for females were 0.95 (0.87, 1.05), 1.14 (1.03, 1.26), and 1.25 (1.16, 1.35), respectively (Ptrend < 0.001). Similarly, compared with no spicy flavor, the adjusted ORs (95% CIs) of mild, middle, and strong spicy strength for abdominal obesity in males were 1.27 (1.17, 1.38), 1.51 (1.37, 1.67), and 1.36 (1.11, 1.67) respectively (Ptrend < 0.001). The corresponding odds ratios for females were 1.14 (1.06, 1.23), 1.27 (1.15, 1.40), and 1.32 (1.06, 1.65), respectively (Ptrend < 0.001).Conclusions: The data indicated that spicy food consumption was a risk factor for abdominal obesity among Chinese adult population in the Sichuan Basin. The results need to be approved by large cohort studies. [ABSTRACT FROM AUTHOR]

Short tandem repeats (STRs) are consecutive repetition of a repeat motif and widely used in forensic medicine and human genetics because of their high polymorphism. In the current study, 23 autosomal STR loci were genotyped from 1263 unrelated healthy individuals living in Panjin City, Liaoning Province, Northeastern China using the VeriFilerTM Express PCR Amplification Kit. The population comparison was performed between the Panjin Han population and the other relevant groups to further explore the structure of Panjin Han and its relationship with the other groups. The results found 316 alleles across the 23 STRs and the corresponding allelic frequencies ranged from 0.5198 to 0.0004. Except for D3S1358, TPOX, TH01, and D3S1358, all STR loci were highly polymorphic (PIC > 0.7), with the Penta E locus having the highest degree of polymorphism (0.9147). For population comparison, the exact test of population differentiation found that no significant difference was observed between the Panjin Han and the other Han populations, except for Guangdong Han and Jiangxi Han. The Panjin Han population showed significant differences with the other ethnic groups in China (Bouyei, Dong, Hui, Miao, Tibetan, and Uygur) and the foreign ethnic groups. [ABSTRACT FROM AUTHOR]

Han/non-Han interactions were engrained among the border regions of ancient Imperial China. Yet, little is known about either the genetic origins or the lifeways of these border peoples. Our study applies tools from ancient deoxyribonucleic acid (DNA) and stable isotope analysis to the study of a Han dynasty population at the Shichengzi site in modern-day Xinjiang. Isotopic analysis (δ13C and δ15N) of human (n = 8), animal (n = 26), and crop remains (n = 23) from Shichengzi indicated that dietary patterns among site inhabitants could be split among agro-pastoral and agricultural groups based on differences in the collagen 15N ratios. DNA analysis divided the four Shichengzi samples into two groups, with one group primarily harboring the ancient Northeast Asian (ANA) related ancestry, while the other showed a dominant Late Neolithic Yellow River (YR_LN) related ancestry. Both ancient DNA and stable isotope evidence point to the Northeast Asian origins of pastoralists and East Asian origins of Han agriculturalists, who, nonetheless, shared a single burial space at Shichengzi. This study thus provides clear evidence for the multiple origins and identities of populations across the porous border represented by the Han Empire and surrounding regions and proposes a new model for the interpretation of border culture in early Imperial China.

Background and aims:Spinal serum 25-hydroxyvitamin D [25[OH]D] status plays an important role in mediating innate immune responses by acting as a cofactor for induction of antimycobacterial activity and is thus involved in the development of Tuberculosis (TB). Results reported regarding the association of vitamin D with TB remained controversial. We aimed to identify any common association between 25[OH]D status and TB in the Chinese Han population.Methods280 subjects (70 TB patients and 210 matched controls) were recruited. TB cases were diagnosed based on the presence of acid-fast bacilli on smears from sputum and MTB isolation. Healthy controls were randomly selected from four local community-based populations. 25[OH]D was detected by electrochemiluminescence immunoassay (ECLIA) on Roche Elecsys before the initial treatment. Multivariable logistic regression analysis was used to examine the association of Vitamin D with TB.ResultsThere was no significant difference in the serum vitamin D level between total cases and controls, but we found a strong tendency toward a higher serum vitamin D level in male population (P < 0.05) with TB but not in females. High serum vitamin D increased the risk of TB in the Chinese Han population (OR = 1.035, 95%CI: 1.001–1.070, P < 0.05). The serum vitamin D level was significantly decreased with age increasing in cases and controls (all P < 0.001).ConclusionsHigh serum vitamin D may be an independent risk factor for TB in the Chinese Han population.

BACKGROUND: Although great progress has been made in the etiology, development and treatment of knee osteoarthritis in recent years, its specific etiology and pathogenesis are still unclear. Among the pathogenic factors of knee osteoarthritis, genetic factors account for about 40%-60%, which are closely related to the incidence of knee osteoarthritis. OBJECTIVE: To investigate the relationship between matrix metalloproteinase-3 gene polymorphism and onset of knee osteoarthritis in Han population in north China. METHODS: We recruited 100 male patients with knee osteoarthritis and 197 healthy men admitted at the Affiliated Hospital of Inner Mongolia Medical University between October 2018 and October 2020. All the subjects were from the Han group. We used commercial kits to extract the blood genomic DNAs. Eight single nucleotide polymorphisms of matrix metalloproteinase-3 gene, including rs639752, rs650108, rs520540, rs646910, rs602128, rs679620, rs678815, and rs522616, were genotyped by using the Sequenom MassARRAY RS1000 platform. Unconditional Logistic regression analysis was used to calculate the correlation between single nucleotide polymorphisms and knee osteoarthritis under five genetic models (codominant, dominant, recessive, overdominant and additive models). RESULTS AND CONCLUSION: (1)In the Pearson chi-square test, all loci had no correlation with the risk of knee osteoarthritis under the allelic model. (2) Through the association analysis, we identified that four single nucleotide polymorphisms (rs639752, rs520540, rs602128, and rs679620) in the matrix metalloproteinase-3 gene in the dominant and over-dominant models were associated with the increased risk of knee osteoarthritis. (3)Our study preliminarily revealed that four single nucleotide polymorphisms (rs639752, rs520540, rs602128, and rs679620) in the matrix metalloproteinase-3 gene can increase the incidence of knee osteoarthritis in men of Han ethnics in north China. However, the results we identified here need to be confirmed in further large-scale studies. [ABSTRACT FROM AUTHOR]

Abstract Background Our study aimed to explore the prevalence and risk factors of refractive error (RE) in Han and Tibetan population aged 50–79 years in Xining and surrounding areas in Qinghai Province on Qinghai-Tibet Plateau. Methods As part of the China National Health Survey, our cross-sectional study compared the age-adjusted prevalence of RE in Han and Tibetan older adults aged 50–79 years in Xining and surrounding areas. A multivariate logistic regression model was used to identify risk factors for myopia and hyperopia. Results Among 769 Han participants and 476 Tibetan participants, the age-adjusted prevalence of myopia (spherical equivalent (SE) + 0.5D), high myopia (SE = 0.5D) is 28.56, 22.82, 2.80, and 69.38%. Han participants have higher age-adjusted prevalence of myopia (32.93% vs 21.64%, p

Yuesun Qi,1,2,* Cheng Li,1,3,* Yimin Du,2 Jichao Lin,1 Nan Li,2 Youcheng Yu1 1Department of Stomatology, Zhongshan Hospital, Fudan University, Shanghai, 200032, People’s Republic of China; 2Department of Stomatology, Jinshan Hospital, Fudan University, Shanghai, 200540, People’s Republic of China; 3Department of Stomatology, Jing’an District Institute of Dental Diseases, Shanghai, 200040, People’s Republic of China*These authors contributed equally to this workCorrespondence: Youcheng YuDepartment of Stomatology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Xuhui District, Shanghai, 200032, People’s Republic of ChinaTel/Fax +86 21 64041990Email yu.youcheng@zs-hospital.sh.cnPurpose: This study aimed to investigate the role of chemokine receptor 2 (CXCR2) gene polymorphisms in peri-implantitis susceptibility in a Chinese Han population.Patients and Methods: A total of 260 individuals were included in this study, including 127 peri-implantitis patients and 133 healthy implants. CXCR2 gene rs2230054 and rs1126580 polymorphisms in different groups were analyzed by the Chi-square test. The odds ratios (ORs) and 95% confidence intervals (95% CIs) were employed to evaluate the association between CXCR2 polymorphism and peri-implantitis susceptibility.Results: The CT genotype of rs2230054 and the AG genotype and G allele of rs1126580 significantly increased in peri-implantitis patients compared with healthy implants (P < 0.05). The CT genotype of rs2230054 (OR = 1.825, 95% CI = 1.028– 3.239) and the AG genotype of rs1126580 (OR = 2.223, 95% CI 1.272– 3.885) carriers had a high risk to infect with peri-implantitis. Additionally, these CXCR2 gene polymorphisms have been revealed to be associated with the periodontal status of peri-implantitis patients.Conclusion: The CXCR2 gene rs2230054 and rs1126580 polymorphisms were associated with the peri-implantitis susceptibility in the Chinese Han population. The CT genotype of rs2230054 and the AG genotype and G allele of rs1126580 serve as risk factors for the occurrence of peri-implantitis.Keywords: chemokine receptor 2, CXCR2, polymorphism, peri-implantitis, Han population

Peripheral blood mononuclear cells (PBMCs) from a 28-year-old male patient with unipolar depression were reprogrammed with reprogramming factors by electroporation. The pluripotency of transgene-free induced pluripotent stem cells (iPSCs) was verified by immunofluorescence staining for pluripotency markers, and these iPSCs were able to differentiate into the 3 germ layers in vitro. These iPSCs also showed normal karyotypes. Thus, we believe that these iPSCs could be valuable models for exploring the underlying biological mechanism of depression and the safety of antidepressants through the use of iPSCs differentiated into different kinds of neurons or brain organoids. [ABSTRACT FROM AUTHOR]

Objective To observe the integrity and morphology of Willis ring in the normal Han population in Tibetan plateau area based on magnetic resonance angiography (MRA)and to investigate the effect of plateau hypoxic environment on Willis rings in normal Han population. Methods A total of 201 normal Han people living in the Tibet plateau who received MRI examination underwent routine MRI scanning + 3D-TOF MRA examination. The Willis ring integrity and Willis ring morphology (including anterior circulation morphology and posterior circulation morphology)were observed on MRA images, and the Willis ring integrity rate was calculated. The effects of different plateau residence time, gender, drinking history and smoking history on the Willis circle integrity rate were observed. Results Forty-two cases had complete Willis ring in 201 normal Han population in Tibet plateau area, and the complete rate of Willis ring was 20. 9 %. No significant differences were found in the integrity rates of the Willis ring between participants who lived at high altitude for more than 10 years and participants who lived at high altitude for less than 10 years, between male participants and female participants, between participants with drinking history and participants without drinking history, and between participants with smoking history and participants without smoking history (all P>0. 05). Five types of anterior circulation of Willis ring were found, including 162 cases of normal anterior circle, 4 cases of two anterior communicating arteries (AcomA), 1 case of A1 hypoplasia of the anterior cerebral artery (ACA), 12 cases of A1 of the ACA absent and 22 cases of AcomA absent. Sixteen types of posterior circulation of Willis ring were found, including 37 cases of adult-type posterior circle, 2 cases of transitional type, 7 cases of unilateral fetal-type posterior circle (FTP), 2 cases of bilateral FTP, 36 cases of absence of the bilateral posterior communicating arteries (PcomA), 22 cases of bilateral PcomA hypoplasia, 49 cases of unilateral PcomA deletion, 12 cases of unilateral PcomA hypoplasia, 17 cases of full FTP, 3 cases of hypoplasia of unilateral PcomA and P1and contralateral PcomA deletion, 3 cases of hypoplasia of P1 and contralateral PcomA deletion, 1 case of unilateral PcomA and contralateral P1 abent, 1 case of bilateral P1 deletion, 5 cases of unilateral P1 deletion and contralateral hypoplasia, 3 cases of unilateral PcomA hypoplasia and contralateral P1 deletion, and 1 case of unilateral PcomA and contralateral P1 hypoplasia. Conclusions The integrity rate of the Willis ring was low in 201 normal Han people in Tibet plateau area. Different plateau residence time, gender, drinking history, and smoking history had no influence on the integrity rate of the Willis ring. The morphology of the Willis ring in 201 normal Han population in the Tibetan plateau region had extensive variation with the mainly variation in the posterior circulation. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to analyse the effects of demographic factors, clinical factors, and genetic polymorphisms of related gene loci on warfarin bleeding-related complications in the Han population. Methods: Retrospective medical record review. The study cases were patients treated at the Fujian Medical University Union Hospital from March 2016 to February 2020, and all received regular warfarin anticoagulation treatment for at least 3 months, and were provided the initial standard dose and stable dose of warfarin. Results: Data were collected from 451 qualifying patients (47% male, 53% female). The average age of patients was 53.8 ± 12.2 years, and the average body surface area was 1.6 ± 0.18 m2. There were nine major bleeding events and 141 minor bleeding events. In the univariate logistic analysis, the p-value of the four factors body weight, body surface area (BSA), amiodarone, and rs429358 was < 0.10. However, the final p-values for amiodarone and rs429358 were < 0.05 in the multifactorial logistic analysis. Conclusions: The ApoE (rs429358) gene polymorphism influences bleeding complications in Chinese Han patients treated with warfarin. The sample size of this study was relatively small; hence an international study with a larger sample size is needed in the future. [ABSTRACT FROM AUTHOR]

Objective To investigate the allele distribution, population genetics parameters and genetic analysis of neighboring populations of 19 autosomal STR loci in Sichuan Han population, and to evaluate their forensic application value. Methods The Goldeneye?? DNA ID system 20A was used to perform multiplex PCR amplification and allelic gene typing of 19 STR loci in 1 201 unrelated Han individuals from Sichuan Province. Allele frequencies and population genetics parameters were calculated. The Nei’s genetic distances between Sichuan Han population and 12 previously reported populations were analyzed. Multidimensional scaling and principal component analysis were carried out and phylogenetic trees were also constructed. Results The heterozygosity of 19 STR loci ranged from 0.617 0 to 0.915 1, their discrimination power ranged from 0.777 4 to 0.986 5, matching probability ranged from 0.013 5 to 0.222 6, polymorphism information content ranged from 0.546 4 to 0.910 5, probability of exclusion ranged from 0.311 8 to 0.826 3 （triplet） and from 0.197 9 to 0.712 1 （biplet）, and no significant deviations from Hardy-Weinberg equilibrium were observed. Based on the results of multidimensional scaling, principal component analysis and phylogenetic trees of the genetic distances between Sichuan Han population and the other 12 populations, Sichuan Han population was closest to Hubei Han population and was farthest to Xinjiang Uygur population. Conclusion The 19 autosomal STR loci showed a high polymorphism and discriminating ability in Sichuan Han population, which can provide a data foundation for personal identification, paternity test and population genetics study.

Objectives: To develop a deep learning model for automated age estimation based on 3D CT reconstructed images of Han population in western China, and evaluate its feasibility and reliability., Methods: The retrospective pelvic CT imaging data of 1 200 samples (600 males and 600 females) aged 20.0 to 80.0 years in western China were collected and reconstructed into 3D virtual bone models. The images of the ischial tuberosity feature region were extracted to create sex-specific and left/right site-specific sample libraries. Using the ResNet34 model, 500 samples of different sexes were randomly selected as training and verification set, the remaining samples were used as testing set. Initialization and transfer learning were used to train images that distinguish sex and left/right site. Mean absolute error (MAE) and root mean square error (RMSE) were used as primary indicators to evaluate the model., Results: Prediction results varied between sexes, with bilateral models outperformed left/right unilateral ones, and transfer learning models showed superior performance over initial models. In the prediction results of bilateral transfer learning models, the male MAE was 7.74 years and RMSE was 9.73 years, the female MAE was 6.27 years and RMSE was 7.82 years, and the mixed sexes MAE was 6.64 years and RMSE was 8.43 years., Conclusions: The skeletal age estimation model, utilizing ischial tuberosity images of Han population in western China and employing the ResNet34 combined with transfer learning, can effectively estimate adult ischium age.

Objectives: To establish age estimation models of northern Chinese Han adults using cranial suture images obtained by CT and multiplanar reformation (MPR), and to explore the applicability of cranial suture closure rule in age estimation of northern Chinese Han population., Methods: The head CT samples of 132 northern Chinese Han adults aged 29-80 years were retrospectively collected. Volume reconstruction (VR) and MPR were performed on the skull, and 160 cranial suture tomography images were generated for each sample. Then the MPR images of cranial sutures were scored according to the closure grading criteria, and the mean closure grades of sagittal suture, coronal sutures (both left and right) and lambdoid sutures (both left and right) were calculated respectively. Finally taking the above grades as independent variables, the linear regression model and four machine learning models for age estimation (gradient boosting regression, support vector regression, decision tree regression and Bayesian ridge regression) were established for northern Chinese Han adults age estimation. The accuracy of each model was evaluated., Results: Each cranial suture closure grade was positively correlated with age and the correlation of sagittal suture was the highest. All four machine learning models had higher age estimation accuracy than linear regression model. The support vector regression model had the highest accuracy among the machine learning models with a mean absolute error of 9.542 years., Conclusions: The combination of skull CT-MPR and machine learning model can be used for age estimation in northern Chinese Han adults, but it is still necessary to combine with other adult age estimation indicators in forensic practice.

New Findings: What is the central question of this study?Vascular endothelial growth factor A (VEGFA) is an important growth factor involved in changes in the bronchial microvascular and airway inflammation in chronic obstructive pulmonary disease (COPD) progression. What is the association of single nucleotide polymorphisms (SNPs) in VEGFA with the risk of COPD in the Chinese Han and Mongolian populations?What is the main finding and its importance?The effect of five SNPs in the VEGFA gene was analysed and compared between the Chinese Han and Mongolian populations. A contribution of risk alleles rs833068, rs833070 and rs3024997 to COPD was detected in the Chinese Mongolian population only. The study provided data from different populations to validate the role of VEGFA polymorphisms in COPD and provided reliable SNPs to predict the risk of COPD. We attempted to define the associations between single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor A (VEGFA) gene and chronic obstructive pulmonary disease (COPD) in Chinese Han and Mongolian cohorts. Five SNPs were genotyped in cohorts of 684 COPD patients (350 Mongolian and 334 Han) and 784 healthy controls (350 Mongolian and 434 Han) using SNPscan multiplex PCR. SNP frequencies, genetic models and haplotypes were analysed using the chi‐square test. The associations of SNPs with COPD and linkage disequilibrium were analysed using logistic regression and HaploView, respectively. We found that only rs833068G>A, rs833070T>C and rs3024997G>A were significantly associated with the risk of COPD in the Mongolian population (rs833068: P < 0.001, rs833070: P < 0.001, rs3024997: P = 0.002). In the analysis of genotype distributions, the A/A and G/A genotypes in rs833068 (A/A: odds ratio (OR) = 0.313, P < 0.001; G/A: OR = 0.724, P < 0.001) and rs3024997 (A/A: OR = 0.513, P = 0.008; G/A: OR = 0.671, P = 0.008) and the C/C and T/C genotypes in rs833070 (C/C: OR = 0.435, P = 0.007; T/C: OR = 0.593, P = 0.007) were associated with protection against COPD in the Mongolian population. The haplotype frequencies of GCCAT and GTCGC were significantly different between the patients and controls (GCCAT: P = 0.001; GTCGC: P < 0.001) in the Mongolian population. Our findings indicate that five SNPs in the VEGFA gene play divergent roles in the Han and Mongolian populations. rs833068A, rs833070C and rs3024997A were observed to be associated with the risk of COPD in the Mongolian population. [ABSTRACT FROM AUTHOR]

Background: Our study aimed to explore the prevalence and risk factors of refractive error (RE) in Han and Tibetan population aged 50-79 years in Xining and surrounding areas in Qinghai Province on Qinghai-Tibet Plateau.Methods: As part of the China National Health Survey, our cross-sectional study compared the age-adjusted prevalence of RE in Han and Tibetan older adults aged 50-79 years in Xining and surrounding areas. A multivariate logistic regression model was used to identify risk factors for myopia and hyperopia.Results: Among 769 Han participants and 476 Tibetan participants, the age-adjusted prevalence of myopia (spherical equivalent (SE) < - 0.5D), hyperopia (SE > + 0.5D), high myopia (SE < -6.0D) and astigmatism (cylindrical equivalent > = 0.5D) is 28.56, 22.82, 2.80, and 69.38%. Han participants have higher age-adjusted prevalence of myopia (32.93% vs 21.64%, p < 0.001), high myopia (3.93% vs 1.02%, p = 0.001) and astigmatism (72.14% vs 64.94%, p = 0.021) compared to Tibetan participants. Being Tibetan is the protective factor of myopia compared to being Han (OR 0.58, 95%CI 0.42-0.79, p < 0.001). Older age (p = 0.032), longer time length in rural area (p = 0.048), undergraduate/graduate education level (p = 0.031), lighter active level (p = 0.007) and lower BMI (p = 0.015) are risk factors for myopia. Older age (all p < 0.001) and pterygium status of the same eye (p = 0.013) also increase the hyperopia risk.Conclusions: Our study found an overall prevalence of myopia of 28.56% in Xining and surrounding areas in adults older than 50 years. Han population has higher myopia risk than Tibetan population. More medical and social resources should be allocated to improve the vision and life quality of older adults. [ABSTRACT FROM AUTHOR]

• Uygur controls had much higher choroidal thickness than Han controls. • Both Han and Uygur PDR patients had significant lower CT and decreased vessel densities than controls, but the Uygur PDR patients had more severe choroidal damage than Han PDR patients. To compare the vascular structures of the retina and choroid in Chinese Han and Uygur populations with proliferative diabetic retinopathy (PDR) using swept-source OCTA (SS-OCTA). Fifty-three eyes of 53 healthy volunteers (25 from Hans and 28 from Uygurs) and 40 eyes of 40 PDR patients (20 from Hans and 20 from Uygurs) were included. Retinal and choroidal parameters, including thickness, vessel flow density (VFD), foveal avascular zone (FAZ) area, choroidal vascularity volume and index (CVV and CVI) were evaluated. Compared with the respective controls, superficial capillary plexus (SCP)-VFD and deep capillary plexus (DCP)-VFD, the areas of FAZ in SCP and DCP were significantly decreased in both Han and Uygur PDR patients. choroidal parameters analysis found that Uygur controls had substantially higher choroidal thickness (CT) than Han controls (p = 0.020) and PDR eyes showed significantly decreased CT. Both races with PDR exhibited significantly reduced choriocapillaris layer-VFD, large and medium choroidal vessel (LMCV) layer-VFD, CVV and CVI, however, Uygur PDR patients had significant lower LMCV layer-VFD, CVV and CVI compared to Han PDR patients. Diabetes duration was the most significant factor affecting CVV and CVI. Both Han and Uygur PDR patients had significantly lower CT and decreased vessel densities compared to controls, but the Uygur PDR patients had more severe choroidal damage than Han PDR patients, which is most likely related to worse visual prognosis. These findings indicate that more frequent screenings and prompt therapy are urgent for Uygur PDR patients. [ABSTRACT FROM AUTHOR]

Background: Short tandem repeats (STRs) are genetic markers that are more informative than single nucleotide polymorphisms and they are widely used in forensic DNA analysis. Aim: To carry out the genetic analysis of 20 autosomal STR loci in Han individuals of Putian City, Southeast China, to expand the available population information for human genetic databases and forensic analysis. Subjects and methods: Saliva swabs from 1417 unrelated Chinese Han individuals from Putian City of Southeast China were collected and then genotyped using the SureID® 21G Human STR Identification Kit. Moreover, phylogenetic analysis based on the Nei’s standard genetic distance was performed between the Han population and other relevant populations based on the shared autosomal STR genotyping. Results: We found 272 alleles among 1417 unrelated individuals and the corresponding allelic frequencies ranged from 0.5409 to 0.0004. The combined power of exclusion (CPE) was 0.999999995514, and the combined power of discrimination (CPD) was 0.9999999999999999999999994061. Population comparison revealed that the Putian Han population makes a cluster with other Han populations from China while showing significant differences when compared with other worldwide populations. Conclusions: Our results found that the SureID® 21G Human STR Identification Kit panel was appropriate for forensic identity testing and paternity testing. Putian Han population had a closer genetic relationship with Han populations from other regions in China, while other minorities like Uighurs and Kazakhs from China showed significant differences.

Single nucleotide polymorphisms (SNPs) in the endoplasmic reticulum aminopeptidase (ERAP1 and ERAP2) genes are associated with the pathogenesis of bacterial and viral infections. To search for the variations in the ERAP1 and ERAP2 genes associated with tuberculosis (TB), 449 TB cases and 435 healthy individuals of the Han population in the Yunnan province of China were included in the present study. Eleven SNPs of ERAPs were genotyped using the SNaPshot SNP assay. Allelic, genotypic, and haplotypic association analyses were performed between the TB and control groups. Furthermore, stratification analyses among pulmonary TB (PTB), extrapulmonary TB (EPTB), and healthy controls; and initial treatment TB (ITTB), retreatment TB (RTB), and healthy controls were also performed. The TT genotype of rs26618 in ERAP1 exhibited a protective factor for TB, compared with the role of the CC/CT genotype (P = 0.003; OR = 1.490, 95% CI: 1.140–1.940). In ERAP2, the frequency of the G allele of rs2549782 was higher in the case group than in the control group (0.491 vs. 0.417, P = 0.002, OR = 1.350, 95% CI: 1.118–1.631), and the TT genotype exhibited a protective factor for TB, compared with the role of the GG/GT genotype (P = 0.001; OR = 1.650, 95% CI: 1.230–2.220). The frequency of the C allele of rs1056893 was higher in the case group than in the control group (0.468 vs. 0.394, P = 0.002, OR = 1.350, 95% CI: 1.118–1.631), and the genotype exhibited a difference in the log-additive model (P = 0.002; OR = 1.350, 95% CI: 1.120–1.630). The frequencies of the haplotype rs27037-rs27044-s30187-rs26618-rs26653-rs3734016-GCCCGC in ERAP1 (0.290 vs. 0.240, P-adj = 0.028, OR = 1.320, 95% CI: 1.063–1.638) and the haplotypes rs2549782-rs2248374-rs2287988-rs1056893-GTAGC in ERAP2 (0.446 vs. 0.348, P-adj = 4.80E-05, OR = 1.510, 95% CI: 1.246–1.829) was higher in the TB groups, while the frequencies of the haplotypes rs2549782-rs2248374-rs2287988-rs1056893-TAGAT (0.478 vs. 0.539, P-adj = 0.020, OR = 0.782, 95% CI: 0.649–0.943) were lower in the TB groups. The allelic and genotypic associations were also investigated in the subsequent stratification between the PTB, EPTB and control groups as well as between the ITTB, RTB, and control groups. In conclusion, variations in ERAP1 and ERAP2 genes were identified to be associated with TB in the Han Chinese population.

• The study comprehensively analyzed the newborn screening data of metabolism disorder of 189,354 infants in Ningxia Hui Autonomous Region of China and demonstrated the ethnic preference of the disease incidence and genetic variant distribution. • The study provides insights on multi-ethnic patients in 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. [ABSTRACT FROM AUTHOR]

Single nucleotide polymorphisms (SNPs) in the endoplasmic reticulum aminopeptidase (ERAP1 and ERAP2) genes are associated with the pathogenesis of bacterial and viral infections. To search for the variations in the ERAP1 and ERAP2 genes associated with tuberculosis (TB), 449 TB cases and 435 healthy individuals of the Han population in the Yunnan province of China were included in the present study. Eleven SNPs of ERAP s were genotyped using the SNaPshot SNP assay. Allelic, genotypic, and haplotypic association analyses were performed between the TB and control groups. Furthermore, stratification analyses among pulmonary TB (PTB), extrapulmonary TB (EPTB), and healthy controls; and initial treatment TB (ITTB), retreatment TB (RTB), and healthy controls were also performed. The TT genotype of rs26618 in ERAP1 exhibited a protective factor for TB, compared with the role of the CC/CT genotype (P = 0.003; OR = 1.490, 95% CI: 1.140–1.940). In ERAP2 , the frequency of the G allele of rs2549782 was higher in the case group than in the control group (0.491 vs. 0.417, P = 0.002, OR = 1.350, 95% CI: 1.118–1.631), and the TT genotype exhibited a protective factor for TB, compared with the role of the GG/GT genotype (P = 0.001; OR = 1.650, 95% CI: 1.230–2.220). The frequency of the C allele of rs1056893 was higher in the case group than in the control group (0.468 vs. 0.394, P = 0.002, OR = 1.350, 95% CI: 1.118–1.631), and the genotype exhibited a difference in the log-additive model (P = 0.002; OR = 1.350, 95% CI: 1.120–1.630). The frequencies of the haplotype rs27037-rs27044-s30187-rs26618-rs26653-rs3734016-GCCCGC in ERAP1 (0.290 vs. 0.240, P-adj = 0.028, OR = 1.320, 95% CI: 1.063–1.638) and the haplotypes rs2549782-rs2248374-rs2287988-rs1056893-GTAGC in ERAP2 (0.446 vs. 0.348, P-adj = 4.80E-05, OR = 1.510, 95% CI: 1.246–1.829) was higher in the TB groups, while the frequencies of the haplotypes rs2549782-rs2248374-rs2287988-rs1056893-TAGAT (0.478 vs. 0.539, P-adj = 0.020, OR = 0.782, 95% CI: 0.649–0.943) were lower in the TB groups. The allelic and genotypic associations were also investigated in the subsequent stratification between the PTB, EPTB and control groups as well as between the ITTB, RTB, and control groups. In conclusion, variations in ERAP1 and ERAP2 genes were identified to be associated with TB in the Han Chinese population. [ABSTRACT FROM AUTHOR]

Abstract Background It is meaningful to expand the available population information on forensic medicine and to investigate the genetic characteristics of Han population from Jilin Province, Northeast China. Methods In this study, we investigated the genetic characteristics of 24 Y‐chromosomal short tandem repeat (STR) loci in 1,088 unrelated Chinese Han male individuals from Jilin Province, using DNATyperTM Y24 amplification kit. Additionally, we performed the population comparison between the Jilin population and the other nine reported populations based on the Y‐STR genotyping haplotypes. Results A total of 1,067 different haplotypes were found from 1,088 unrelated individuals, of which 1,046 were unique and 21 were shared by two individuals. The gene diversity values of 22 loci ranged from 0.3870 (DYS391) to 0.9668 (DYS385ab). The random match probability was 0.0010 with the discrimination capacity of 0.9807. Population comparison showed that there were minor differences compared to Beijing Chinese Han, China Manchu, Gansu Chinese Han, and Jiangsu Chinese Han, but major differences with respect to the populations of Guangdong Chinese Han, Yunnan Chinese Han, China Hui, China Korean, and China Tibetan. Conclusion Our results showed that the 24 Y‐STR loci in Jilin Han population are valuable for forensic application and human genetics.

AIM: To investigate the relationship between high temperature essential factor A-1(HTRA1)polymorphism and genetic susceptibility of wet age-related macular degeneration(AMD)in Han population. METHODS: Totally 201 patients of wet AMD in Han population were selected from May 2014 to January 2017 in our hospital as disease group, and 201 healthy persons of Han were selected as health group. Blood samples of peripheral vein were collected and genomic DNA was extracted. HTRA1 polymorphism loci were detected, and the rs11200638 and rs2248799 loci of HTRA1 gene were detected by Sequenom mass spectrometry platform. Then the relationship between HTRA1 polymorphism and genetic susceptibility of wet AMD were analyzed. RESULTS: The grade distributions of the genotype of the rs11200638 and rs2248799 loci in the two groups subjects had significant differences(PPPOR values of rs11200638 genotype AA and AG were respectively 5.36 and 3.45, which were the risk factors of wet AMD(POR values of rs2248799 genotype TT and TC were respectively 2.36 and 1.98, which were the risk factors of wet AMD(PCONCLUSION: The rs11200638 and rs2248799 polymorphisms of HTRA1 gene are associated with the incidence of wet AMD, and the genotype AA and TT are closely related to the risk of wet AMD in Han population, of which the higher frequencies can increase the risk of wet AMD.

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Copyright of Journal of Forensic Medicine / Fayixue Zazhi is the property of Journal of Forensic Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To develop a SNP-STR haplotype by consisting of the SNP and STR genetic markers, both of which locate in a haplotype block. To investigate its distribution in Han population from Chengdu, and explore its application in some special cases of paternity testing. Methods D18S51, one of the high mutation rate STR markers in combined DNA index system （CODIS）, and three SNP loci rs8089331, rs8094489 and rs7236090 in its flanking region, were chosen to establish SNP-STR. Its haplotype was obtained by nested allele-specific polymerase chain reaction, and the relevant distribution of 75 unrelated individuals were investigated in Han population from Chengdu. The SNP-STR haplotype was tentatively applied in duo paternity testing cases with D18S51 incompatibility. Results The SNP-STR typing method was established and a total of 43 haplotypes were obtained successfully in Han population from Chengdu. Its polymorphism was 0.948 6, and duo paternity testing cases were resolved by this method. Conclusion SNP-STR shows high diversity and can be applied in the identifications of some special paternity testing cases.

Background : Long noncoding RNAs (lncRNAs) have been confirmed to be associated with ischemic stroke (IS); however, their involvement still needs to be extensively explored. Therefore, we aimed to study the expression profile of lncRNAs and the potential roles and mechanisms of lncRNAs in the pathogenesis of acute ischemic stroke (AIS) in the Southern Chinese Han population. Methods : In this study, lncRNA and mRNA expression profiles in AIS were analyzed using high-throughput RNA sequencing (RNA-Seq) and validated using quantitative real-time polymerase chain reaction (qRT-PCR). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment and network analyses were performed to predict the functions and interactions of the aberrantly expressed genes. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the diagnostic value of lncRNAs in AIS. Results : RNA-Seq analysis showed that 428 lncRNAs and 957 mRNAs were significantly upregulated, while 791 lncRNAs and 4,263 mRNAs were downregulated in patients with AIS when compared with healthy controls. GO enrichment and KEGG pathway analyses of differentially expressed genes showed that the apoptosis, inflammatory, oxidative and calcium signaling pathways were potentially implicated in AIS pathology. The PCR results showed that the selected lncRNA-C14orf64 and lncRNA-AC136007.2 were significantly downregulated in AIS. ROC curve analysis showed that the area under the ROC curve (AUC) values of lncRNA-C14orf64 and lncRNA-AC136007.2 between AIS and healthy controls were 0.74 and 0.94, respectively. Conclusion : This study provides evidence of altered expression of lncRNAs and their potential functions in AIS. Our findings may facilitate pathological mechanistic studies of lncRNAs in AIS and provide potential diagnostic biomarkers and therapeutic targets for AIS. [ABSTRACT FROM AUTHOR]

Objective To analyze the genetic phenotypes of Nantong Han population and evaluate the application value of 17 Y-STR loci in Nantong population. Methods The peripheral blood samples were collected from 343 unrelated Nantong Han males and the genomic DNA were extracted by Chelex-100 method. Genotyping was performed using the AmpF?詛STR YfilerTM Kit. The results were compared with other 12 Han populations, including Anhui, Jiangsu, Jiangxi, Shandong, Shanghai, Zhejiang （1）, Lanzhou, Nanyang, Luzhou, Mudanjiang, Shanxi and Zhejiang （2）, and 9 minority populations （Mongol, Xibe, Tibetan in Lhasa, Tibetan in Qinghai, Kazak, Uighur, Manchu, Paiwan in Taiwan and Tujia）. Results A total of 327 different haplotypes were found in 17 Y-STR loci in Nantong Han population. The haplotype diversity （HD） was 0.999 7. The Rst value between Nantong Han and other Chinese populations ranged from -0.000 6 to 0.263 5. The multidimensional scaling results showed that Nantong Han population had no significant differences between most of the Han populations, but had significant differences between most of Chinese minority populations. Conclusion Seventeen Y-STR loci can be a powerful tool for forensic application because of its high polymorphism in Nantong Han population.

Objective To investigate the allelic distribution of 19 autosomal STR loci in Guizhou Han population, and to estimate the forensic application value. Methods The 19 autosomal STR loci in 520 unrelated healthy individuals from Guizhou Han population were studied using GoldeneyeTM 20A kit. The 310 genetic analyzer was used for capillary electrophoresis, and the GeneMapper?誖ID v3.1 for genotyping. Results The heterozygosis, the discrimination power, the probability of exclusion, the polymorphism information content, the cumulative discrimination power and the cumulative probability of exclusion of the 19 STR loci were 0.603 8-0.916 4, 0.790 0-0.985 6, 0.295 5-0.826 9, 0.553 5-0.908 9, 1-1.230 0×10-22 and 0.999 999 99, respectively. Compared with other five Han populations in pairwise allelic frequencies, Guizhou Han only had significant differences with Shandong Han, Liaoning Han and Shanxi Han. Conclusion The 19 autosomal STR loci such as D19S433 have a highly genetic polymorphic in Guizhou Han population, which have application values in the researches of population genetics and forensic genetics.

Background: The global prevalence of type 2 diabetes mellitus (T2DM) is increasing. T2DM is associated with alterations of the gut microbiota, which can be affected by age, illness, and genetics. Previous studies revealed that there are discriminating microbiota compositions between the Dai and the Han populations. However, the specific gut microbiota differences between the two populations have not been elucidated., Aim: To compare the gut microbiota differences in subjects with and without T2DM in the Dai and Han populations., Methods: A total of 35 subjects of the Han population (including 15 healthy children, 8 adult healthy controls, and 12 adult T2DM patients) and 32 subjects of the Dai population (including 10 healthy children, 10 adult healthy controls, and 12 adult T2DM patients) were enrolled in this study. Fasting venous blood samples were collected from all the subjects for biochemical analysis. Fecal samples were collected from all the subjects for DNA extraction and 16S rRNA sequencing, which was followed by analyses of the gut microbiota composition., Results: No significant difference in alpha diversity was observed between healthy children and adults. The diversity of gut microbiota was decreased in T2DM patients compared to the healthy adults in both the Dai and Han populations. There was a significant difference in gut microbiota between healthy children and healthy adults in the Han population with an increased abundance of Bacteroidetes and decreased Firmicutes in children. However, this difference was less in the Dai population. Significant increases in Bacteroidetes in the Han population and Proteobacteria in the Dai population and decreases in Firmicutes in both the Han and Dai population were observed in T2DM patients compared to healthy adults. Linear discriminant analysis Effect Size analysis also showed that the gut microbiota was different between the Han and Dai populations in heathy children, adults, and T2DM patients. Four bacteria were consistently increased and two consistently decreased in the Han population compared to the Dai population., Conclusion: Differences in gut microbiota were found between the Han and Dai populations. A significant increase in Bacteroidetes was related to the occurrence of T2DM in the Han population, while a significant increase in Proteobacteria was related to the occurrence of T2DM in the Dai population., 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.)

Objective To investigate the genetic polymorphisms of 18 autosomal short tandem repeats （STR） loci in Changsha Han population, and explore the population genetic relationships and evaluate its application value in forensic medicine. Methods The DNA of 2 004 unrelated individuals in Changsha Han population were amplified using Goldeneye?誖DNA ID System BASIC, and the PCR products were analyzed by electrophoresis using 3130xl genetic analyzer. The fragment sizes of alleles were analyzed subsequently by GeneMapper?誖ID v3.2. The frequency data and forensic genetic parameters ［observed heterozygosity （Ho）, expected heterozygosity （He）, power of discrimination （DP） and polymorphic information content （PIC）］ of 18 STR loci were statistically analyzed. Total probability of discrimination （TDP）, probability of exclusion in trio cases （PEtrio） and probability of exclusion in duo cases （PEduo） were calculated by Cervus 3.0. Hardy-Weinberg equilibrium and linkage disequilibrium of the loci were detected by Arlequin v3.5. The results were compared with the available data of other populations from different races and regions. Results The power of discrimination （DP）, and the polymorphic information content （PIC） of each locus of Changsha Han population ranged from 0.783 6 to 0.987 9 and 0.549 4 to 0.914 5, respectively. The TDP, cumulative probability of exclusion in trio cases （CPEtrio） and cumulative probability of exclusion in duo cases （CPEduo） were 0.999 999 999 999 999 999 999 865 2, 0.999 999 979 and 0.999 988 325, respectively. According to the Nei’s DA genetic distance, the genetic distance between Changsha Han and Hunan Han populations was the smallest （0.014 1）, while it was the largest （0.041 8） between Changsha Han and Xinjiang Kazakh populations. Conclusion The 18 STR loci shows abundant genetic polymorphisms in Changsha Han population. The study of genetic diversity among different populations has an important meaning for the research of their origins, migrations and their relationships.

Background: Short tandem repeats (STRs) are genetic markers that are more informative than single nucleotide polymorphisms and they are widely used in forensic DNA analysis. Aim: To carry out the genetic analysis of 20 autosomal STR loci in Han individuals of Putian City, Southeast China, to expand the available population information for human genetic databases and forensic analysis. Subjects and methods: Saliva swabs from 1417 unrelated Chinese Han individuals from Putian City of Southeast China were collected and then genotyped using the SureID® 21G Human STR Identification Kit. Moreover, phylogenetic analysis based on the Nei's standard genetic distance was performed between the Han population and other relevant populations based on the shared autosomal STR genotyping. Results: We found 272 alleles among 1417 unrelated individuals and the corresponding allelic frequencies ranged from 0.5409 to 0.0004. The combined power of exclusion (CPE) was 0.999999995514, and the combined power of discrimination (CPD) was 0.9999999999999999999999994061. Population comparison revealed that the Putian Han population makes a cluster with other Han populations from China while showing significant differences when compared with other worldwide populations. Conclusions: Our results found that the SureID® 21G Human STR Identification Kit panel was appropriate for forensic identity testing and paternity testing. Putian Han population had a closer genetic relationship with Han populations from other regions in China, while other minorities like Uighurs and Kazakhs from China showed significant differences. [ABSTRACT FROM AUTHOR]

Purpose: China harbors 56 ethnic groups and Han accounts for >92% of the total Chinese population. We investigated the frequencies of 15 autosomal short tandem repeat (STR) loci in the Han population of the Ili Kazakh Autonomous Prefecture with the aim of expanding the available population information in human genetics databases and for forensic DNA analysis. Subjects and Methods: We explored the genetic characteristics of 15 autosomal STR loci in 552 unrelated Chinese Han individuals from Ili Kazakh Autonomous Prefecture, Northwestern China using the AmpFISTR Identifiler PCR Amplification Kit. Moreover, phylogenetic analysis was performed between the Han population and other relevant populations based on the autosomal STR genotyping. The neighbor‐joining tree and principle component analysis were generated based on the Nei's standard genetic distance and allelic frequencies, respectively. Results: A total of 171 alleles were observed among 552 unrelated individuals and allelic frequencies ranged from 0.5145 to 0.0009. The combined power of discrimination and combined power of exclusion of the 15 autosomal STR loci were 0.9999999999999999964 and 0.999998243616671, respectively. Conclusions: Population comparison revealed that the Ili Han population were lining up together with other Han populations in China while showing significant differences from other Chinese and worldwide populations. [ABSTRACT FROM AUTHOR]

Objective:To explore the association between vitamin K epoxide reductase complex subunit 1 (VKORC1) gene rs9923231 and γ-glutamyl carboxylase (GGCX) gene rs2592551 polymorphism and cardiogenic cerebral embolism in Xinjiang Uygur and Han populations. Methods: 50 patients with cerebral embolism caused by sporadic atrial fibrillation in Uygur and Han nationality who had been treated in the Department of Neurology, the Sixth Affiliated Hospital of Xinjiang Medical University from January 2017 to October 2018 as a case group. At the same time, 50 non-cardiac stroke Uygur patients and 150 Han patients were selected as the control group. Genomic DNA was extracted from peripheral venous blood, and the distribution of VKORC1 gene rs9923231 and GGCX gene rs2592551 polymorphisms in different populations was detected by PCR-RFLP technique. Results: The frequency distribution of VKORC1 gene rs9923231 polymorphism in Uygur cerebral embolism group and control group was statistically significant (P<0.05); Han nationality cerebral embolism group and control group VKORC1 gene rs9923231 polymorphism gene There was no significant difference in the distribution of type frequency (P>0.05). There was no significant difference in the distribution of GGCX gene rs2592551 polymorphism in Han and Uygur cerebral embolism group and control group (P>0.05). Conclusion: The VKORC1 gene rs9923231 polymorphism may be associated with the onset of cardiogenic cerebral embolism in Xinjiang Uygur population, but not related to the incidence of cerebral embolism in Han population; The GGCX gene rs2592551 polymorphism may not be associated with the onset of cardiogenic cerebral embolism in Uygur and Han populations. [ABSTRACT FROM AUTHOR]

Ancestry informative SNPs (AISNPs) are genetic variants that exhibit substantially different frequencies between populations from different geographical regions; thus, they can provide some valuable information regarding samples and be used in predicting an individual's ancestry origin. In this study, we selected the potentially best SNPs from our previous study with genome-wide high-density SNP data in mainland Chinese Uygur and Han populations and investigated the allele distribution patterns and genetic information of AISNPs with a mass spectrometry-based SNP genotyping panel. Mass spectrometry-based detection technology offers the opportunity to analyze forensic DNA samples and obtain SNP variants with accuracy and ease. The panel can distinguish and cluster Han and Uygur populations and is suitable for human identification and parentage testing in the two populations. Heatmap, PCA, and Structure analyses indicated that the ideal 64 AISNPs can collectively provide additional information on differences among populations from East Asia, South Asia, Europe and Africa. Additionally, the results proved that the Uygur population is the admixture of East Asia and Europe. • This work uses an efficient and low-cost technology to obtain SNP variants. • The custom SNP panel can distinguish Han and Uygur populations. • The custom SNP panel is suitable for human identification and parentage testing. • Half of the recommended DNA can be used to obtain reliable genotyping results. [ABSTRACT FROM AUTHOR]

The aim of this study was to compare the accuracy of the Demirjian method and the Demirjian method as revised by Willems for age estimation based on orthopantomograms from central southern Chinese Han population aged 8-16 years. Discrepancies between chronological and estimated ages were statistically evaluated by analyzing 1249 orthopantomograms from 603 girls and 646 boys. Using the Demirjian method, the mean age estimates underestimated chronological age by 0.03 years (p = 0.48) for girls and overestimated it by 0.03 years (p = 0.59) for boys; these differences with respect to chronological age were not statistically significant. In contrast, the Willems method underestimated chronological age by 0.54 years (p < 0.01) for girls and 0.44 years (p < 0.01) for boys; these differences with respect to chronological age were statistically significant. Compared to the Demirjian method, the overall mean absolute error generated using the Willems method was slightly higher (0.85 and 0.86 years, respectively). Since the Demirjian method was more accurate, we highly recommend that it should be applied when estimating dental age in the Chinese Han population. Further modifications of these two methods for populations from other regions and additional studies of other age groups are warranted. [ABSTRACT FROM AUTHOR]