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BACKGROUND: The expression of CYP19A1 has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in CYP19A1 and bladder cancer risk, as no prior research has addressed this association. RESEARCH DESIGN AND METHODS: We selected and genotyped five CYP19A1 SNPs (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) in 217 patients and 550 controls using the Agena MassARRAY system. Logistic regression analysis was employed to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Bioinformatics predicted SNP functions and CYP19A1 involving pathways. RESULTS: Our study revealed a significant association between bladder cancer risk and four SNPs (rs4646 (AC vs. CC: OR = 1.71, FDR-p = 0.005), rs6493487 (G vs. A: OR = 0.68, FDR-p = 0.011), rs1062033 (G vs. C: OR = 0.36, FDR-p < 0.001), and rs17601876 (GA vs. GG: OR = 1.66, FDR-p = 0.008)) in CYP19A1. The three SNPs (rs4646, rs1062033, and rs17601876) were significantly correlated with CYP19A1 expression levels in normal whole blood (p < 0.05). Moreover, CYP19A1 was found to primarily participate in the steroid hormone biosynthesis and metabolic pathways. CONCLUSIONS: Consequently, CYP19A1 gene polymorphisms may play a crucial role in the genetic susceptibility to bladder cancer.
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High altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema. In recent years, association studies have become the main method for identifying HAPE genetic loci. A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom™). Eight overlapping candidate loci in CCNG2, RP11-445O3.2, NUPL1 and WWOX were finally selected. In silico functional analyses displayed the PPI network, functional enrichment and signal pathways related to CCNG2, NUPL1, WWOX and NRXN1. This study provides data supplements for HAPE susceptibility gene loci and new insights into HAPE susceptibility.
Subject(s)
Altitude Sickness , Asian People , Genetic Predisposition to Disease , Genome-Wide Association Study , Polymorphism, Single Nucleotide , Humans , Male , Genetic Predisposition to Disease/genetics , Genome-Wide Association Study/methods , Asian People/genetics , China , Altitude Sickness/genetics , Polymorphism, Single Nucleotide/genetics , Hypertension, Pulmonary/genetics , Case-Control Studies , Genetic Loci/genetics , Adult , East Asian PeopleABSTRACT
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.
Subject(s)
Age Determination by Skeleton , Asian People , Cranial Sutures , Machine Learning , Tomography, X-Ray Computed , Humans , Cranial Sutures/diagnostic imaging , Middle Aged , Adult , Aged , Aged, 80 and over , Age Determination by Skeleton/methods , Retrospective Studies , Female , China/ethnology , Male , Skull/diagnostic imaging , Forensic Anthropology/methods , Bayes Theorem , Image Processing, Computer-Assisted/methods , Imaging, Three-Dimensional , Ethnicity , Linear Models , East Asian PeopleABSTRACT
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.
Subject(s)
Age Determination by Skeleton , Deep Learning , Imaging, Three-Dimensional , Ischium , Tomography, X-Ray Computed , Humans , Male , Female , Ischium/diagnostic imaging , Adult , Middle Aged , Tomography, X-Ray Computed/methods , Imaging, Three-Dimensional/methods , China , Retrospective Studies , Age Determination by Skeleton/methods , Aged , Young Adult , Aged, 80 and over , Reproducibility of ResultsABSTRACT
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.
Subject(s)
Anticoagulants , Cytochrome P-450 CYP2C9 , Vitamin K Epoxide Reductases , Warfarin , Adult , Aged , Female , Humans , Male , Middle Aged , Anticoagulants/administration & dosage , Anticoagulants/pharmacokinetics , Bayes Theorem , China , Cytochrome P-450 CYP2C9/genetics , Cytochrome P-450 CYP2C9/metabolism , International Normalized Ratio , Vitamin K Epoxide Reductases/genetics , Warfarin/administration & dosage , Warfarin/pharmacokinetics , East Asian PeopleABSTRACT
The purpose of the study is to investigate the relationship of peri-implantitis (PI) with FCGR2A and FCGR3A gene polymorphisms. One hundred and forty-four patients with PI and 136 patients without PI infection were selected. Gingival crevicular fluid samples were collected from the two groups. The FCGR2A and FCGR3A polymorphism in the two groups were measured. All volunteers were evaluated for periodontal status. The effect of polymorphisms on PI susceptibility was investigated by chi-square analysis and logistic regression. The frequency of FCGR2A rs1801274 GG genotype of PI group was higher than that of the control group, while the GA and AA genotype carriers were less in PI group. After adjusting for other clinical indicators, rs1801274 GA genotype, AA genotype, and the A allele were still negatively correlated with the onset of PI. FCGR3A rs396991 polymorphism was not associated with PI. FCGR2A rs1801274 polymorphism was significantly associated with PI in the Chinese Han population, and GG genotype might be a genetic risk factor for PI.
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PURPOSE: This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) in DPF3 and susceptibility to pulmonary tuberculosis (PTB) in the Northwest Chinese Han population. METHODS: Genotyping of four DPF3 SNPs (rs10140566, rs75575287, rs202075571, and rs61986330) was performed using Agena MassARRAY from 488 PTB patients and 488 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression. Multifactor dimensionality reduction (MDR) analysis was employed to investigate the effect of SNP-SNP interactions on PTB risk. The GSE54992 dataset was analyzed using R software to ascertain DPF3 expression levels. RESULTS: Overall analysis revealed that rs202075571 (allele: OR = 1.31, p = 0.015; CC vs. TT: OR = 1.97, p = 0.049; dominant: OR = 1.33, p = 0.032) and rs61986330 (allele: OR = 1.38, p = 0.010; CA vs. CC: OR = 1.35, p = 0.044; dominant: OR = 1.40, p = 0.019) were associated with an increased PTB risk. Stratified analysis showed that rs10140566 was a PTB risk factor in females, those aged ≤40 and non-smokers, and rs202075571 was associated with PTB risk in individuals aged >40 and smokers, and rs61986330 was associated with PTB risk in males, those aged >40 and smokers. The four SNPs model demonstrated significant predictive potential for PTB risk. Furthermore, DPF3 exhibited higher expression in PTB compared to healthy controls. CONCLUSION: DPF3 polymorphisms (rs10140566, rs202075571, and rs61986330) are associated with an increased risk of PTB, providing valuable new insights into the mechanism of PTB.
Subject(s)
DNA-Binding Proteins , Genetic Predisposition to Disease , Transcription Factors , Tuberculosis, Pulmonary , Adult , Female , Humans , Male , Middle Aged , Alleles , Case-Control Studies , China/epidemiology , DNA-Binding Proteins/genetics , East Asian People/genetics , Genotype , Polymorphism, Single Nucleotide , Risk Factors , Transcription Factors/genetics , Tuberculosis, Pulmonary/geneticsABSTRACT
INTRODUCTION: Multiple insertion-deletion (multi-InDel) has greater potential in forensic genetics than InDel, and its efficacy in kinship testing, individual identification, DNA mixture detection and ancestry inference remains to be explored. METHODS: Consequently, we designed an efficient and robust system consisting of 41 multi-InDels to evaluate its efficacy in forensic applications in Chinese Hezhou Han (HZH) and Southern Shaanxi Han (SNH) populations and explore the genetic relationships between the SNH, HZH, and 26 reference populations. RESULTS AND CONCLUSION: The obtained results showed that 38 out of the 41 multi-InDels had fairly high genetic variations. The the cumulative probability of discrimination and exclusion values of the multi-InDels (except MI38) in HZH and SNH populations both exceeded 1-e-25 and 1-e-6, correspondingly. The genetic compositions of HZH and SNH individuals were similar to that of East Asians and the Naive Bayes model could well distinguish East Asians, Africans and Americans. These results indicated that the multi-InDel systerm can serve as an effective tool to provide important evidence for the development of multi-InDels in forensic practice and better analyse the genetic background of the Han Chinese populations.
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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.
Subject(s)
Cell Differentiation , Induced Pluripotent Stem Cells , Humans , Male , Induced Pluripotent Stem Cells/metabolism , Adult , Depression , Cell Line , Cellular Reprogramming , Leukocytes, Mononuclear/metabolism , Leukocytes, Mononuclear/cytologyABSTRACT
BACKGROUND: Breast cancer (BC) is the leading cause of cancer death among women worldwide. The nudix hydrolase 17 (NUDT17) may play notable roles in cancer growth and metastasis. In this study, we explored the importance of NUDT17 gene polymorphism in patients with BC. METHODS: In our study, 563 BC patients and 552 healthy controls participated. We used logistic regression analysis to calculate odds ratios (OR) and 95% confidence intervals (CI), and multifactor dimension reduction (MDR) analysis of SNP-SNP interactions. Finally, UALCAN and THPA databases were used for bioinformatics analysis. RESULTS: The rs9286836 G allele was associated with a decreased the BC risk (p = 0.022), and the carriers of rs2004659 G allele had a 32% decreased risk of BC than individuals with allele A (p = 0.004). In the four genetic models, rs9286836 and rs2004659 reduced the risk of BC. Additionally, we found that the NUDT17 SNPs were associated with BC risk under age, tumor size, and clinical stage stratification. The MDR analysis showed that the five-locus interaction model was the best in the multi-locus model. CONCLUSION: Our study found that NUDT17 single nucleotide polymorphisms are associated with BC susceptibility in Chinese Han population.
Subject(s)
Breast Neoplasms , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Pyrophosphatases , Humans , Breast Neoplasms/genetics , Female , Middle Aged , Pyrophosphatases/genetics , Alleles , Adult , Case-Control Studies , Genotype , Odds Ratio , Genetic Association Studies , Aged , Risk FactorsABSTRACT
BACKGROUND: Previously, a novel multiplex system of 64 loci was constructed based on capillary electrophoresis platform, including 59 autosomal insertion/deletions (A-InDels), two Y-chromosome InDels, two mini short tandem repeats (miniSTRs), and an Amelogenin gene. The aim of this study is to evaluate the efficiencies of this multiplex system for individual identification, paternity testing and biogeographic ancestry inference in Chinese Hezhou Han (CHH) and Hubei Tujia (CTH) groups, providing valuable insights for forensic anthropology and population genetics research. RESULTS: The cumulative values of power of discrimination (CDP) and probability of exclusion (CPE) for the 59 A-InDels and two miniSTRs were 0.99999999999999999999999999754, 0.99999905; and 0.99999999999999999999999999998, 0.99999898 in CTH and CHH groups, respectively. When the likelihood ratio thresholds were set to 1 or 10, more than 95% of the full sibling pairs could be identified from unrelated individual pairs, and the false positive rates were less than 1.2% in both CTH and CHH groups. Biogeographic ancestry inference models based on 35 populations were constructed with three algorithms: random forest, adaptive boosting and extreme gradient boosting, and then 10-fold cross-validation analyses were applied to test these three models with the average accuracies of 86.59%, 84.22% and 87.80%, respectively. In addition, we also investigated the genetic relationships between the two studied groups with 33 reference populations using population statistical methods of FST, DA, phylogenetic tree, PCA, STRUCTURE and TreeMix analyses. The present results showed that compared to other continental populations, the CTH and CHH groups had closer genetic affinities to East Asian populations. CONCLUSIONS: This novel multiplex system has high CDP and CPE in CTH and CHH groups, which can be used as a powerful tool for individual identification and paternity testing. According to various genetic analysis methods, the genetic structures of CTH and CHH groups are relatively similar to the reference East Asian populations.
Subject(s)
Genetics, Population , Siblings , Humans , Phylogeny , China , INDEL Mutation , Microsatellite Repeats , Forensic Genetics/methods , Gene FrequencyABSTRACT
OBJECTIVE: Systemic sclerosis (SSc) is a heterogeneous connective tissue disease that is commonly subdivided into limited cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc) based on the extent of skin involvement. This subclassification may not reflect the full range of clinical phenotypic variation. This study aimed to investigate clinical features and aggregation of patients with SSc in Chinese based on SSc manifestations and organ involvements, in order to achieve precise treatment of SSc early prevention of complications. METHODS: In total 287 SSc patients were included in this study. A cluster analysis was applied according to 13 clinical and serologic variables to determine subgroups of patients. Survival rates between obtained clusters and risk factors affecting prognosis were also compared. RESULT: In this study, six clusters were observed: cluster 1 (n = 66) represented the skin type, with all patients showing skin thickening. In cluster 2 (n = 56), most patients had vascular and articular involvement. Cluster 3 (n = 14) individuals mostly had cardiac and pulmonary involvement. In cluster 4 (n = 52), the gastrointestinal type, 50 patients presented with stomach symptoms and 28 patients presented with esophageal symptoms. In cluster 5 (n = 50), patients barely had any major organ involvement. Cluster 6 (n = 49) included 46% of all patients presenting with renal crisis. CONCLUSION: The results of our cluster analysis study implied that limiting SSc patient subgroups to those based only on skin involvement might not capture the full heterogeneity of the disease. Organ damage and antibody profiles should be considered when identifying homogeneous patient groups with a specific prognosis. Key Points ⢠Provides a new method of categorizing SSc patients. ⢠Can better explain disease progression and guide subsequent treatment.
Subject(s)
Scleroderma, Diffuse , Scleroderma, Systemic , Humans , Scleroderma, Systemic/complications , Phenotype , Cluster Analysis , ChinaABSTRACT
INTRODUCTION: Obesity not only affects human health but also is an important risk factor for a variety of chronic diseases. Therefore, it is particularly important to analyse the epidemic trend of obesity and actively carry out the prevention and control of obesity in the population. MATERIAL AND METHODS: A total of 4565 adults were selected by multi-stage stratified random sampling in Shenmu, Shaanxi Province, China. Univariate analysis was used to explore the epidemic characteristics of obesity in this region. Multivariate logistic regression was used to analyse the relationship between obesity and chronic diseases. Finally, the prediction efficiency of different obesity indexes was analysed by drawing receiver operator characteristic curves (ROC). All statistical analysis was completed by SPSS 26.0 software. RESULTS: The prevalence rates of overweight, obesity, and central obesity were 39.9%, 18.2%, and 48.0%, respectively. After adjusting for other confounding factors, multivariate logistic regression analysis showed that overweight and obesity were risk factors for hypertension, dyslipidaemia, and hyperuricaemia. Central obesity is a risk factor for dyslipidaemia and hyperuricaemia. High level of waist-to-height ratio (WHtR) was a risk factor for dyslipidaemia and hyperuricaemia (p < 0.05). Obesity-related indicators: body mass index (BMI), waist circumference (WC), and WHtR, are strongly correlated with the increased risk of chronic diseases in northern Shaanxi, China. The optimal BMI cut-off values for predicting hypertension, dyslipidaemia, and hyperuricaemia were 24.27, 24.04, and 25.54, respectively. The optimal WC cut-off values for predicting dyslipidaemia and hyperuricaemia were 84.5 and 90.5, and WHtR cut-off values were 0.52 and 0.54, respectively. CONCLUSION: The problem of overweight, obesity, and central obesity in adults is serious in northern Shaanxi, China. Obesity of all types will increase the risk of chronic diseases. Therefore, a variety of preventive and therapeutic measures should be adopted to curb obesity and reduce the incidence of related chronic diseases.
Subject(s)
Dyslipidemias , Hypertension , Hyperuricemia , Adult , Humans , Obesity, Abdominal/epidemiology , Obesity, Abdominal/complications , Overweight/complications , Hyperuricemia/epidemiology , Hyperuricemia/complications , Prevalence , Obesity/complications , Dyslipidemias/complications , China/epidemiologyABSTRACT
BACKGROUND: Coronary heart disease (CHD) has become a worldwide public health problem. Genetic factors are considered important risk factors for CHD. The aim of this study was to explore the correlation between CYP4A22 gene polymorphism and CHD susceptibility in the Chinese Han population. METHODS: We used SNPStats online software to complete the association analysis among 962 volunteers. False-positive report probability analysis was used to confirm whether a positive result is noteworthy. Haploview software and SNPStats were used for haplotype analysis and linkage disequilibrium. Multi-factor dimensionality reduction was applied to evaluate the interaction between candidate SNPs. RESULTS: In overall and some stratified analyses (male, age ≤ 60 years or CHD patients complicated with hypertension), CYP4A22-rs12564525 (overall, OR = 0.83, p-value is 0.042) and CYP4A22-rs2056900 (overall, OR = 1.22, p-value is 0.032) were associated with the risk of CHD. CYP4A22-4926581 was associated with increased CHD risk only in some stratified analyses. FPRP indicated that all positive results in our study are noteworthy findings. In addition, MDR showed that the single-locus model composed of rs2056900 is the best model for predicting susceptibility to CHD. CONCLUSION: There are significant associations between susceptibility to CHD and CYP4A22 rs12564525, and rs2056900.
Subject(s)
Coronary Disease , Hypertension , Female , Humans , Male , Middle Aged , Asian People/genetics , Coronary Disease/genetics , Cytochrome P-450 CYP4A/genetics , Cytochrome P-450 Enzyme System/genetics , Polymorphism, Single Nucleotide , Risk FactorsABSTRACT
Early childhood caries (ECC) is common in children. Little is known about the genetic association of the methionine synthesis reductase (MTRR) gene rs1801394 and methionine synthetase (MTR) gene rs1805087 polymorphisms with ECC, which was examined in the Chinese Han population. Genotyping was performed using the buccal mucosa from 150 normal and 150 ECC children. For genotype and allele distribution comparison, Chi-square test and multiple logistic regression analysis were performed. The odd ratio (OR) and 95% confidence interval (CI) were calculated. MTR gene rs1805087 AG genotype distribution in the ECC group was clearly different from the control group (P = 0.029), and the ECC risk in cases with AG genotype was 0.525 times lower than those carrying AA genotype (95% CI = 0.292-0.942). Logistic regression analysis after adjustment for other clinical indicators determined that the MTR gene rs1805087 AG genotype was still strongly associated with susceptibility to ECC (OR = 0.499, 95% CI = 0.273-0.913, P = 0.024). Significant association was also seen for sugary food intakes (OR = 1.965, 95% CI = 1.162-3.321, P = 0.012), tooth brushing (OR = 0.569, 95% CI = 0.356-0.924, P = 0.023) and sex (OR = 0.562, 95% CI = 0.349-0.907, P = 0.018) with ECC risk. No notable genetic association was found between MTRR gene rs1801394 polymorphism and ECC risk. MTR gene rs1805087 polymorphism may aggrandize the susceptibility to ECC, and AA genotype appeared to be a dangerous element for the development of ECC.
Subject(s)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase , Dental Caries , Genetic Predisposition to Disease , Child , Child, Preschool , Female , Humans , Male , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Case-Control Studies , China , Dental Caries/genetics , East Asian People/genetics , Gene Frequency/genetics , Genetic Association Studies , Logistic Models , Odds Ratio , Polymorphism, Single Nucleotide , Risk FactorsABSTRACT
BACKGROUND: 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). METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Subject(s)
Diabetes Mellitus , Diabetic Retinopathy , Photochemotherapy , Humans , Photochemotherapy/methods , Photosensitizing Agents , Retina/diagnostic imaging , Choroid , China/epidemiologyABSTRACT
OBJECTIVES: This study aimed to detect the correlation between SOWAHB polymorphisms and Thyroid cancer (TC) risk in the Chinese Han population. METHODS: We genotyped SOWAHB variants in 510 TC patients and 509 controls using Agena MassARRAY. We assessed the association between SOWAHB polymorphisms and TC susceptibility, with the significant results evaluated through FPRP analysis. We predicted TC risk by the SNP-SNP interaction, analyzed by MDR. RESULTS: Carriers with rs2703129 CC had a lower probability of TC (codominant, recessive: p = 0.002), while subjects with rs1874564 AG had an increased risk of developing TC (codominant, recessive: p = 0.000, log-additive: p = 0.028). In subjects aged > 45 years, rs2703129 may reduce TC predisposition (codominant: p = 0.011, recessive: p = 0.007), but there was an increased association between rs1874564 and TC risk (codominant: p = 0.030, dominant: p = 0.047). Also, rs2703129 was associated with a lower risk of TC among males (codominant: p = 0.018, recessive: p = 0.013). Conversely, rs1874564 was associated with an increased risk of TC in females (codominant: p = 0.001, dominant: p = 0.003). CONCLUSION: SOWAHB SNPs were related to the occurrence of TC, and rs2703129 may be a protective site for TC.
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BACKGROUNDS: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a severe congenital malformation of the female genital tract, is a highly heterogeneous disease which has no clear etiology. Previous studies have suggested that copy number variations (CNVs) and single-gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of type I MRKH syndrome in the Chinese Han population. METHODS: We recruited 143 patients diagnosed with type I MRKH between 2012 and 2014. Five hundred unrelated Chinese without congenital malformation were enrolled in control group, consisting of 197 from the 1000 Genomes Project and 303 from Fudan University. Quantitative PCR, array comparative genomic hybridization, and sanger sequencing were conducted to screen and verify candidate variant. RESULTS: Our study identified recurrent 16p11.2 microdeletions of approximately 600 kb in two out of the 143 type I MRKH syndrome patients using high-density array-based comparative genomic hybridization (aCGH), while no 16p11.2 deletion was found in the control group. We did not find any mutations in TBX6 gene in our samples. CONCLUSIONS: The results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders.
Subject(s)
46, XX Disorders of Sex Development , Congenital Abnormalities , DNA Copy Number Variations , Mullerian Ducts/abnormalities , Humans , Female , Retrospective Studies , Comparative Genomic Hybridization , 46, XX Disorders of Sex Development/genetics , T-Box Domain Proteins/geneticsABSTRACT
AIMS/INTRODUCTION: Different types of diabetes show distinct genetic characteristics, but the specific genetic susceptibility factors remain unclear. Our study aimed to explore the associations between the ribosomal protein S26 (RPS26) gene rs1131017 polymorphisms and susceptibility to type 1 diabetes mellitus, latent autoimmune diabetes in adults (LADA) and type 2 diabetes mellitus in the Chinese Han population, and their correlations with clinical features. MATERIALS AND METHODS: Genotyping of the rs1131017 variant was carried out for 1,006 type 1 diabetes mellitus patients, 210 LADA patients, 642 type 2 diabetes mellitus patients and 2,099 control individuals. RESULTS: We found that the rs1131017 C allele was a risk locus for both type 1 diabetes mellitus and LADA (odds ratio [OR] 1.50, 95% confidence interval [CI] 1.33-1.69, P < 0.001; OR 1.31, 95% CI 1.04-1.64, P = 0.021, respectively). Nevertheless, this association was not found for type 2 diabetes mellitus. Carrying the C allele genotype was associated with a lower postprandial C-peptide for type 1 diabetes mellitus (OR 1.41, 95% CI 1.11-1.80, P = 0.006) and lower fasting C-peptide for LADA (OR 1.55, 95% CI 1.01-2.38, P = 0.047). Interestingly, a lower GC frequency was noted for LADA than for type 1 diabetes mellitus, regardless of classification based on age at diagnosis, C-peptide or glutamic acid decarboxylase antibody positivity. CONCLUSIONS: The RPS26 polymorphism was associated with susceptibility and clinical characteristics of type 1 diabetes mellitus and LADA in the Chinese population, but was not related to type 2 diabetes mellitus. Thus, it might serve as a novel biomarker for particular types of diabetes.
Subject(s)
Diabetes Mellitus, Type 1 , Diabetes Mellitus, Type 2 , Latent Autoimmune Diabetes in Adults , Adult , Humans , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 1/genetics , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/genetics , C-Peptide , Polymorphism, Genetic , China/epidemiology , AutoantibodiesABSTRACT
BACKGROUND: Stroke is an important cause of death and disability worldwide, ranking second in the cause of death, and it is thought to be related to genetic factors. The purpose of our study is to investigate the association between CASZ1, WNT2B and PTPRG single nucleotide polymorphisms (SNPs) and stroke risk in the Chinese population. METHODS: We recruited 1418 volunteers, comprised of 710 stroke cases and 708 controls in this study. We used MassARRAY iPLEX GOLD method to genotype the three SNPs on CASZ1, WNT2B and PTPRG. Logistic regression was used to analyse the association between these SNPs and stroke, and odds ratios (ORs) and 95% confidence intervals (CIs) were then calculated. What's more, the interactions among SNPs were predicted by multi-factor dimensionality reduction (MDR) analysis. RESULTS: This research demonstrated that CASZ1 rs880315 and PTPRG rs704341 were associated with reduced stroke susceptibility. More precisely, CASZ1 rs880315 was associated with reduced stroke susceptibility in people aged ≤64 years and women. PTPRG rs704341 was associated with reduced stroke susceptibility in people aged >64 years, women, non-smokers and non-drinkers. Conversely, WNT2B rs12037987 was related to elevated stroke susceptibility in people aged >64 years, women and non-smokers. In addition, CASZ1 rs880315, WNT2B rs12037987 and PTPRG rs704341 had a strong redundancy relationship. CONCLUSION: Our study concludes that CASZ1 rs880315, WNT2B rs12037987 and PTPRG rs704341 are associated with stroke, and the study provides a basis for assessing genetic variants associated with stroke risk in the Han Chinese population.