1.Association between single nucleotide polymorphisms at LOXL1 promoter and Uygur patients with exfoliation syndrome
Mengying, GUO ; Mengting, YANG ; Yinu, MA ; Mingmei, ZHANG ; Xueyi, CHEN
Chinese Journal of Experimental Ophthalmology 2015;33(8):733-738
Background Exfoliation syndrome (XFS) is a systemic disease with abnormal accumulation of extracellular matrix.Researches showed that the single nucleotide polymorphisms (SNPs) of lysyl oxidase-like 1 (LOXL1) gene is associated with the pathogenesis of XFS in global population.However,the results are varied among different ethnicity and regions.Objective This study aimed to assess the association between LOXL1 gene polymorphisms and XFS in Uygur population.Methods One-hundred and fifty-two Uygur XFS patients without relativeness were enrolled from January to August in 2014,and 228 ethnicity-and gender-matched normal controls were recruited at the same period from the same region.Each individual underwent comprehensive eye examinations and 5 ml peripheral blood was collected.Genomic DNA was extracted from peripheral blood.PCR-ligase detection response (LDR) was used to determine the allele and genotype frequencies of the six SNPs rs12914489,rs4886467,rs4558370,rs4461027,rs4886761 and rs16958477 in the promoter region of LOXL1 gene.The distribution frequency between the patients and normal controls was compared by x2 test.Logistic regression analysis was used for age adjustment.This study was approved by Ethic Committe of Xinjiang Medical University,and informed consent was obtained from the subjects.Results rs12914489 site in the normal control group diverged from Hardy-Weinberg equilibrium (HWE) (P =0.033),and the rs4886467,rs4558370,rs4461027,rs4886761 and rs16958477 sites followed HWE.The frequencies of G allele and GG genotype of rs4886467 in the XFS group were lower than those in the control group (both at P =0.00) and were protective factors of XFS (OR =0.54,95 % CI:0.40-0.74,P =0.000;OR=0.51,95% CI:0.33-0.78,P=0.001);the frequencies of T allele and TT genotype of rs4558370 in the XFS group were significantly higher than those in the control group (both at P=0.00) and were the risk factors of XFS (OR=1.96,95% CI:1.23-3.11,P =0.004;OR =2.18,95% CI:1.31-3.64,P =0.002);the frequencies of C allele and CC genotype of rs4461027 in the XFS group were significantly higher than those in the control group (both at P=0.00) and were the risk factors of XFS (OR=2.25,95% CI:1.67-3.04,P=0.000;OR=3.06,95% CI:1.89-4.96,P=0.000);the frequencies of T allele and TT genotype of rs4886761 in the XFS group were significantly higher than those in the control group (both at P=0.00) and were the risk factors of XFS (OR=2.44,95% CI:1.79-3.33,P =0.000;OR =3.02,95% CI:1.63-5.60,P =0.000);the frequencies of C allele and CC genotype of rs16958477 in the XFS group were significantly higher than those in the control group (both at P=0.00) and were the risk factors of XFS (OR =2.00,95 % CI:1.47-2.71,P =0.000;OR =2.37,95 % CI:1.31-4.27,P =0.004).Conclusions The SNPs of promoter region of LOXL1 gene are associated with hereditary susceptibility of XFS individually in Uygur population.The SNPs of rs4886467 locus are protective factor,while the SNPs of rs4558370,rs4461027,rs4886761 and rs16958477 locus are risk factors for pathogenesis of XFS.
2. Application of kite subcutaneous pedicled skin flap to repair philtrum skin defects
Qiang SUN ; Mengying CUI ; Kaijian ZHOU ; Xu SUN ; Shuang TONG ; Shu GUO
Chinese Journal of Plastic Surgery 2018;34(12):1020-1022
Objective:
To evaluate the clinical effect of subcutaneous pedicle skin flap for repairing skin and soft tissue defect in the philtrum area.
Methods:
From November 2015 to July 2016, 6 patients with pigmented nevus and basal cell carcinoma were treated with regional subcutaneous pedicled flaps. The functional and aesthetical outcomes were evaluated.
Results:
Follow-up was performed at 6-12 months postoperatively. All 6 flaps survived. The wounds healing was good, and the postoperative appearance was satisfactory.
Conclusions
The kite subcutaneous pedicled flap is an ideal method for repairing the skin and soft tissue defects in philtrum area, and it can produce satisfactory clinical results.
3.Sinicization and reliability and validity of adolescent lifestyle profile-revised 2(ALP-R2)
Mengying TIAN ; Yuan XUE ; Yuanbing GUO ; Xiaowei PENG
Chinese Journal of Behavioral Medicine and Brain Science 2023;32(8):746-750
Objective:To develop the Chinese version of the adolescent lifestyle profile-revised 2 (ALP-R2) and evaluate its reliability and validity.Methods:The original ALP-R2 was translated into Chinese edition, then tested by random sampling in middle school students.SPSS 23.0 and AMOS 17.0 were conducted exploratory factor analysis and confirmatory factor analysis to evaluate the reliability and validity of the Chinese version of ALP-R2.Results:(1) The Chinese version of ALP-R2 contained 43 items through item analysis, then exploring factor analysis showed that it contained 7 sub-scales(F1: health responsibility, F2: physical activity, F3: nutrition, F4: positive life perspective, F5: stress management, F6: spiritual health, F7: interpersonal relationships)with 40 items, and could explain 61.044% of the total variances. (2) The results of confirmatory factor analysis showed that the revised ALP-R2 had good construct validity( χ2/ df=4.97, GFI=0.98, NNFI=0.97, CFI=0.90, RMSEA=0.12). The scores of various factors in ALP-R2 were significantly correlated with the total score of Chinese adolescent lifestyles scale(CALS)( r=0.38-0.65, all P<0.05). (3) Internal consistency reliability was 0.711-0.801, the test-retest reliability was 0.723-0.822, and split-half reliability was 0.708-0.845. Conclusion:The Chinese version of ALP-R2 has good reliability and acceptable validity, and can be used to evaluate the lifestyle of adolescents.
4.Signal mining for cutaneous adverse events associated with antibody-drug conjugates based on FAERS database
Mengying QIAN ; Yongyi ZHANG ; Qing SHAN ; Yan CHEN ; Bing LI ; Jinmin GUO
Chinese Journal of Pharmacoepidemiology 2024;33(10):1091-1098
Objective To mine and analyze cutaneous adverse drug event(ADE)of eight antibody-drug conjugates(ADC),and to ensure the safe clinical use of ADC drugs.Methods The data was obtained from the U.S.Food and Drug Administration Adverse Event Reporting System(FAERS)for the period from the third quarter of 2011 to the fourth quarter of 2023.The cutaneous ADE associated with 8 eight ADC drugs were identified through the process of specification and standardization of nomenclature.The potential ADE signals were detected using the reporting odds ratio and Bayesian confidence propagation neural network methods.Results A total of 124 234 ADE reports were identified with the 8 ADC drugs as the first suspected drugs,including 5 184 reports of cutaneous ADEs adverse reactions,involving 3 225 patients.A total of 72 preferred term signals were detected for the 8 ADC drugs.The highest number of signals were detected for enfortumab vedotin,followed by ado-trastuzumab emtansine and brentuximab vedotin.Except for detrolizumab,the first-day incidence of cutaneous ADEs associated with the remaining 7 ADC drugs was less than 30%.The median time of occurrence for the 7 drugs,excluding brentuximab vedotin,was within one course of treatment(21 d).Conclusion The risks of cutaneous ADEs was variable with ADC drugs,occurs early in treatment and poses a potential life-threatening danger.Therefore,clinical vigilance and close monitoring of skin conditions are essential during ADC drug use.
5.Exosomes Promote Osteoblastic Differentiation of Adipose-Derived Stem Cells by Activating the Wnt/β-catenin Signaling Pathway
Mengying CUI ; Shu GUO ; Shuang TONG ; Hua ZHANG ; Mengru ZHU ; Yiqing CHEN ; Songqiao WEI
Journal of China Medical University 2019;48(2):114-118
Objective To investigate the relationship between promotion of osteogenic differentiation of adipose-derived stem cells (ADSCs) by exosomes secreted by ADSCs and the Wnt/β-catenin signaling pathway. Methods ADSCs were extracted in the Plastic Surgery Department of the First Hospital Affiliated to China Medical University. Exosomes were extracted from ADSCs induced to differentiate into osteoblasts. The ADSCs were separated into four groups and used for measuring activity of alkaline phosphatase (ALP) by using enzyme-labeled assay, formation of calcium nodes by Alizarin red staining, and expression of β-catenin by Western blotting. Results ADSC-derived exosomes promoted differentiation of ADSCs into osteoblasts by upregulating the expression of β-catenin. Addition of Dickkopf-related protein 1 (DKK1), an inhibitor of Wnt/β-catenin pathway, inhibited expression of β-catenin which in turn resulted in reduced potential of ADSCs for osteogenic differentiation. Conclusion The osteogenic differentiation of ADSCs can be promoted by exosomes derived from ADSCs via the Wnt/β-catenin signaling pathway.
6.The effects and mechanisms of chronic stress on intestinal and liver injuries in rats
Mengyang XU ; Ling LAN ; Cancan GUO ; Mengying LI ; Zhuoran CHEN ; Yuhan LOU ; Yulong CHEN ; Xiuling LI
Chinese Journal of Behavioral Medicine and Brain Science 2021;30(10):873-879
Objective:To investigate the effects and its mechanism of chronic unpredictable stress on intestine and liver injuries in rats, and explore the possibility of the existence of brain-gut-liver axis.Methods:Twenty male SD rats were randomly divided into control group and stress group (with 10 in each group). The rats in the stress group were stimulated by chronic unpredictable stress for 4 weeks to prepare the chronic stress model. The rats in the control group were fed normally without stress stimulation. After modeling, ten rats in the control group and seven rats in the stress group were included. The depressive behavior of the two groups was evaluated by sugar water preference experiment. Then the rats were sacrificed. The diversity of gut flora in intestinal feces was analyzed by 16S rRNA sequencing analysis. The pathological injuries of ileum and liver were detected by HE staining. The expressions of occludin in ileum and Toll-like receptor 4 (TLR4) in liver were detected by immunohistochemistry. The expression of TLR4 protein in liver tissue was detected by Western blot. The level of lipopolysaccharide (LPS) in rat portal vein serum was detected by AZO chromogenic limulus test and blood biochemical method was used to detect liver function.Statistical analysis was performed using SPSS 25.0 software, and t-test or Mann-Whitney U test was used for comparison between the two groups. Using STAMP software, Wilcoxon rank sum test was used to analyze the difference in bacterial abundance between the two groups. Results:The consumption of sugar water ((7.86±0.90)ml) and the preference rate of sugar water ((43.06±5.65)%) in the stress group were lower than those in the control group ((15.10±1.51)ml, (76.81±6.44)%), and the difference were statistically significant ( t=11.33, 11.16, both P<0.01). Chronic stress caused pathological damage to rat ileum tissue. Compared with the control group, the ileum villi of rats in the chronic stress group were longer ((448.93±12.71)μm, (497.12±16.72)μm, t=-5.88, P<0.01) and thicker ((81.99±16.54)μm, (133.93±6.78)μm, t=-7.12, P<0.01), and the expression of occludin was significantly down-regulated ((0.236±0.011), (0.130±0.026), t=9.12 , P<0.01), the LPS level increased significantly ((18.83±2.62)EU/L, (38.64±2.51)EU/L, t=-5.79, P<0.01). The Beta diversity of rat intestinal flora changed under chronic stress, and the abundance of WPS-2 phylum in intestinal tract of rats in stress group was higher than that in control group ( t=2.76, P<0.05). Chronic stress caused pathological damage to the liver tissue of rats. Compared with the control group, the expression of TLR4 protein in the liver tissue of the chronic stress group increased ((0.169±0.014), (0.475±0.034), Z=-2.37, P<0.05). Compared with the control group, the ALT ((39.7±6.2)U/L, (82.9±43.1)U/L, Z=-2.35, P<0.05) and AST((130.9±28.9)U/L, (472.7±263.3)U/L, Z=-2.64, P<0.05) levels of the chronic stress group increased, especially in AST. Conclusion:Chronic stress cause synchronous damage to the intestine and liver in rats. The mechanism may be related to the results caused by chronic stress such as the changes of the diversity of intestinal flora, the increasing of intestinal permeability, the action of LPS translocated through portal vein blood on TLR4 in liver.
7.A cohort study of nutritional metabolic risk factors associated with recurrence in patients with initially diagnosed ulcerative colitis
Milamuguli HAERKEN ; Huan LIU ; Jiejie GUO ; Mengying DAI ; Feng GAO ; Xiaoling HUANG
Chinese Journal of Clinical Nutrition 2022;30(5):257-265
Objective:To investigate the nutritional and metabolic risk factors associated with recurrence in patients with newly diagnosed ulcerative colitis (UC), so as to allow better clinical prediction of recurrence.Methods:A retrospective cohort study was conducted. Patients newly diagnosed with UC (mild and moderate) from the People's Hospital of Xinjiang Uygur Autonomous Region were screened based on prespecified inclusion and exclusion criteria from January 2016 to January 2019. Patients were followed up regularly for three years. Subgroups were determined according to the presence or absence of recurrence. The patients in the UC recurrence group were further stratified according to the time to recurrence into short-term (0-6 months), mid-term (6-12 months) and long-term (12-36 months) recurrence groups. The nutritional and metabolic risk factors related to recurrence were evaluated by univariate analysis and multifactorial logistic regression analysis, and the predictive value was evaluated via receiver operating characteristic curve. The risk factors were then compared across the 3 subgroups with recurrence.Results:A total of 210 patients newly diagnosed with UC (mild and moderate) were included, including 38 experiencing recurrence within 0-6 months, 27 within 6-12 months, 24 within 12-36 months, and 121 without recurrence. There were no statistically significant differences in gender, age, smoking history, and family history in the recurrence group compared with the non-recurrence group. Univariate analysis suggested significant differences in homocysteine, folate, total cholesterol, triglycerides, high-density lipoprotein (HDL), low-density lipoprotein (LDL), apolipoprotein A/B (ApoA/B), 25-hydroxy vitamin D 3, and body mass index (BMI) between recurrence and non-recurrence groups ( P < 0.05). Multifactorial binary logistic regression analysis suggested that homocysteine ( OR = 0.869, 95% CI: 0.782 to 0.965, P = 0.009), triglycerides ( OR = 0.176, 95% CI: 0.060 to 0.519, P = 0.002), LDL ( OR = 0.256, 95% CI: 0.089 to 0.733, P = 0.011), 25-hydroxy vitamin D 3 ( OR = 0.937, 95% CI: 0.895 to 0.0.982, P = 0.006), and BMI ( OR = 1.319, 95% CI: 1.162 to 1.498, P < 0.01) were independent risk factors for UC recurrence. The predictive efficiency of individual risk factors in descending order was as following: LDL (AUC = 0.762, Youden's index [YI] = 0.42, cut-off value = 2.345), triglycerides (AUC = 0.718, YI = 0.361, cut-off value = 1), homocysteine (AUC = 0.666, YI = 0.283, cut-off value = 13.265). There were no statistically significant differences in gender, age, smoking history, and family history across the short-term, mid-term and long-term recurrence groups. There were significant differences in HDL and ApoA/B levels between the short-term and the long-term recurrence groups ( P < 0.05). Conclusions:Recurrence of the disease in UC patients results from the combined effects of multiple factors. The changes in homocysteine, triglycerides, LDL, 25-hydroxy vitamin D 3, and BMI in UC patients should be proactively monitored to prevent recurrence.
8.A case of hyperdivergent and bimaxillary protrusion treated with Clear alingers
Piao XIE ; Tao SHEN ; Mengying GUO ; Qun SHI ; Jian LIU
Journal of Practical Stomatology 2024;40(3):439-442
In this paper,a case of a hyperdivergent and bimaxillary protrusion with individual teeth cross bite in the anterior region treated by invisible orthodontic appliances was reported.At the end of the treatment,the teeth were aligned,the face profile of the patient was im-proved and the overbite and overjet were normal.
9.Associations of short-term ambient particulate matter exposure and MTNR1B gene with triglyceride-glucose index:A family-based study
Huangda GUO ; Hexiang PENG ; Siyue WANG ; Tianjiao HOU ; Yixin LI ; Hanyu ZHANG ; Mengying WANG ; Yiqun WU ; Xueying QIN ; Xun TANG ; Jing LI ; Dafang CHEN ; Yonghua HU ; Tao WU
Journal of Peking University(Health Sciences) 2024;56(3):375-383
Objective:To explore the effects of short-term particulate matter(PM)exposure and the melatonin receptor 1B(MTNR1B)gene on triglyceride-glucose(TyG)index utilizing data from Fang-shan Family-based Ischemic Stroke Study in China(FISSIC).Methods:Probands and their relatives from 9 rural areas in Fangshan District,Beijing,were included in the study.PM data were obtained from fixed monitoring stations of the National Air Pollution Monitoring System.TyG index was calculated by fasting triglyceride and glucose concentrations.The associations of short-term PM exposure and rs10830963 polymorphism of the MTNR1B gene with the TyG index were assessed using mixed linear models,in which covariates such as age,sex,and lifestyles were adjusted for.Gene-environment inter-action analysis was furtherly performed using the maximum likelihood methods to explore the potential effect modifier role of rs10830963 polymorphism in the association of PM with TyG index.Results:A total of 4 395 participants from 2 084 families were included in the study,and the mean age of the study participants was(58.98±8.68)years,with 53.90%females.The results of association analyses showed that for every 10 μg/m3 increase in PM2.5 concentration,TyG index increased by 0.017(95%CI:0.007-0.027),while for per 10 μg/m3 increment in PM1o,TyG index increased by 0.010(95%CI:0.003-0.017).And the associations all had lagged effects.In addition,there was a positive association between the rs10830963 polymorphism and the TyG index.For per increase in risk allele G,TyG index was elevated by 0.040(95%CI:0.004-0.076).The TyG index was 0.079(95%CI:0.005-0.152)higher in carriers of the GG genotype compared with carriers of the CC genotype.The inter-action of rs10830963 polymorphism with PM exposure had not been found to be statistically significant in the present study.Conclusion:Short-term exposure to PM2.5 and PM10 were associated with higher TyG index.The G allele of rs10830963 polymorphism in the MTNR1B gene was associated with the elevated TyG index.
10.Gene-gene/gene-environment interaction of transforming growth factor-β signaling pathway and the risk of non-syndromic oral clefts
Tianjiao HOU ; Zhibo ZHOU ; Zhuqing WANG ; Mengying WANG ; Siyue WANG ; Hexiang PENG ; Huangda GUO ; Yixin LI ; Hanyu ZHANG ; Xueying QIN ; Yiqun WU ; Hongchen ZHENG ; Jing LI ; Tao WU ; Hongping ZHU
Journal of Peking University(Health Sciences) 2024;56(3):384-389
Objective:To explore the association between polymorphisms of transforming growth factor-β(TGF-β)signaling pathway and non-syndromic cleft lip with or without cleft palate(NSCL/P)among Asian populations,while considering gene-gene interaction and gene-environment interaction.Methods:A total of 1 038 Asian NSCL/P case-parent trios were ascertained from an international consortium,which conducted a genome-wide association study using a case-parent trio design to investigate the genes affec-ting risk to NSCL/P.After stringent quality control measures,343 single nucleotide polymorphism(SNP)spanning across 10 pivotal genes in the TGF-β signaling pathway were selected from the original genome-wide association study(GWAS)dataset for further analysis.The transmission disequilibrium test(TDT)was used to test for SNP effects.The conditional Logistic regression models were used to test for gene-gene interaction and gene-environment interaction.Environmental factors collected for the study in-cluded smoking during pregnancy,passive smoking during pregnancy,alcohol intake during pregnancy,and vitamin use during pregnancy.Due to the low rates of exposure to smoking during pregnancy and al-cohol consumption during pregnancy(<3%),only the interaction between maternal smoking during pregnancy and multivitamin supplementation during pregnancy was analyzed.The threshold for statistical significance was rigorously set at P=1.46 × 10-4,applying Bonferroni correction to account for multiple testing.Results:A total of 23 SNPs in 4 genes yielded nominal association with NSCL/P(P<0.05),but none of these associations was statistically significant after Bonferroni's multiple test correction.How-ever,there were 6 pairs of SNPs rs4939874(SMAD2)and rs1864615(TGFBR2),rs2796813(TGFB2)and rs2132298(TGFBR2),rs4147358(SMAD3)and rs1346907(TGFBR2),rs4939874(SMAD2)and rs1019855(TGFBR2),rs4939874(SMAD2)and rs12490466(TGFBR2),rs2009112(TGFB2)and rs4075748(TGFBR2)showed statistically significant SNP-SNP interaction(P<1.46 × 10-4).In contrast,the analysis of gene-environment interactions did not yield any significant results after being cor-rected by multiple testing.Conclusion:The comprehensive evaluation of SNP associations and interac-tions within the TGF-β signaling pathway did not yield any direct associations with NSCL/P risk in Asian populations.However,the significant gene-gene interactions identified suggest that the genetic architec-ture influencing NSCL/P risk may involve interactions between genes within the TGF-β signaling path-way.These findings underscore the necessity for further investigations to unravel these results and further explore the underlying biological mechanisms.