2.ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population.
Hong WANG ; Jacqueline B HETMANSKI ; Ingo RUCZINSKI ; Kung Yee LIANG ; M Daniele FALLIN ; Richard J REDETT ; Gerald V RAYMOND ; Yah-Huei Wu CHOU ; Philip Kuo-Ting CHEN ; Vincent YEOW ; Samuel S CHONG ; Felicia Sh CHEAH ; Ethylin Wang JABS ; Alan F SCOTT ; Terri H BEATY
Chinese Medical Journal 2012;125(3):476-480
<b>BACKGROUNDb>The receptor tyrosine kinase-like orphan receptor 2 (ROR2) gene has been recently shown to play important roles in palatal development in animal models and resides in the chromosomal region linked to non syndromic cleft lip with or without cleft palate in humans. The aim of this study was to investigate the possible association between ROR2 gene and non-syndromic oral clefts.
<b>METHODSb>Here we tested 38 eligible single-nucleotide polymorphisms (SNPs) in ROR2 gene in 297 non-syndromic cleft lip with or without cleft palate and in 82 non-syndromic cleft palate case parent trios recruited from Asia and Maryland. Family Based Association Test was used to test for deviation from Mendelian inheritance. Plink software was used to test potential parent of origin effect. Possible maternally mediated in utero effects were assessed using the TRIad Multi-Marker approach under an assumption of mating symmetry in the population.
<b>RESULTSb>Significant evidence of linkage and association was shown for 3 SNPs (rs7858435, rs10820914 and rs3905385) among 57 Asian non-syndromic cleft palate trios in Family Based Association Tests. P values for these 3 SNPs equaled to 0.000068, 0.000115 and 0.000464 respectively which were all less than the significance level (0.05/38 = 0.0013) adjusted by strict Bonferroni correction. Relevant odds ratios for the risk allele were 3.42 (1.80 - 6.50), 3.45 (1.75 - 6.67) and 2.94 (1.56 - 5.56), respectively. Statistical evidence of linkage and association was not shown for study groups other than non-syndromic cleft palate. Neither evidence for parent-of-origin nor maternal genotypic effect was shown for any of the ROR2 markers in our analysis for all study groups.
<b>CONCLUSIONb>Our results provided evidence of linkage and association between the ROR2 gene and a gene controlling risk to non-syndromic cleft palate.
Asian Continental Ancestry Group ; genetics ; Cleft Lip ; genetics ; Cleft Palate ; genetics ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Linkage Disequilibrium ; genetics ; Polymorphism, Single Nucleotide ; genetics ; Receptor Tyrosine Kinase-like Orphan Receptors ; genetics
3.Randomized trial of breast self-examination in 266,064 women in Shanghai.
Dao-li GAO ; David B THOMAS ; Roberta M RAY ; Wen-wan WANG ; Charlene J ALLISON ; Fan-liang CHEN ; Peggy PORTER ; Yong-wei HU ; Guan-lin ZHAO ; Lei-da PAN ; Wen-jin LI ; Chun-yuan WU ; Zakia CORIATY ; Ilonka EVANS ; Ming-gang LIN ; Helge STALSBERG ; Steven G SELF
Chinese Journal of Oncology 2005;27(6):350-354
<b>OBJECTIVEb>A randomized trial of breast self-examination (BSE) program was carried out to evaluate whether the intensive BSE can reduce the death number of women from breast cancer.
<b>METHODSb>A total of 266,064 women (age of 30 to 64 years) associated with 519 textile factories in Shanghai had been randomly assigned to a BSE instruction group (132,979 women) or a control group (133,085 women) since 1989. Initial instruction in BSE group included demonstration of proper palpation techniques. It was followed by 2 reinforcement sessions during the subsequent 4 years including video shows, BSE instruction sessions and BSE practice under medical supervision. These activities were continued for 5 years. Attendance at all events was recorded. The cohort was followed through July 2000 for development of breast diseases, and the breast cancer cases were followed up through 2001 for vital status. The data analysis methods used included Kaplan-Meier plots, Log-rank test and Cox modeling.
<b>RESULTSb>Among women under instruction, 864 breast cancers were detected and 133 breast cancer deaths occurred, and 896 breast cancers were detected and 130 deaths recorded in the control group. The tumor size (P = 0.07), TNM stage (P = 0.39) and cumulative breast cancer mortality rate (P = 0.72) were not significantly different between the 2 groups. However, more and smaller fibroadenomas were detected in the instruction group than in the control group (P < 0.01).
<b>CONCLUSIONb>Intensive instruction in BSE can not reduce mortality rate of breast cancer, but more and smaller benign breast lumps can be detected.
Adult ; Breast Neoplasms ; diagnosis ; epidemiology ; prevention & control ; Breast Self-Examination ; China ; epidemiology ; Female ; Humans ; Incidence ; Mass Screening ; Middle Aged
5.Study on prevalence of physical activity in rural residents in four counties (districts) of Shanxi and Chongqing.
Y F ZHAO ; J X MA ; J H LI ; B CHEN ; Y YANG ; H LIANG ; L J WANG ; D B PENG ; M G JIN ; A M WANG ; R M LI ; W H LI ; W J WANG
Chinese Journal of Epidemiology 2018;39(3):302-307
<b>Objective:b> To investigate the prevalence of physical activity and its influencing factors in rural residents in Shanxi and Chongqing. <b>Methods:b> In four counties (districts) of Shanxi and Chongqing, local residents aged ≥18 who lived there for more than one year and had no plan to migrate to other areas in 2 years were surveyed through face to face questionnaire interviews to collect the information about their daily physical activity time, sedentary time, related knowledge and attitude, and others. <b>Results:b> The physical inactivity rate of the residents was 14.9%, and 88.7% of residents never took daily physical activity. The average sedentary time was (3.91±2.06) hours. The results of multivariate analysis showed that education level, per capita monthly income and activity degree were the factors influencing physical inactivity. <b>Conclusion:b> The proportion of people who never took daily physical activity in the survey area was higher than the average level in rural areas in China, so measures should be taken to improve the overall rate of physical activity. For people who have exercise willingness, but have no practice, and those who have already increased their physical activities, targeted guidance is needed on the basis of strengthened health education.
China
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Educational Status
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Exercise
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Health Education
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Humans
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Income
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Motivation
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Motor Activity
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Physicians
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Prevalence
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Rural Population
;
Surveys and Questionnaires
6.Study on the relationship of thallium exposure and outcomes of births.
J QI ; C M LIANG ; S Q YAN ; Z J LI ; J LI ; K HUANG ; H Y XIANG ; Y R TAO ; J H HAO ; S L TONG ; F B TAO
Chinese Journal of Epidemiology 2018;39(8):1112-1116
<b>Objective:b> To investigate the relationship of thallium exposure and outcomes of births. <b>Methods:b> A total of 3 236 mothers who had visited in Ma'anshan Maternal and Child Health-Care Hospital between May 2013 and September 2014 were included in this study and their thallium concentrations measured from samples of maternal and umbilical cord blood by inductively coupled plasma mass spectrometry. The results were correlated and evaluated with birth outcomes of the infants, using the multiple linear regression method. <b>Results:b> The median (P(25)-P(75)) of thallium levels in first trimester, second trimester and umbilical cord blood were 61.7 (50.8-77.0), 60.3 (50.8-75.2) and 38.5 (33.6-44.1) ng/L, respectively. After adjustment for potential confounders, the thallium levels showed an inversely significant association with birth head circumference (unstandardized β coefficient=-0.41, 95%CI: -0.76- -0.06) in the first trimester blood, and associated with reduced birth length (unstandardized β coefficient=-0.65, 95%CI: -1.25- -0.05) in umbilical cord blood. However, there appeared no significantly associations with birth weight, length and head circumference (P>0.05) in second trimester. On stratification by sex, in girls but not in boys, the thallium levels were adversely associated with birth head circumference (unstandardized β coefficient=-0.53, 95%CI: -1.05--0.01) in the first trimester and were associated with decreased birth weight (unstandardized β coefficient=-277.08, 95%CI: -485.13- -69.03) and length (unstandardized β coefficient=-1.39, 95%CI: -2.26- -0.53) in umbilical cord blood thallium. <b>Conclusions:b> Thallium exposure appeared a gender difference in newborn birth outcomes. In the first trimester, it was negatively associated with the birth head circumference, in the umbilical cord blood, and reduced birth weight and length in girls.
Adult
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Birth Weight
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Environmental Pollutants/blood*
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Female
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Fetal Blood/metabolism*
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Fetus/metabolism*
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Humans
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Infant, Newborn
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Male
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Maternal Exposure
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Parturition
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Pregnancy
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Pregnancy Outcome/epidemiology*
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Thallium/blood*
7.Values of ATX in predicting disease progression in patients with PBC and PBC related HCC.
M Y ZHANG ; H XIE ; J ZHAO ; Q S LIANG ; L HAN ; X R ZHAI ; B S LI ; Z S ZOU ; Y SUN
Chinese Journal of Hepatology 2023;31(6):40-46
Objective:b> To clarify the values of autotaxin (ATX) in patients with primary biliary cholangitis (PBC) and PBC-related hepatocellular carcinoma (HCC). Methods:b> 179 patients with PBC were selected from prospective cohorts of autoimmune liver diseases at the time of first diagnosis of PBC in Department of Hepatology, the Fifth Medical Center of PLA General Hospital, from January 2016 to January 2018, all patients with PBC received UDCA therapy, primary endpoint was event of HCC, the follow-up period was censored at the date of HCC. The relationship between level of ATX and clinical features in patients with PBC and its potential value in predicting disease progression and PBC-related HCC were analyzed. Results:b> The ATX level in the peripheral blood of patients with PBC was significantly higher than that of alcoholic liver cirrhosis(ALC) (t = 3.278, P = 0.001) and healthy controls(HC) (t = 6.594, P < 0.001), however, when comparing PBC to non-PBC related HCC, no significant difference was found between the groups(t=-0.240, P = 0.811). Consistent with peripheral blood levels, histochemical staining indicated that ATX in the liver of patients with PBC was significantly higher than that of HC (Z=-3.633, P < 0.001) and ALC (Z=-3.283, P < 0.001), and the expression of ATX in PBC with advanced histological stage was significantly higher than PBC with early stage (Z=-2.018, P = 0.034). The baseline ATX level in PBC patients without developing to HCC during follow-up had significant difference to patients with developing to HCC (228.451 ± 124.093 ng/ml vs 301.583 ± 100.512 ng/ml, t = 2.339, P = 0.021). The result in multivariate logistic regression analysis showed that ATX were independent predictors of PBC related HCC(OR 1.245, 95%CI 1.097-1.413). The optimal critical value of peripheral blood ATX level at baseline for predicting HCC was 235.254 ng/ml, with the cut-off value of 0.714 in AUC of the ROC (95% CI was 0.597~ 0.857), sensitivity and specificity were 84.6% and 59.0%, respectively. Conclusion:b> ATX level was significantly higher in PBC patients over controls, and it's concentration was correlated with UDCA efficacy and fibrosis stage. ATX has potential values in predicting disease progression and PBC-related HCC.
8.Mosquitoes, midges and related arboviruses in southeast Sichuan province.
S SONG ; S H FU ; X X ZHOU ; J K ZHANG ; W LI ; L J LIU ; J S LI ; J WANG ; Y LIN ; X L LI ; Y HE ; W W LEI ; H Y WANG ; B WANG ; X Q LU ; G D LIANG
Chinese Journal of Epidemiology 2018;39(10):1381-1386
<b>Objective:b> To investigate the distribution patterns of mosquitoes, midges and related arboviruses in Sichuan province. <b>Methods:b> Blood-sucking insects were collected from houses and pens, using the ultraviolet lights. Mosquito samples were classified according to morphologic characteristics and then stored at liquid nitrogen. All samples were incubated with BHK-21 and C6/36 cells for virus isolation and then detected for their viral genes. Sequences of the virus were identified and analyzed by molecular biological software, such as BioEdit 7.0.5.3, MEGA 6.0. <b>Results:b> In total, 17 019 mosquitoes from 3 genera and 4 species and 12 700 midges were collected from the southeast regions of Sichuan province in 2016 and 2017. Among them, 79.4% (13 519/17 019) belonged to Culex tritaeniorhynchus with 11.1% (1 897/17 019) as Armigeres subalbatus, 5.5% (930/17 019) were Anopheles sinensis and 4.0% (673/17 019) were Anopheles sinensis 3 virus strains that isolated from Culex tritaeniorhynchus were identified as typeⅠ Japanese encephalitis virus. Seven pools of mosquitoes isolated from Hejiang county were identified Japanese encephalitis virus gene positive through PCR amplification. With 4 pool midges were detected positive for Akabane virus through PCR gene amplification while midges samples didn't have virus isolates. <b>Conclusions:b> Culex tritaeniorhynchus appeared the predominant species in the southeast regions of Sichuan. Japanese encephalitis virus transmitted by mosquitoes and Akabane virus by midges were prevalent in southeast Sichuan province.
Animals
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Arboviruses
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Culicidae
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Encephalitis Virus, Japanese/isolation & purification*
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Encephalitis, Japanese/diagnosis*
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Genes, Viral
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Nucleic Acid Amplification Techniques
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Phylogeny
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Polymerase Chain Reaction
9.DPHL:A DIA Pan-human Protein Mass Spectrometry Library for Robust Biomarker Discovery
Zhu TIANSHENG ; Zhu YI ; Xuan YUE ; Gao HUANHUAN ; Cai XUE ; Piersma R. SANDER ; Pham V. THANG ; Schelfhorst TIM ; Haas R.G.D. RICHARD ; Bijnsdorp V. IRENE ; Sun RUI ; Yue LIANG ; Ruan GUAN ; Zhang QIUSHI ; Hu MO ; Zhou YUE ; Winan J. Van Houdt ; Tessa Y.S. Le Large ; Cloos JACQUELINE ; Wojtuszkiewicz ANNA ; Koppers-Lalic DANIJELA ; B(o)ttger FRANZISKA ; Scheepbouwer CHANTAL ; Brakenhoff H. RUUD ; Geert J.L.H. van Leenders ; Ijzermans N.M. JAN ; Martens W.M. JOHN ; Steenbergen D.M. RENSKE ; Grieken C. NICOLE ; Selvarajan SATHIYAMOORTHY ; Mantoo SANGEETA ; Lee S. SZE ; Yeow J.Y. SERENE ; Alkaff M.F. SYED ; Xiang NAN ; Sun YAOTING ; Yi XIAO ; Dai SHAOZHENG ; Liu WEI ; Lu TIAN ; Wu ZHICHENG ; Liang XIAO ; Wang MAN ; Shao YINGKUAN ; Zheng XI ; Xu KAILUN ; Yang QIN ; Meng YIFAN ; Lu CONG ; Zhu JIANG ; Zheng JIN'E ; Wang BO ; Lou SAI ; Dai YIBEI ; Xu CHAO ; Yu CHENHUAN ; Ying HUAZHONG ; Lim K. TONY ; Wu JIANMIN ; Gao XIAOFEI ; Luan ZHONGZHI ; Teng XIAODONG ; Wu PENG ; Huang SHI'ANG ; Tao ZHIHUA ; Iyer G. NARAYANAN ; Zhou SHUIGENG ; Shao WENGUANG ; Lam HENRY ; Ma DING ; Ji JIAFU ; Kon L. OI ; Zheng SHU ; Aebersold RUEDI ; Jimenez R. CONNIE ; Guo TIANNAN
Genomics, Proteomics & Bioinformatics 2020;18(2):104-119
To address the increasing need for detecting and validating protein biomarkers in clinical specimens, mass spectrometry (MS)-based targeted proteomic techniques, including the selected reaction monitoring (SRM), parallel reaction monitoring (PRM), and massively parallel data-independent acquisition (DIA), have been developed. For optimal performance, they require the fragment ion spectra of targeted peptides as prior knowledge. In this report, we describe a MS pipe-line and spectral resource to support targeted proteomics studies for human tissue samples. To build the spectral resource, we integrated common open-source MS computational tools to assemble a freely accessible computational workflow based on Docker. We then applied the workflow to gen-erate DPHL, a comprehensive DIA pan-human library, from 1096 data-dependent acquisition (DDA) MS raw files for 16 types of cancer samples. This extensive spectral resource was then applied to a proteomic study of 17 prostate cancer (PCa) patients. Thereafter, PRM validation was applied to a larger study of 57 PCa patients and the differential expression of three proteins in prostate tumor was validated. As a second application, the DPHL spectral resource was applied to a study consisting of plasma samples from 19 diffuse large B cell lymphoma (DLBCL) patients and 18 healthy control subjects. Differentially expressed proteins between DLBCL patients and healthy control subjects were detected by DIA-MS and confirmed by PRM. These data demonstrate that the DPHL supports DIA and PRM MS pipelines for robust protein biomarker discovery. DPHL is freely accessible at https://www.iprox.org/page/project.html?id=IPX0001400000.