1.Dynamic variations of BMI and influencing factors among HIV/AIDS patients receiving highly active antiretroviral therapy in Liuzhou, Guangxi Zhuang Autonomous Region, 2013-2014.
H H CHEN ; B T FU ; Q Y ZHU ; H X LU ; L H LUO ; L CHEN ; X H LIU ; X J ZHOU ; J H HUANG ; X X FENG ; G S SHAN ; Z Y SHEN
Chinese Journal of Epidemiology 2018;39(4):487-490
<b>Objective:b> To understand the dynamic variation of BMI and influencing factors among HIV/AIDS patients receiving highly active anti-retroviral therapy (HAART) in Liuzhou, Guangxi Zhuang Autonomous Region (Guangxi). <b>Methods:b> HIV/AIDS patients receiving HAART for the first time since 1 January 2013 were selected. Data on BMI was analyzed among patients receiving HAART at baseline,6 months and 12 months after treatment. By using the general linear model repeated measures of analysis of variance, BMI dynamic variations and influencing factors were described and analyzed. <b>Results:b> The average BMI of 2 871 patients at baseline, 6th months and 12th months appeared as (20.65±3.32), (20.87±3.22) and (21.18±3.20), respectively, with differences all statistically significant (F=18.86, P<0.001). BMI were increasing over time with treatments (F=37.25, P<0.001). Main influencing factors were noticed as: age, sex, marital status, baseline data of CD(4)(+)T cells and the WHO classification on clinical stages. <b>Conclusions:b> Higher proportion of BMI malnutrition counts was seen among patients before receiving HAART in Liuzhou. BMI of the patients that were on HAART seemed being influenced by many factors. It is necessary to select appropriate treatment protocols on different patients so as to improve the nutritional status of the patients.
Acquired Immunodeficiency Syndrome
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Antiretroviral Therapy, Highly Active
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Body Mass Index
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CD4 Lymphocyte Count
;
China/epidemiology*
;
HIV Infections/drug therapy*
;
Humans
;
Linear Models
;
Marital Status
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Nutritional Status
;
T-Lymphocytes
2.Association between fatty liver and type 2 diabetes in the baseline population of Jinchang Cohort.
Y B MA ; N CHENG ; Y B LU ; H Y LI ; J S LI ; J DING ; S ZHENG ; Y L NIU ; H Q PU ; X P SHEN ; H D MU ; X B HU ; D S ZHANG ; Y N BAI
Chinese Journal of Epidemiology 2018;39(6):760-764
<b>Objective:b> To explore the association between fatty liver and type 2 diabetes mellitus (T2DM) in the baseline-population of Jinchang cohort study. <b>Methods:b> Data from all the participants involved in the baseline-population of Jinchang cohort study was used, to compare the risks of T2DM in fatty liver and non fatty liver groups and to explore the interaction between family history or fatty liver of diabetes and the prevalence of T2DM. <b>Results:b> Among all the 46 861 participants, 10 574 were diagnosed as having fatty liver (22.56%), with the standardized rate as 20.66%. Another 3 818 participants were diagnosed as having T2DM (8.15%) with standardized rate as 6.90%. The prevalence of T2DM increased in parallel with the increase of age (trend χ(2)=2 833.671, trend P<0.001). The prevalence of T2DM in the fatty liver group was significantly higher than that in the non-fatty liver group, both in men or women and in the overall population. Compared with the group of non-fatty liver, the risks of T2DM in fatty liver group were seen 1.78 times higher in males, 2.33 times in women and 2.10 times in the overall population, after adjustment for factors as age, levels of education, smoking, drinking, physical exercise, BMI, family history of diabetes and some metabolic indicators (pressure, TC, TG, uric acid, ALT, AST, gamma-glutamyl transferase). Date from the interaction model showed that fatty liver and family history of diabetes present a positive additive interaction on T2DM (RERI=1.18, 95%CI: 0.59-1.78; AP=0.24, 95%CI: 0.14-0.34; S=1.43, 95%CI: 1.21-1.69). <b>Conclusions:b> Fatty liver could significantly increase the risk of T2DM and a positive additive interaction was also observed between fatty liver and family history of diabetes on T2DM. It was important to strengthen the prevention program on T2DM, in order to effectively control the development of fatty liver.
China/epidemiology*
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Cohort Studies
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Diabetes Mellitus, Type 2/ethnology*
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Fatty Liver/ethnology*
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Female
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Humans
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Male
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Non-alcoholic Fatty Liver Disease/epidemiology*
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Prevalence
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Risk Factors
3.Mutation characteristics of angioimmunoblastic T-cell lymphoma: an analysis of 75 cases.
X SHEN ; H M YI ; A Q LI ; B S OUYANG ; L DONG ; C F WANG
Chinese Journal of Pathology 2024;53(1):29-33
<b>Objective:b> To investigate the characteristics of gene mutations in angioimmunoblastic T-cell lymphoma (AITL). <b>Methods:b> Seventy-five AITL cases diagnosed at the Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China from June 2021 to June 2023 were included. Their formalin-fixed and paraffin-embedded or fresh tissues were subject to targeted next generation sequencing (NGS). The sequencing data was collected, and the distribution and type of gene mutations were analyzed. <b>Results:b> 492 potential driver mutations were identified in 74 out of the 84 genes. Targeted sequencing data for the 75 AITL patients showed that the genes with mutation frequencies of ≥10% were TET2 (89.3%), RHOA (57.3%), IDH2 (37.3%), DNMT3A (36.0%), KMT2C (21.3%), PLCG1 (12.0%), and KDM6B (10.7%). There were significant co-occurrence relationships between TET2 and RHOA, TET2 and IDH2, and RHOA and IDH2 gene mutations (P<0.05), respectively, while TET2 and KDM6B gene mutations were mutually exclusive (P<0.05). <b>Conclusions:b> The study reveals the mutational characteristics of AITL patients using NGS technology, which would provide insights for molecular diagnosis and targeted therapy of AITL.
Humans
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Lymphoma, T-Cell/pathology*
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China
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Immunoblastic Lymphadenopathy/diagnosis*
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Mutation
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Mutation Rate
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Jumonji Domain-Containing Histone Demethylases/genetics*
4.Association between maternal body height and risk of preterm birth.
H LI ; L L SONG ; L J SHEN ; B Q LIU ; X X ZHENG ; L N ZHANG ; Y Y LI ; W XIA ; B ZHANG ; A F ZHOU ; Y J WANG ; S Q XU
Chinese Journal of Epidemiology 2018;39(3):313-316
<b>Objective:b> To investigate the association between maternal body height and risk of preterm birth. <b>Methods:b> A total of 11 311 pregnant women who gave birth of live singletons were recruited from the Healthy Baby Cohort Study in Hubei province, China from September 2012 to October 2014. Finally 11 070 pregnant women were selected as study subjects. Data were collected by using questionnaires, their prenatal care records and medical records. The women were divided into 4 groups according to the quartiles distribution (<158 cm, 158- cm, 160- cm, and >164 cm). Gestational age was estimated according to maternal last menstrual time. Preterm birth was defined as delivering a live singleton infant at 28-37 weeks' gestational age. Logistic regression was used to calculate the odds ratios (OR) and 95% confidence intervals (CI) for the association between body height and preterm birth. <b>Results:b> Among the 11 070 pregnant women, the incidence of preterm birth was 5.9%. Logistic regression analysis indicated that women in group with body height <158 cm had 46% (OR=1.46, 95%CI: 1.16-1.83) higher risk of giving preterm birth than those in group with body height >164 cm after adjustment for potential confounders. Every 1- cm increase in body height was associated with 3% lower risk of preterm birth (OR=0.97, 95%CI: 0.95-0.99). <b>Conclusion:b> Shorter body height was a risk factor for preterm birth. It is necessary to strengthen the monitoring in pregnant women with short body height to reduce the risk of preterm birth.
Body Height
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China/epidemiology*
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Cohort Studies
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Female
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Gestational Age
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Humans
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Incidence
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Infant, Newborn
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Odds Ratio
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Pregnancy
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Premature Birth/epidemiology*
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Prenatal Care
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Risk Factors
5.Study on genetic structure differences and adjustment strategies in different areas of China.
M ZHU ; J LYU ; C Q YU ; G F JIN ; Y GUO ; Z BIAN ; W ROBIN ; M IONA ; Z M CHEN ; H B SHEN ; Z B HU ; L M LI
Chinese Journal of Epidemiology 2019;40(1):20-25
<b>Objective:b> To describe the genetic structure of populations in different areas of China, and explore the effects of different strategies to control the confounding factors of the genetic structure in cohort studies. <b>Methods:b> By using the genome-wide association study (GWAS) on data of 4 500 samples from 10 areas of the China Kadoorie Biobank (CKB), we performed principal components analysis to extract the first and second principal components of the samples for the component two-dimensional diagram generation, and then compared them with the source of sample area to analyze the characteristics of genetic structure of the samples from different areas of China. Based on the CKB cohort data, a simulation data set with cluster sample characteristics such as genetic structure differences and extensive kinship was generated; and the effects of different analysis strategies including traditional analysis scheme and mixed linear model on the inflation factor (λ) were evaluated. <b>Results:b> There were significant genetic structure differences in different areas of China. Distribution of the principal components of the population genetic structure was basically consistent with the geographical distribution of the project area. The first principal component corresponds to the latitude of different areas, and the second principal component corresponds to the longitude of different areas. The generated simulation data showed high false positive rate (λ=1.16), even if the principal components of the genetic structure was adjusted or the area specific subgroup analysis was performed, λ could not be effectively controlled (λ>1.05); while, by using a mixed linear model adjusting for the kinship matrix, λ was effectively controlled regardless of whether the genetic structure principal component was further adjusted (λ=0.99). <b>Conclusions:b> There were large differences in genetic structure among populations in different areas of China. In molecular epidemiology studies, bias caused by population genetic structure needs to be carefully treated. For large cohort data with complex genetic structure and extensive kinship, it is necessary to use a mixed linear model for association analysis.
China
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Genetic Structures
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Genome-Wide Association Study
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Humans
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Linear Models
;
Principal Component Analysis
6.Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma.
Na QIN ; Yuancheng LI ; Cheng WANG ; Meng ZHU ; Juncheng DAI ; Tongtong HONG ; Demetrius ALBANES ; Stephen LAM ; Adonina TARDON ; Chu CHEN ; Gary GOODMAN ; Stig E BOJESEN ; Maria Teresa LANDI ; Mattias JOHANSSON ; Angela RISCH ; H-Erich WICHMANN ; Heike BICKEBOLLER ; Gadi RENNERT ; Susanne ARNOLD ; Paul BRENNAN ; John K FIELD ; Sanjay SHETE ; Loic LE MARCHAND ; Olle MELANDER ; Hans BRUNNSTROM ; Geoffrey LIU ; Rayjean J HUNG ; Angeline ANDREW ; Lambertus A KIEMENEY ; Shan ZIENOLDDINY ; Kjell GRANKVIST ; Mikael JOHANSSON ; Neil CAPORASO ; Penella WOLL ; Philip LAZARUS ; Matthew B SCHABATH ; Melinda C ALDRICH ; Victoria L STEVENS ; Guangfu JIN ; David C CHRISTIANI ; Zhibin HU ; Christopher I AMOS ; Hongxia MA ; Hongbing SHEN
Frontiers of Medicine 2021;15(2):275-291
Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largely unknown. By integrating a large-scale genotype data of 15 581 lung adenocarcinoma (AD) cases, 8350 squamous cell carcinoma (SqCC) cases, and 27 355 controls, as well as multiple transcriptome and epigenomic databases, we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants. We identified 3064 credible risk variants for NSCLC, which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites. Transcription factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was SqCC-specific. Functional annotation and gene-based analysis implicated 894 target genes, including 274 specifics for AD and 123 for SqCC, which were overrepresented in somatic driver genes (ER = 1.95, P = 0.005). Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways, while SqCC genes were homologous recombination deficiency related. Our results illustrate the molecular basis of both well-studied and new susceptibility loci of NSCLC, providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.
Adenocarcinoma of Lung/genetics*
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Carcinoma, Non-Small-Cell Lung/genetics*
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Carcinoma, Squamous Cell/genetics*
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Genetic Heterogeneity
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Genetic Predisposition to Disease
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Genome-Wide Association Study
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Humans
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Lung Neoplasms/genetics*
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Polymorphism, Single Nucleotide