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Numerous guidelines have called for personalized interventions to address childhood obesity. The role of fat mass and obesity-associated gene (FTO) in the risk of childhood obesity has been summarized. However, it remains unclear whether FTO could influence individual responses to obesity interventions, especially in children. To address this, we systematically reviewed 12,255 records across 10 databases/registers and included 13 lifestyle-based obesity interventions (3980 children with overweight/obesity) reporting changes in body mass index (BMI) Z-score, BMI, waist circumference, waist-to-hip ratio, and body fat percentage after interventions. These obesity-related outcomes were first compared between children carrying different FTO genotypes (rs9939609 or its proxy) and then synthesized by random-effect meta-analysis models. The results from single-group interventions showed no evidence of associations between FTO risk allele and changes in obesity-related outcomes after interventions (e.g., BMI Z-score: -0.01; 95% CI: -0.04, 0.01). The results from controlled trials showed that associations between the FTO risk allele and changes in obesity-related outcomes did not differ by intervention/control group. To conclude, the FTO risk allele might play a minor role in the response to obesity interventions among children. Future studies might pay more attention to the accumulation effect of multiple genes in the intervention process among children.
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Obesidad Infantil , Niño , Humanos , Índice de Masa Corporal , Predisposición Genética a la Enfermedad , Genotipo , Obesidad Infantil/genética , Obesidad Infantil/prevención & control , Pérdida de PesoRESUMEN
In recent years, the real-world studies (RWS) have attracted extensive attention, and the real-world evidence (RWE) has been accepted to support the drug development in China and abroad. However, there is still a lack of standards for the evaluation of the quality of RWE. It is necessary to formulate a quality evaluation and reporting specification for RWE especially in traditional Chinese medicine (TCM). To this end, under the guidance of China Association of Chinese Medicine, the Quality Evaluation and Reporting Specification for Real-World Evidence of Traditional Chinese Medicine (QUERST) Group, including 24 experts (clinical epidemiologists, clinicians, pharmacologists, ethical reviewer and statisticians), was established to develop the specification. This specification contains the listing of classification of RWS design and RWE, the general principles and methods of RWE quality evaluation (26 tools or scales), 25 types of bias in RWS, the special considerations in evaluating the quality of RWE of TCM, and the 19 reporting standards of RWE. This specification aims to propose the quality evaluation principles and key points of RWE, and provide guidance for the proper use of RWE in the development of TCM new drugs.
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Medicina Tradicional China , ChinaRESUMEN
BACKGROUND AND AIM: Short sleep duration is a risk factor of cardiovascular disorder; however, the association between short sleep duration and carotid atherosclerosis has not been completely characterised. The aim of this study is to investigate the association between short sleep duration and carotid atherosclerosis. METHODS: We used the cross-sectional data collected between May 2014 and July 2014, which were based on a cardiovascular disease cohort study including 3798 participants aged 40 years and older who are residents of Beijing, China. We used logistic regression models to examine the associations between sleep duration and carotid atherosclerosis. RESULTS: After the adjustment of covariates, short sleep duration (less than 5 hours per night) was found to be associated with carotid atherosclerosis, and it also elevated the risk of, in both terms, the increment of prevalence (OR=1.31, P<0.05) and the quantity of carotid plaques (OR=1.28, P<0.05). When age was also taken into consideration, the largest association, in both terms of prevalence (OR=3.46, P<0.01) and the number of carotid plaques (OR=4.23, P<0.01), was found in subjects over the age of 60 with short sleep duration. CONCLUSION: In conclusion, sleep duration less than 5 hours per night is associated with a higher risk of carotid atherosclerosis compared with subjects who sleeps for 5 or over 5 hours per night, and the association may be modified by age.
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Arterias Carótidas/patología , Enfermedades de las Arterias Carótidas/epidemiología , Privación de Sueño/epidemiología , Adulto , Anciano , Enfermedades de las Arterias Carótidas/fisiopatología , China , Estudios de Cohortes , Comorbilidad , Estudios Transversales , Femenino , Estado de Salud , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , Privación de Sueño/fisiopatología , Encuestas y CuestionariosRESUMEN
AIMS/INTRODUCTION: To investigate the relationship between various glucose metabolic status and arterial stiffness, and further explore the threshold of blood glucose indices for the risk of arterial stiffness. MATERIALS AND METHODS: The present cross-sectional study included 4,851 individuals from a Chinese community. Overnight fasting blood glucose and 2-h post-load glucose were sampled. Arterial stiffness was measured as brachial-ankle pulse wave velocity. The association was examined using generalized linear regression models. The threshold effect was explored using two piecewise linear regression models by the smoothing plot. RESULTS: After adjustment for covariates, isolated impaired fasting glucose, isolated impaired glucose tolerance, combined glucose intolerance and newly diagnosed diabetes mellitus were associated with a greater risk of arterial stiffness compared with normal glucose tolerance (B = 18.09, 95% confidence interval [CI] 0.42-35.76, P = 0.045; B = 28.51, 95% CI: 3.40-53.62, P = 0.026; B = 60.70, 95% CI: 38.37-83.04, P < 0.001; B = 95.06, 95% CI: 71.88-118.25, P < 0.001, respectively). Furthermore, there was a non-linear relationship between 2-h post-load glucose and arterial stiffness. A threshold for 2-h post-load glucose of 6.14 mmol/L was observed for the risk of arterial stiffness. CONCLUSIONS: Impaired fasting glucose, impaired glucose tolerance, combined glucose intolerance and newly diagnosed diabetes mellitus were related to a greater risk of arterial stiffness compared with normal glucose levels. A threshold for 2-h post-load glucose of 6.14 mmol/L probably exists for the risk of arterial stiffness.
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OBJECTIVE: To understand the relationships between CDH13 (T-cadherin) genetic polymorphisms, adiponectin levels and ischemic stroke, and possible interactions between CDH13 polymorphisms and other risk factors. METHODS: We recruited 342 Chinese ischemic stroke sib pairs. We genotyped rs4783244 and rs7193788 on CDH13 using time-of-flight mass spectrometry genotyping technology and measured total and high-molecular weight (HMW) adiponectin levels. We investigated associations between SNPs and ischemic stroke, and interactions between SNPs and other risk factors using multi-level mixed-effects regression model. RESULTS: In individuals without ischemic stroke, CDH13 rs4783244 was associated with total adiponectin levels (per T: Coef = -0.257, P = 0.001). CDH13 rs7193788 was associated with total adiponectin levels (per A: Coef = -0.221, P = 0.001) and HMW adiponectin levels (per A: Coef = -0.163, P = 0.003). rs7193788 was significantly associated with ischemic stroke (GA/AA vs. GG: OR = 1.55, 95% CI: 1.07 to 2.24, P = 0.020) after Bonferroni correction (α = 0.025). There was an interaction between rs7193788 and diabetes (P = 0.036). Compared to diabetes-free individuals with rs7193788 GG genotype, diabetes patients with rs7193788 GA/AA genotypes had higher risks for ischemic stroke (OR = 2.64, 95% CI: 1.58-4.40, P < 0.001). CONCLUSION: CDH13 genetic polymorphisms are associated with adiponectin levels and ischemic stroke. An interaction is found between CDH13 SNP and diabetes for ischemic stroke.
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Adiponectina/sangre , Isquemia Encefálica/genética , Cadherinas/genética , Accidente Cerebrovascular/genética , Anciano , Isquemia Encefálica/sangre , China , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Factores de Riesgo , Accidente Cerebrovascular/sangreRESUMEN
INTRODUCTION: Little has been reported about the demographic and clinical features of major depressive disorder (MDD) with comorbid dysthymia in Chinese patients. This study examined the frequency of comorbid dysthymia in Chinese MDD patients together with the demographic and clinical correlates and prescribing patterns of psychotropic drugs. METHODS: Consecutively collected sample of 1178 patients with MDD were examined in 13 major psychiatric hospitals in China. Patients' demographic and clinical characteristics and psychotropic drugs prescriptions were recorded using a standardized protocol and data collection procedure. The diagnosis of dysthymia was established using the Mini International Neuropsychiatric Interview. Medications ascertained included antidepressants, antipsychotics, benzodiazepines, and mood stabilizers. RESULTS: One hundred and three (8.7%) patients fulfilled criteria for dysthymia. In multiple logistic regression analyses, compared to non-dysthymia counterparts, MDD patients with dysthymia had more depressive episodes with atypical features including increased appetite, sleep, and weight gain, more frequent lifetime depressive episodes, and less likelihood of family history of psychiatric disorders. There was no significant difference in the pattern of psychotropic prescription between the 2 groups. CONCLUSIONS: There are important differences in the demographic and clinical features of comorbid dysthymia in Chinese MDD patients compared with previous reports. The clinical profile found in this study has implications for treatment decisions.
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Antidepresivos/uso terapéutico , Antipsicóticos/uso terapéutico , Trastorno Depresivo Mayor/tratamiento farmacológico , Trastorno Distímico/tratamiento farmacológico , Adulto , China , Trastorno Depresivo Mayor/complicaciones , Trastorno Distímico/complicaciones , Femenino , Encuestas de Atención de la Salud , Humanos , Masculino , Persona de Mediana Edad , Pautas de la Práctica en MedicinaRESUMEN
AIM: To investigate the associiations between the polymorphisms of cell cycle pathway genes and the risk of hepatocellular carcinoma (HCC). METHODS: We enrolled 1127 cases newly diagnosed with HCC from the Tumor Hospital of Guangxi Medical University and 1200 non-tumor patients from the First Affiliated Hospital of Guangxi Medical University. General demographic characteristics, behavioral information, and hematological indices were collected by unified questionnaires. Genomic DNA was isolated from peripheral venous blood using Phenol-Chloroform. The genotyping was performed using the Sequenom MassARRAY iPLEX genotyping method. The association between genetic polymorphisms and risk of HCC was shown by P-value and the odd ratio (OR) with 95% confidence interval (CI) using the unconditional logistic regression after adjusting for age, sex, nationality, smoking, drinking, family history of HCC, and hepatitis B virus (HBV) infection. Moreover, stratified analysis was conducted on the basis of the status of HBV infection, smoking, and alcohol drinking. RESULTS: The HCC risk was lower in patients with the MCM4 rs2305952 CC (OR = 0.22, 95%CI: 0.08-0.63, P = 0.01) and with the CHEK1 rs515255 TC, TT, TC/TT (OR = 0.73, 95%CI: 0.56-0.96, P = 0.02; OR = 0.67, 95%CI: 0.46-0.97, P = 0.04; OR = 0.72, 95%CI: 0.56-0.92, P = 0.01, respectively). Conversely, the HCC risk was higher in patients with the KAT2B rs17006625 GG (OR = 1.64, 95%CI: 1.01-2.64, P = 0.04). In addition, the risk was markedly lower for those who were carriers of MCM4 rs2305952 CC and were also HBsAg-positive and non-drinking and non-smoking (P < 0.05, respectively) and for those who were carriers of CHEK1 rs515255 TC, TT, TC/TT and were also HBsAg-negative and non-drinking (P < 0.05, respectively). Moreover, the risk was higher for those who were carriers of KAT2B rs17006625 GG and were also HBsAg-negative (P < 0.05). CONCLUSION: Of 12 cell cycle pathway genes, MCM4, CHEK1 and KAT2B polymorphisms may be associated with the risk of HCC.
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Carcinoma Hepatocelular/genética , Ciclo Celular/genética , Neoplasias Hepáticas/genética , Proteínas 14-3-3/genética , Adulto , Consumo de Bebidas Alcohólicas/epidemiología , Carcinoma Hepatocelular/epidemiología , Proteínas de Ciclo Celular , Quinasa 1 Reguladora del Ciclo Celular (Checkpoint 1)/genética , China/epidemiología , Inhibidor p16 de la Quinasa Dependiente de Ciclina , Inhibidor p18 de las Quinasas Dependientes de la Ciclina/genética , Inhibidor p21 de las Quinasas Dependientes de la Ciclina/genética , Proteínas de Unión al ADN , Femenino , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad , Hepatitis B Crónica/epidemiología , Humanos , Neoplasias Hepáticas/epidemiología , Masculino , Persona de Mediana Edad , Componente 4 del Complejo de Mantenimiento de Minicromosoma/genética , Componente 7 del Complejo de Mantenimiento de Minicromosoma/genética , Proteínas Nucleares/genética , Fosfoproteínas/genética , Polimorfismo Genético , Proteína p130 Similar a la del Retinoblastoma/genética , Proteína smad3/genética , Fumar/epidemiología , Factor de Crecimiento Transformador beta3/genética , Fosfatasas cdc25/genética , Factores de Transcripción p300-CBP/genéticaRESUMEN
OBJECTIVE: To analyze the sociodemographic and clinical factors related to anxiety in patients with major depressive disorder (MDD). METHODS: This study involved a secondary analysis of data obtained from the Diagnostic Assessment Service for People with Bipolar Disorders in China (DASP), which was initiated by the Chinese Society of Psychiatry (CSP) and conducted from September 1, 2010 to February 28, 2011. Based on the presence or absence of anxiety-related characteristics, 1,178 MDD patients were classified as suffering from anxious depression (n=915) or non-anxious depression (n=263), respectively. RESULTS: Compared with the non-anxious group, the anxious-depression group had an older age at onset (t=-4.39, p<0.001), were older (t=-4.69, pï¼0.001), reported more lifetime depressive episodes (z=-3.24, p=0.001), were more likely to experience seasonal depressive episodes (χ(2)=6.896, p=0.009) and depressive episodes following stressful life events (χ2=59.350, p <0.001), and were more likely to have a family history of psychiatric disorders (χ(2)=6.091, p=0.014). Their positive and total scores on the Mood Disorder Questionnaire (MDQ) and the 32-item Hypomania Checklist (HCL-32) (p<0.05) were also lower. The logistic regression analysis indicated that age (odds ratio [OR]=1.03, p<0.001), a lower total MDQ score (OR=0.94, p=0.011), depressive episodes following stressful life events (OR=3.04, p<0.001), and seasonal depressive episodes (OR=1.75, p=0.039) were significantly associated with anxious depression. CONCLUSION: These findings indicate that older age, fewer subclinical bipolar features, an increased number of depressive episodes following stressful life events, and seasonal depressive episodes may be risk factors for anxiety-related characteristics in patients with MDD.
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BACKGROUND: Although coronary heart disease (CHD) is one of the major cardiovascular diseases, risk factors associated with the health-related quality of life (HRQoL) of CHD patients remain unclear. The present study was designed to determine the profile and significant factors of the HRQoL in CHD patients. METHODS: A cross-sectional study was conducted in rural communities of Fangshan District, Beijing, China. Socio-demographic, lifestyle, and comorbidity information of CHD patients were collected by a structured questionnaire and medical records. HRQoL was measured using European Quality of Life 5-dimensions (EQ-5D) scale and EQ Visual Analog Scale (EQ-VAS). Multiple linear and logistic regressions were performed to explore the association of potential risk factors with HRQoL scores and each EQ-5D, respectively. RESULTS: Totally, 1928 CHD patients (mean age 61.64 ± 9.24 years; female:male = 2.4:1) were enrolled in the study. The mean score of EQ-5D index and EQ-VAS were 0.889 ± 0.172 and 71.56 ± 17.65, respectively. Multiple linear regression revealed that marital status, physical activity, moderate alcohol drinking, and family's population were positive independent correlates of EQ-VAS, whereas diabetes mellitus and stroke were negative independent correlates (all P < 0.05). Age and stroke were negatively while physical activity, moderate alcohol drinking, family's population and household income were positively correlated with EQ-5D index (all P < 0.05) independently. In addition, each of the five HRQoL dimensions had various specific determinants, including obesity, underweight, smoking or education. CONCLUSIONS: Findings of the study highlight certain socio-demographic, lifestyle factors, and comorbid stroke or diabetes mellitus as correlates of HRQoL in Chinese CHD patients. Large-scale cohort studies should be carried out to confirm our results in the future.
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Enfermedad Coronaria/epidemiología , Anciano , Anciano de 80 o más Años , China/epidemiología , Estudios Transversales , Femenino , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad , Calidad de Vida , Factores de Riesgo , Factores SocioeconómicosRESUMEN
OBJECTIVE: To explore the correlation between glycemic control of type 2 diabetes mellitus (T2DM) patients and brachial-ankle pulse velocity (baPWV). METHODS: A community-based cross-sectional study was conducted in Beijing, China. Every subject underwent physical examinations, glycated hemoglobin (HbA1c), blood lipid and baPWV measurements and completed a standardized questionnaire. T2DM patients were divided into well controlled and poorly controlled groups according to HbA1c levels. The correlation between glycemic control of T2DM patients and baPWV was analyzed. RESULTS: In this study, 1 341 subjects were recruited, including 733 T2DM patients and 608 non-diabetes subjects. Compared with non-diabetes subjects, abnormal baPWV (baPWV≥1 700 cm/s) rate for T2DM patients was higher (40.8% vs. 26.8%, P<0.001). With HbA1c<6.5% or <7.0% as the aim of glycemic control in T2DM patients, the abnormal baPWV rates for non-diabetes subjects, well controlled and poorly controlled T2DM patients were significantly different (non-diabetes vs. HbA1c<6.5% T2DM vs. HbA1c≥6.5% T2DM: 26.8% vs. 32.8% vs. 42.6%, P<0.001; non-diabetes vs. HbA1c<7.0% T2DM vs. HbA1c≥7.0% T2DM: 26.8% vs. 36.1% vs. 43.4%, P<0.001). After being adjusted for gender, age, smoking status, diabetes mellitus family history, T2DM duration, cardiovascular diseases (CVD), waist hip ratio (WHR), systolic blood pressure (SBP), diastolic blood pressure (DBP), total triglycerides (TG), high density lipoprotein cholesterol (HDL-C), and low density lipoprotein cholesterol (LDL-C), the Logistic regression models suggested that glycemic control status of T2DM patients was associated with abnormal baPWV. Compared with non-diabetes subjects, the ORs for abnormal baPWV in HbA1c<6.5% T2DM patients and HbA1c≥6.5% T2DM patients were 0.927(95%CI 0.560-1.537) and 1.826 (95%CI 1.287-2.591). Compared with non-diabetes subjects, the ORs for abnormal baPWV in HbA1c<7.0% T2DM patients and HbA1c≥7.0% T2DM patients were 1.210 (95%CI 0.808-1.811) and 1.898 (95%CI 1.313-2.745). CONCLUSION: The glycemic control status of T2DM patients from communities is significantly associated with baPWV. Poor glycemic control is a risk factor for abnormal baPWV. Keeping HbA1c under control might lower the risk of cardiovascular diseases in T2DM patients.
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Índice Tobillo Braquial , Velocidad del Flujo Sanguíneo , Glucemia/análisis , Diabetes Mellitus Tipo 2/sangre , Presión Sanguínea , Enfermedades Cardiovasculares , Estudios de Casos y Controles , China , HDL-Colesterol/sangre , LDL-Colesterol/sangre , Estudios Transversales , Hemoglobina Glucada/química , Humanos , Flujo Pulsátil , Análisis de la Onda del Pulso , Factores de Riesgo , Triglicéridos/sangre , Relación Cintura-CaderaRESUMEN
BACKGROUND: Myocardial infarction (MI) is a serious complication of Coronary Artery Disease (CAD). Previous studies have identified genetic variants on chromosome 9p21 and 6p24 that are associated with CAD, but further studies need to be conducted to investigate whether these genetic variants are associated with the pathogenesis of MI. We therefore performed this study to assess the association between the risk of MI and SNP rs10757274 on chromosome 9p21 and SNP rs6903956 on chromosome 6p24, and to explore the gene-environment interactions in a Chinese population. METHODS: A hospital-based case-control study, consisting of 502 MI patients and 308 controls, was conducted in a Chinese population. Demographic, behavioral information and clinical characteristics were collected, and genotyping of the two SNPs was performed using single base primer extension genotyping technology. The unconditional logistic regression (ULR) method was adopted to assess the association of the two SNPs with MI risk. Both generalized multifactor dimensionality reduction (GMDR) and ULR methods were applied to explore the effect of gene-environment interactions on the risk of MI. RESULTS: After adjusting for covariates, it was observed that SNP rs10757274 on chromosome 9p21 was significantly associated with MI. Compared with subjects carrying the AA genotype, subjects carrying the GA or GG genotypes had a higher MI risk (ORa = 1.52, 95% CI:1.06-2.19, pa = 0.0227; ORa = 2.40, 95% CI:1.51-3.81, pa = 0.0002, respectively). Furthermore, a two-factor gene-environment interaction model of CDKN2A/B (rs10757274) and type 2 diabetes mellitus (T2DM) was identified to be the best model by GMDR (p = 0.0107), with a maximum prediction accuracy of 59.18%, and a maximum Cross-validation Consistency of 10/10. By using the ULR method, additive interaction analysis found that the combined effect resulted in T2DM-positive subjects with genotype GG/GA having an MI risk 4.38 times that of T2DM-negative subjects with genotype AA (ORadd = 4.38, 95% CI:2.56-7.47, padd < 0.0001). CONCLUSIONS: These results show that gene polymorphism of CDKN2A/B (rs10757274) is associated with MI risk in a Chinese population. Furthermore, T2DM is likely to have an interaction with CDKN2A/B (rs10757274) that contributes to the risk of MI.
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Pueblo Asiatico/genética , Cromosomas Humanos Par 9 , Diabetes Mellitus Tipo 2/etnología , Interacción Gen-Ambiente , Infarto del Miocardio/etnología , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , China/epidemiología , Inhibidor p15 de las Quinasas Dependientes de la Ciclina/genética , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Modelos Logísticos , Oportunidad Relativa , Medición de Riesgo , Factores de RiesgoRESUMEN
BACKGROUND: Numerous genetic risk factors of ischemic stroke (IS) have been reported from both candidate gene and genome-wide strategies with inconsistent results. The objective of this study was to confirm the relationship between 10 previously identified single-nucleotide polymorphisms (SNPs) and IS in the Chinese population. METHODS: A family-based study was conducted in a rural area of Beijing, with a total of 227 IS families with 622 participants recruited. Both linkage and association analyses were performed, with all the sibling pairs derived from the 227 families analyzed using the sib-pair test of model-free linkage to assess linkage between SNPs and IS, with association analyses including a family-based association test (FBAT) and generalized estimating equations (GEE). RESULTS: Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the interleukin-6 (IL-6) gene is significantly linked to the small arterial occlusion (SAO) subtype (p=0.022), while the rs7193343 polymorphism in the ZFHX3 gene is linked to IS (p=0.002) under the dominant model. Significant allelic associations were identified between the G allele of rs1800796 and IS (p=0.042) and the SAO subtype (p=0.025) in the FBAT. The GEE method revealed that the G allele of rs1800796 increased IS risk by 1.55-fold (95% 95% confidence interval [CI]: 1.01, 2.37; p=0.043) and 2.43-fold (95% CI: 1.32, 4.45; p=0.004) in the SAO subtype in the dominant model, which correlated with the significant associations detected in the FBAT. CONCLUSIONS: In this study, we confirmed that the SNP of rs1800796 in the IL-6 gene is related to IS and the SAO subtype using different statistical approaches. These findings could contribute to identifying individuals with a high IS risk.
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Isquemia Encefálica/genética , Familia , Ligamiento Genético , Interleucina-6/genética , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/genética , Adulto , Alelos , Pueblo Asiatico , China , Femenino , Humanos , Masculino , Factores de RiesgoRESUMEN
BACKGROUND: Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation. Some patients may show progeroid features. MADA with partial lipodystrophy, more marked acral, can be caused by homozygous or compound heterozygous mutation in the gene encoding lamin A and lamin C (LMNA). MADA and Hutchinson-Gilford progeria syndrome are caused by the same gene and may represent a single disorder with varying degrees of severity. MAD patients characterized by generalized lipodystrophy (type B) affecting the face as well as extremities and severe progressive glomerulopathy present heterozygous compound mutations in the ZMPSTE24 gene. CASES PRESENTATIONS: We described a rare pedigree from Southern China, among them all three children presented with phenotypes of MADA associated progeria. The two elder sisters had developed severe mandibular hypoplasia associated progeria since the age of 1 year. The eldest sister showed a progressive osteolysis. The youngest son of 10 months showed severer lesions than those of his sisters at the same age, and presented possible muscle damage, and his symptoms progressed gradually. Three genes mutations including LMNA, ZMPSTE24 and BANF1 were tested in the family. LMNA gene sequencing revealed a homozygous missense mutation, c.1579C > T, p.R527C for all three siblings, and heterozygous mutations for their parents, whereas no mutations of ZMPSTE24 and BANF1 genes was detected among them. CONCLUSIONS: The same homozygous mutation of c.1579C > T of LMNA gene led to MADA associated progeria for the present family. The course of osteolysis for MADA is progressive.
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Acroosteólisis/genética , Homocigoto , Lamina Tipo A/genética , Lipodistrofia/genética , Mandíbula/anomalías , Mutación , Progeria/genética , Pueblo Asiatico/genética , Niño , Preescolar , China , Femenino , Humanos , Lactante , Masculino , Osteólisis/genética , Linaje , Enfermedades Raras/genética , HermanosRESUMEN
OBJECTIVE: To examine the potential influence factors of abdominal aortic aneurysm (AAA). METHODS: A 1:2 pair-matched, case-control study was conducted from July 2011 to December 2012. A pair was composed of one AAA patient recruited from the Vascular Surgery Department, Chinese PLA General Hospital and two gender- and age-matched non-AAA subjects, one from the same hospital and the other from the community in Fangshan District in Beijing. Demographic data, medical history and the lifestyle of each subject were collected. Moreover, all the participants underwent abdominal ultrasound or computed tomography (CT) and peripheral venous blood samples were obtained. RESULTS: There were 155 case/control pairs. The multivariate conditional logistic regression model confirmed that suffering from hypertension conferred a 1.98-fold (95%CI 1.12-3.18) increased likelihood of AAA. Smoking was a strong independent risk factor of AAA, with odds ratios (95% confidence intervals) of 5.23 (2.44-11.23). Dyslipidemia (OR=2.61,95% CI 1.45-4.70), a higher level of serum hsCRP (OR=2.43,95%CI 1.37-4.31) and homocysteine (OR=2.73,95% CI 1.61-4.65) were all associated with AAA. CONCLUSION: Hypertension and smoking are the risk factors of AAA. Dyslipidemia, hsCRP and Hcy are associated with AAA.
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Aneurisma de la Aorta Abdominal/epidemiología , Pueblo Asiatico , Proteína C-Reactiva/metabolismo , Estudios de Casos y Controles , Dislipidemias , Homocisteína/sangre , Humanos , Hipertensión , Modelos Logísticos , Oportunidad Relativa , Factores de Riesgo , Fumar , Tomografía Computarizada por Rayos XRESUMEN
Several lines of evidence suggest that genetic variation in MUC5AC gene might contribute to the risk of gastric cancer. We conducted a case-control study to evaluate the relationship between common genetic variations in MUC5AC gene and non-cardia gastric cancer using an LD-based tagSNP approach in Baotou, north-western China. We genotyped 12 tagSNPs by TaqMan method among 288 cases with non-cardia gastric cancer and 281 normal controls. Unconditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for non-cardia gastric cancer risk in association with alleles, genotypes and haplotypes. We observed that the frequencies of rs3793964 C allele and rs11040869 A allele were significantly lower in cases than in controls. Meanwhile, minor allele homozygotes of rs3793964 and rs11040869 were significantly associated with a decreased risk of non-cardia gastric cancer when compared with their major allele homozygotes. Furthermore, a statistically significantly protective effect of rs885454 genotypes on non-cardia gastric cancer was also observed (for CT vs. CC: OR=0.581, 95%CI=0.408-0.829; for CT/TT vs. CC: OR=0.623, 95%CI=0.451-0.884). Our results indicated that some common genetic variations in the MUC5AC gene might have effects on the risk of non-cardia gastric cancer in our studied population.
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Mucina 5AC/genética , Neoplasias Gástricas/genética , Alelos , Cardias/patología , Estudios de Casos y Controles , China , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Variación Genética , Humanos , Masculino , Polimorfismo de Nucleótido SimpleRESUMEN
OBJECTIVE: To evaluate the association of known polymorphisms in the lipid metabolic pathway with body mass index (BMI), and estimate their interactions with soybean food intake. METHODS: A community-based cross-sectional survey was conducted in a Chinese Han population. BMI, soybean food intake, and single nucleotide polymorphisms of rs599839, rs3846662, rs3846663, rs12916, rs174547, rs174570, rs4938303, and rs1558861 were measured in 944 subjects. A multivariate logistic regression was used to analyze the association of the studied polymorphisms with BMIs. The expectation-maximization algorithm was employed to evaluate the extent of linkage disequilibrium between pairwise polymorphisms. The gene-environment interaction was assessed in the general multifactor dimensionality reduction model. RESULTS: The polymorphisms of rs3846662 and rs3846663 were associated with 10% highest BMIs when comparing to the 10% lowest values both in individuals and haplotype-based association tests. Although no statistically significant gene-environment interactions were found, people with the haplotype composed of C allele in rs3846662 and T allele in rs3846663 and low frequency of soybean intake had significantly higher risk to overweight and obesity as compared with those with the haplotype consisting of T allele in rs3846662 and C allele in rs3846663 and highly frequent soybean food intake, with an odds ratio of 1.64 (95% confidence interval: 1.15-2.34, P<0.01) after adjusting for the common confounders. CONCLUSION: Our study has suggested that rs3846662 and rs3846663 may be the potential candidate polymorphisms for obesity, and their effect on the pathogenesis could be mediated by the frequency of soybean food intake.
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Dieta , Glycine max , Metabolismo de los Lípidos/genética , Polimorfismo de Nucleótido Simple , Adulto , Apolipoproteína B-48/genética , Pueblo Asiatico/genética , Índice de Masa Corporal , Estudios Transversales , Dislipidemias/genética , Ingestión de Alimentos , Femenino , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Hidroximetilglutaril-CoA Reductasas/genética , Modelos Logísticos , Masculino , Persona de Mediana Edad , Sobrepeso/genética , Proteínas Represoras/genéticaRESUMEN
BACKGROUND: This study investigated suicide risk and its correlates among major affective disorder patients in China and examined possible risk factors for future suicide among individuals with major affective disorder to inform appropriate interventions and management approaches to minimize and prevent suicide. METHODS: A total of 1478 major affective disorder patients were consecutively examined in 13 mental health centers in China. The patients' socio-demographic and clinical characteristics were recorded using a standardized protocol and data collection procedure. DSM-IV diagnoses were established using the Mini International Neuropsychiatric Interview (MINI), and suicide risk was assessed by the suicide risk module of the MINI. RESULTS: Of the patients, 963 (65.2%) were in the nonsuicidal risk group and 515 (34.8%) were in the suicidal risk group. Compared to major depressive disorder patients, bipolar disorder patients had higher suicide risk levels (χ2=10.0, df=1, P=0.002); however, there were no statistically significant differences (χ2=2.6, df=1, P=0.1) between bipolar disorder-I and bipolar disorder-II patients. Suicide risk factors were associated with 6 variables in major affective disorder patients, as follows: male gender, unemployed, more frequent depressive episodes (>4 in the past year), depressive episodes with suicidal ideation and attempts, depressive episodes with psychotic symptoms, and no current antidepressant use. LIMITATIONS: Most of the data were retrospectively collected and, therefore, subject to recall bias. CONCLUSIONS: This study suggested that bipolar disorder patients have a higher suicide risk than major depressive disorder patients. The factors that were significantly associated with suicide risk may aid in identifying major affective disorder patients who are at risk for future suicidal behavior.
Asunto(s)
Trastorno Depresivo Mayor/psicología , Suicidio/psicología , Adulto , China , Femenino , Encuestas Epidemiológicas , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Riesgo , Suicidio/estadística & datos numéricosRESUMEN
Several lines of evidence suggest that MUC5AC genetic polymorphisms might confer susceptibility to H. pylori infection and therefore gastric cancer risk. We here assessed the association of common polymorphisms in the MUC5AC gene with H. pylori seroprevalence using an LD-based tagSNP approach in a north-western Chinese Han population. A total of 12 tagSNPs were successfully genotyped among 281 unrelated ethnic Han Chinese who had no cancer history, and no identifiable gastric disease or genetic disease. No significant association between any alleles, genotypes or haplotypes and H. pylori seroprevalence was observed. Our results suggest that common genetic variations in MUC5AC gene might not make a major contribution to the risk of H. pylori infection.
Asunto(s)
Adenocarcinoma/etiología , Infecciones por Helicobacter/complicaciones , Helicobacter pylori/genética , Mucina 5AC/genética , Polimorfismo de Nucleótido Simple/genética , Neoplasias Gástricas/sangre , Neoplasias Gástricas/etiología , Adenocarcinoma/patología , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Predisposición Genética a la Enfermedad , Infecciones por Helicobacter/epidemiología , Infecciones por Helicobacter/virología , Helicobacter pylori/inmunología , Helicobacter pylori/aislamiento & purificación , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Estudios Seroepidemiológicos , Neoplasias Gástricas/patologíaRESUMEN
PURPOSE: Little is known about gender differences associated with major depressive disorder (MDD) in China. This study examined gender differences associated with other demographic and clinical characteristics and psychotropic drug treatment in Chinese patients with MDD. METHODS: A total of 1178 patients with MDD from 13 psychiatric hospitals or psychiatric units of general hospitals in China nationwide were enrolled. Cross-sectional data including patients' demographic and clinical characteristics and prescriptions of psychotropic medications were recorded using a standardized protocol and data collection procedure. RESULTS: The sample consisted of 793 female and 385 male patients. Univariate analyses revealed that male patients were younger than female patients, had a younger age of onset of depression, had less lifetime depressive episodes and had more bipolar features (i.e. patients who screened positive for hypomanic symptoms on the 32-item Hypomania Checklist, but did not meet the diagnostic criteria for DSM-IV bipolar disorders as measured by the Mini International Neuropsychiatric Interview). Also, men were more likely to be employed than women and less likely to have depressive episodes following stressful life events. In multivariate analyses, being employed, having bipolar features and not having depressive episodes following stressful life events were independently associated with being a male patient with major depressive disorder. There was no difference in use of psychotropic medications by gender. CONCLUSIONS: Most gender differences in MDD patients in this study are not consistent with findings of Western studies suggesting that gender differences in MDD may be determined by both biological and sociocultural differences among ethnically different patient populations.