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Correlation of PCSK1 with nonalcoholic fatty liver disease in a Han Chinese population:a case-control observational study

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Journal of Bio-X Research 2022年第3期5卷 125-131页

作者： Xiao Yang Fan Yuan Na Wu Decheng Ren Liangjie Liu Yan Bi Lei Ji Ke Han Mofan Feng Kai Su Fengping Yang Xi Wu Qing Lu Siran Yue Fengyan Jiang Ruirui Wang Guang He Baocheng Liu Xingwang Li Yi Shi Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric DisordersShanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders and Brain Science and Technology Research CenterShanghai Jiao Tong University Shanghai Innovation Center of Traditional Chinese Medicine Health Service Shanghai University of Traditional Chinese MedicineShanghaiChina

Objective: This study aimed to investigate the association between single-nucleotide polymorphisms (SNPs) ofPCSK1 (proprotein convertase subtilisin/kexin type 1) related to obesity and nonalcoholic fatty liver disease (NAFLD).Methods: In this case-control observational study, four candidate SNPs (rs6234, rs155971, rs6232, rs3811951) ofPCSK1 were genotyped in 732 NAFLD patients and 823 healthy control participants, all of whom were of ethnic Han Chinese descent. All participants came from Shanghai, China, and joined our study during 2015 to 2016. The frequencies of each allele and genotype, paired linkage disequilibrium, and haplotype were calculated on the SHEsis platform. In addition to SHEsis, five different genetic models (codominant, dominant, recessive, overdominant, and log-additive) were employed to identify the correlation between genotype frequency and NAFLD. This study was approved by the Medical Ethics Committee of Shanghai University of Traditional Chinese Medicine (approved No. 2017LCSY069).Results: In a comparison of NAFLD patients and healthy participants, none of the fourPCSK1 SNPs were significantly correlated with the occurrence of NAFLD (P>0.05), in either genotypic or allelic distribution. The recessive model of rs3811951 appeared to show a correlation (odds ratio=1.077;95% confidence interval=0.924-1.256;P=0.04), but there was no statistical significance after Bonferroni correction (Pcorr>0.0125).Conclusions: Four obesity-relatedPCSK1 SNPs (rs6234, rs155971, rs6232, rs3811951) showed no significant correlation with the development of NAFLD in a Han Chinese population.

关键词： case-control correlation nonalcoholic fatty liver disease odds ratio PCSK1

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Association between PPARG genetic polymorphisms and ischemic stroke risk in a northern Chinese Han population: a case-control study

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Neural Regeneration Research 2019年第11期14卷 1986-1993页

作者： Yan-Zhe Wang He-Yu Zhang Fang Liu Lei Li Shu-Min Deng Zhi-Yi He Department of Neurology the First Hospital of China Medical University

Two common polymorphisms of the peroxisome proliferator-activated receptor gamma(PPARG) gene, rs1801282 and rs3856806, may be important candidate gene loci affecting the susceptibility to ischemic stroke. This case-control study sought to identify the relationship between these two single-nucleotide polymorphisms and ischemic stroke risk in a northern Chinese Han population. A total of 910 ischemic stroke participants were recruited from the First Hospital of China Medical University, Shenyang, China as a case group, of whom 895 completed the study. The 883 healthy controls were recruited from the Health Check Center of the First Hospital of China Medical University, Shenyang, China. All participants or family members provided informed consent. The study protocol was approved by the Ethics Committee of the First Hospital of China Medical University, China on February 20, 2012(approval No. 2012-38-1). The protocol was registered with the Chinese Clinical Trial Registry(registration number: ChiCTR-COC-17013559). Plasma genomic DNA was extracted from all participants and analyzed for rs1801282 and rs3856806 single nucleotide polymorphisms using a SNaPshot Multiplex sequencing assay. Odds ratios(ORs) and 95% confidence intervals(CIs) were calculated using unconditional logistic regression to estimate the association between ischemic stroke and a particular genotype. Results demonstrated that the G allele frequency of the PPARG gene rs1801282 locus was significantly higher in the case group than in the control group(P control and case groups were determined. The frequency of distribution in the G-T haplotype case group was significantly higher than that in the

关键词： nerve regeneration stroke cerebral ischemia ischemic stroke peroxisome proliferator-activated receptor γ single-nucleotide polymorphism haplotype analysis interaction case-control study Chinese Han population neural regeneration

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Strong Correlation of Abnormal Serum and Urinary Iodine Levels with Papillary Thyroid Cancer:A case-control Study

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Biomedical and Environmental Sciences 2020年第1期33卷 62-67页

作者： XIU Cheng HE Qian ZHAO Hong Jian YUAN Zhen Nan GUO Lun Hua WANG Feng Qian YANG Xian Guang TIAN Qiu Shi SUN Qi Hao MIAO Su Sheng SUN Ji FAN Li Jun JIA Shen Shan Department of Head and Neck Oncology the Third Affiliated HospitalHarbin Medical UniversityHarbin 150030HeilongjiangChina Public Health College Shandong First Medical University&Shandong Academy of Medical SciencesTai’an 271016ShandongChina General Surgery Department People's Hospital of Chengwu CountyHeze 274200ShandongChina Public Health College Harbin Medical UniversityHarbin 150076HeilongjiangChina Center for Endemic Disease control Chinese Center for Disease Control and PreventionHarbin Medical UniversityHarbin 150076HeilongjiangChina

Thyroid cancer is the most common malignancy of the endocrine system,and its incidence is increasing worldwide.In China,its incidence has increased from 1.78/104 in 1988 to 10.58/104 in2013.Thyroid cancers are mainly ... 详细信息

关键词： PTC Strong Correlation Abnormal Serum and Urinary Iodine Levels Papillary Thyroid Cancer:A case-control Study

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Nested case-control study on risk factors for opportunistic infections in patients with inflammatory bowel disease

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World Journal of Gastroenterology 2019年第18期25卷 2240-2250页

作者： Shan-Shan Gong Yi-Hong Fan Qing-Qing Han Bin Lv Yi Xu Department of Gastroenterology First Affiliated Hospital of Zhejiang Chinese Medical University

BACKGROUND When opportunistic infections occur, patients with inflammatory bowel disease(IBD) commonly display a significantly increased rate of morbidity and mortality.With increasing use of immunosuppressive agents and biological agents,opportunistic infections are becoming a hot topic in the perspective of drug safety in IBD patients. Despite the well-established role of opportunistic infections in the prognosis of IBD patients, there are few epidemiological data investigating the incidence of opportunis-tic infections in IBD patients in China. Besides, the risk factors for opportunistic infection in Chinese IBD patients remain unclear.AIM To predict the incidence of opportunistic infections related to IBD in China, and explore the risk factors for opportunistic infections.METHODS A single-center, prospective study of IBD patients was conducted. The patients were followed for up to 12 mo to calculate the incidence of infections. For each infected IBD patient, two non-infected IBD patients were selected as controls. A conditional logistic regression analysis was used to assess associations between putative risk factors and opportunistic infections, which are represented as odds ratios(OR) and 95% confidence intervals(CIs).RESULTS Seventy(28.11%) out of 249 IBD patients developed opportunistic infections.Clostridium difficile infections and respiratory syncytial virus infections were found in 24 and 16 patients, respectively. In a univariate analysis, factors such as the severity of IBD, use of an immunosuppressant or immunosuppressants, high levels of fecal calprotectin, and C-reactive protein or erythrocyte sedimentation rate were individually related to a significantly increased risk of opportunistic infection. Multivariate analysis indicated that the use of any immunosuppressant yielded an OR of 3.247(95%CI: 1.128-9.341), whereas the use of any two immunosuppressants yielded an OR of 6.457(95%CI: 1.726-24.152) for opportunistic infection. Interestingly, when immunosuppressants were used in combination with i

关键词： Nested case-control study Opportunistic infections Inflammatory bowel disease

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A likelihood-based method for haplotype association studies of case-control data with genotyping uncertainty

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Science China Mathematics 2006年第1期49卷 130-144页

作者： ZHU Wensheng GUO Jianhua School of Mathematics and Statistics Northeast Normal University Changchun 130024 China School of Mathematics and Statistics Northeast Normal University Changchun 130024 China

This paper discusses the associations between traits and haplotypes based on Fl (fluorescent intensity) data sets, We consider a clustering algorithm based on mixtures of t distributions to obtain all possible genotypes of each individual (i.e. "GenoSpectrum"). We then propose a likelihood-based approach that incorporates the genotyping uncertainty to assessing the associations between traits and haplotypes through a haplotypebased logistic regression model, Simulation studies show that our likelihood-based method can reduce the impact induced by genotyping errors.

关键词： haplotype-based association, GenoSpectrum, case-control study, genotyping error, logistic regression.

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case-control Study on the Vulnerability of Women to HIV, Kaolack, 2019

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Open Journal of Epidemiology 2022年第3期12卷 355-366页

作者： Abdoul Aziz Ndiaye Alioune Badara Tall Awa Ba Diya Diop Ndeye Fatou Ngom Papa Gallo Sow Martial Coly Bop Anta Tal Dia Université Alioune Diop de Bambey Bambey The Republic of Senegal Université Cheikh Anta Diop Dakar Dakar The Republic of Senegal

Introduction: Despite a low prevalence that hides disparities between regions and genders, HIV infection in Senegal is progressing. Women are more vulnerable. The objective was to study the determinants of women’s vulnerability to HIV/AIDS infection. Methodology: This was a case-control study carried out at the Kasnack Health Center, Kaolack in 2019. And 80 HIV-positive cases and 240 HIV-negative controls participated in the study. A questionnaire was administered to the selected women after their consent. Data were entered and analyzed using Epi Info and Stata software. Results: the mean age of the cases was 32 ± 9.7 years and that of the controls was 29.5 ± 8.5 years. Women were often housewives or traders;half of them had no schooling. Care was accessible for 74.4% of women. The level of knowledge of means of HIV prevention was medium in 71.3% of cases and 0.8% of controls. That of the modes of transmission was medium in 47.5% of cases and 0.8% of controls. The majority of controls (99.2%) had a low level of knowledge of means of prevention and modes of HIV transmission. Risky practices were 40% and 7.9% among cases and controls, respectively, and vulnerability was 40% and 7.9%, respectively. Conclusion: The level of HIV knowledge is low among most women. It is better in HIV-positive women who are more exposed to risky practices that increase their vulnerability. Reducing this vulnerability requires improving their knowledge and their empowerment.

关键词： HIV case-control Knowledge Vulnerability

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A semiparametric Wald statistic for testing logistic regression models based on case-control data

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Science China Mathematics 2008年第11期51卷 2020-2032页

作者： WAN ShuWen Biostatistics Lab, School of Life Sciences, Nanjing University, Nanjing 210093, China Biostatistics Lab School of Life Sciences Nanjing University Nanjing China

We propose a semiparametric Wald statistic to test the validity of logistic regression models based on case-control data. The test statistic is constructed using a semiparametric ROC curve estimator and a nonparametric ROC curve estimator. The statistic has an asymptotic chi-squared distribution and is an alternative to the Kolmogorov-Smirnov-type statistic proposed by Qin and Zhang in 1997, the chi-squared-type statistic proposed by Zhang in 1999 and the information matrix test statistic proposed by Zhang in 2001. The statistic is easy to compute in the sense that it requires none of the following methods: using a bootstrap method to find its critical values, partitioning the sample data or inverting a high-dimensional matrix. We present some results on simulation and on analysis of two real examples. Moreover, we discuss how to extend our statistic to a family of statistics and how to construct its Kolmogorov-Smirnov counterpart.

关键词： case-control data density ratio model empirical likelihood Kolmogorov-Smirnov statistic logistic regression ROC curve

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Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population

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Science China(Life Sciences) 2022年第4期65卷 770-780页

作者： Lei Xiao Dongyang Wu Yang Sun Dong Hu Jiaqi Dai Yanghui Chen Daowen Wang Division of Cardiology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiologic Disorders Huazhong University of Science and TechnologyWuhan430030China

To reveal genetic risks of early-onset sporadic dilated cardiomyopathy(DCM) patients in the Chinese Han population, we enlisted 363 DCM cases and 414 healthy controls. Whole-exome sequencing and phenotypic characterization were conducted. In total, we identified 26 loss-of-function(LOF) candidates and 66 pathogenic variants from 33 genes, most of which were novel.The deleterious variants can account for 25.07%(91/363) of all patients. Furthermore, rare missense variants in 21 genes were found to be significantly associated with DCM in burden tests. Other than rare variants, twelve common SNPs were significantly associated with an increased risk of DCM in allele-based genetic model association analysis. Of note, in the cumulative risk model, high-risk subjects had a 3.113-fold higher risk of developing DCM than low-risk subjects. Also, DCM in the high-risk group had a younger age of onset than that in the low-risk group. In terms of cardiac function, the mean left ventricular ejection fraction of patients with the deleterious variants was lower than those without(27.73%±10.02% vs. 30.61%±10.85%, P=0.026).To conclude, we mapped a comprehensive atlas of genetic risks in Chinese patients with DCM that might lead to new insights into the mechanisms and risk stratification for DCM.

关键词： DCM genetics case-control risk stratification

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Prevalence of sleep-disordered breathing in elderly patients with cardiac pacemaker: a case-control study

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Journal of Geriatric Cardiology 2005年第2期2卷 114-117页

作者： Haiyun WU Shiwen WANG Jianping JIA Wenli ZHANG Qiang XU Institute of Geriatric Cardiology General Hospital of PLA Beijing 100853 China Institute of Geriatric Cardiology General Hospital of PLA Beijing 100853 China The 463th Hospital of Chinese PLA Shenyang 110042 China Institute of Geriatric Cardiology General Hospital of PLA Beijing 100853 China Institute of Geriatric Cardiology General Hospital of PLA Beijing 100853 China

Objective To investigate the prevalence of sleep-disordered breathing in elderly patients with permanent cardiac pacemaker implantation due to bradyarrhythmias, and the relationship between pacing mode and patients' sleep apnea-hypopnea index.Methods Forty-four elderly patients (＞60 years) with cardiac pacemaker and their 44 controls matched for gender, age, body mass index and cardiovascular morbidity were studied using polysomnography or portable sleep monitoring device. Results Prevalence of sleep-disordered breathing (apnea-hypopnea index ≥5/h) was 44.7% and the mean apnea-hypopnea index was 8.2 ±4.1/h in the cardiac pacemaker group, which were significantly higher than those in control subjects (25% and 4.6±2.4/h, respectively, P＜0.01 and P＜0.05). The mean apnea-hypopnea index of patients with DDD or AAI pacemaker was significantly lower than that of patients with VVI pacemaker. Conclusions Sleep-disordered breathing was more common in patients who had their cardiac pacemaker implanted due to bradyarrhythmias than in their matched controls. Compared with VVI pacing, DDD or AAI pacing may be more beneficial to patients with bradyarrhythmias and sleep-disordered breathing.

关键词： sleep-disordered breathing bradyarrhythmia cardiac pacing case-control study

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Multicenter case-control study of the risk factors for ulcerative colitis in China

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World Journal of Gastroenterology 2013年第11期19卷 1827-1833页

作者： Yu-Fang Wang Qin Ou-yang Bing Xia Li-Na Liu Fang Gu Kai-Fang Zhou Qiao Mei Rui-Hua Shi Zhi-Hua Ran Xiao-Di Wang Pin-Jin Hu Kai-Chun Wu Xin-Guang Liu Ying-Lei Miao Ying Han Xiao-Ping Wu Guo-Bing He Jie Zhong Guan-Jian Liu Department of Gastroenterology West China HospitalSichuan University Department of Gastroenterology Zhongnan HospitalWuhan University School of Medicine Department of Gastroenterology First Affiliated Hospital of Dalian Medical University Department of Gastroenterology Third Hospital of Beijing University Department of Gastroenterology Union Hospital Tongji Medical CollegeHuazhong Science and Technology University Department of Gastroenterology First Affiliated Hospital of Anhui Medical University Department of Gastroenterology First Affiliated Hospital of Nanjing Medical University Department of Gastroenterology School of MedicineRenji HospitalShanghai Jiaotong University Department of Gastroenterology Beijing SinoJapan Friendship Hospital Department of Gastroenterology First Affiliated HospitalZhongshan Medical University State Key Laboratory of Cancer Biology and Xijing Hospital of Digestive Diseases Fourth Military Medical University Department of Gastroenterology First Affiliated HospitalPeking University Department of Gastroenterology First Affiliated Hospital of Kunming Medical College Department of Gastroenterology the Military General Hospital of Beijing PLA Department of Gastroenterology Xiangya HospitalSecond Affiliated Hospital of Zhongnan University Department of Gastroenterology Affiliated Hospital of North Sichuan Medical College Department of Gastroenterology Ruijin HospitalShanghai Jiaotong University Department of Epidemiology West China HospitalSichuan University

AIM:To evaluate potential risk factors in the development of ulcerative colitis(UC) in China.METHODS:A total of 1308 patients with UC and 1308 age-matched and sex-matched controls were prospectively studied in China.The UC cases were collected from 17 hospitals in China from April 2007 to April 2010.Uniform questionnaires were designed to investigate risk factors including smoking,appendectomy,stress,socio-economic conditions,nonsteroidal antiinflammatory drugs(NSAIDs),oral contraceptives,diet,breastfeeding,infections and family sanitary conditions.Group comparisons by each factor were done using simple logistic regression analysis.Conditional logistic regression was used for multivariate analysis.RESULTS:By univariate analysis,the variables predictive of UC included feeling stress,light and heavy alcoholic drinking,spicy food,sugar consumption and infectious diarrhea,while heavy tea intake and tap water consumption were protective against UC.On multivariate analysis,the protective factor for UC was tap water consumption [odds ratios(OR) = 0.424,95%CI:0.302-0.594,P < 0.001];while the potential risk factors for UC were heavy sugar consumption(OR = 1.632,95%CI:1.156-2.305,P < 0.001),spicy food(light intake:OR = 3.329,95%CI:2.282-4.857,P < 0.001;heavy intake:OR = 3.979,95%CI:2.700-5.863,P < 0.001),and often feeling stress(OR = 1.981,95%CI:1.447-2.711,P < 0.001).Other factors,such as smoking habit,appendectomy,breastfeeding,a history of measles,rural or urban residence,education,oral contraceptives,and NSAID use have not been found to have a significant association with the development of UC in the present study.CONCLUSION:Our study showed tap water consumption was a protective factor for UC,while spicy food,heavy sugar consumption and often feeling stress were risk factors for UC in this Chinese population.

关键词： Ulcerative colitis Risk factors case-control study

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