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| 1 | Clinical characteristics of 24 asymptomatic infections with COVID-19 screened among close contacts in Nanjing,China显示文摘Previous studies have showed clinical characteristics of patients with the 2019 novel coronavirus disease(COVID-19)and the evidence of person-to-person transmission.Limited data are available for asymptomatic infections.This study aims to present the clinical characteristics of 24 cases with asymptomatic infection screened from close contacts and to show the transmission potential of asymptomatic COVID-19 virus carriers.Epidemiological investigations were conducted among all close contacts of COVID-19 patients(or suspected patients)in Nanjing,Jiangsu Province,China,from Jan 28 to Feb 9,2020,both in clinic and in community.Asymptomatic carriers were laboratory-confirmed positive for the COVID-19 virus by testing the nucleic acid of the pharyngeal swab samples.Their clinical records,laboratory assessments,and chest CT scans were reviewed.As a result,none of the 24 asymptomatic cases presented any obvious symptoms while nucleic acid screening.Five cases(20.8%)developed symptoms(fever,cough,fatigue,etc.)during hospitalization.Twelve(50.0%)cases showed typical CT images of ground-glass chest and 5(20.8%)presented stripe shadowing in the lungs.The remaining 7(29.2%)cases showed normal CT image and had no symptoms during hospitalization.These 7 cases were younger(median age:14.0 years;P=0.012)than the rest.None of the 24 cases developed severe COVID-19 pneumonia or died.The median communicable period,defined as the interval from the first day of positive nucleic acid tests to the first day of continuous negative tests,was 9.5 days(up to 21 days among the 24 asymptomatic cases).Through epidemiological investigation,we observed a typical asymptomatic transmission to the cohabiting family members,which even caused severe COVID-19 pneumonia.Overall,the asymptomatic carriers identified from close contacts were prone to be mildly ill during hospitalization.However,the communicable period could be up to three weeks and the communicated patients could develop severe illness.These results highlighted the importance of close contact tracing and longitudinally surveillance via virus nucleic acid tests.Further isolation recommendation and continuous nucleic acid tests may also be recommended to the patients discharged. | Zhiliang Hu Ci Song Chuanjun Xu Guangfu Jin Yaling Chen Xin Xu Hongxia Ma Wei Chen Yuan Lin Yishan Zheng Jianming Wang Zhibin Hu Yongxiang Yi Hongbing Shen | 2020 | Science China(Life Sciences)2020，63，5： | 77 |
| 2 | Risk factors and long-term health consequences of macrosomia:a prospective study in Jiangsu Province,China显示文摘We sought to determine risk factors associated with fetal macrosomia and to explore the long-term consequence of infant macrosomia at the age of 7 years.A prospective population based cohort study was designed to examine the associations between maternal and perinatal characteristics and the risk of macrosomia.A nested case-control study was conducted to explore the long-term health consequence of infant macrosomia.The mean maternal age of the macrosomia group was 24.74±3.32 years,which is slightly older than that in the control group(24.35±3.14 years,P = 0.000).The mean maternal body mass index(BMI) at early pregnancy was 22.75±2.81 kg/m 2,which was also higher than that in the control group(21.76±2.59 kg/m 2,P = 0.000).About 64.6% of macrosomic neonates were males,compared with 51.0% in the control group(P = 0.000).Compared with women with normal weight(BMI:18.5-23.9 kg/m 2),women who were overweight(BMI:24-27.9 kg/m 2) or obese(BMI ≥ 28 kg/m 2),respectively,had a 1.69-fold(P = 0.000) and a 1.49-fold(P = 0.000) increased risks of having a neonate with macrosomia,while light weight(BMI<18.5 kg/m 2) women had an approximately 50% reduction of the risk.Furthermore,macrosomia infant had a 1.52-fold and 1.50-fold risk,respectively,of developing overweight or obesity at the age of 7 years(P = 0.001 and P = 0.000).Older maternal age,higher maternal BMI at early pregnancy and male gender were independent risk factors of macrosomia.Macrosomic infant was associated with an increased predisposition to develop overweight or obesity at the beginning of their childhood. | Shouyong Gu Xiaofei An Liang Fang Xiaomin Zhang Chunyan Zhang Jingling Wang Qilan Liu Yanfang Zhang Yongyue Wei Zhibin Hu Feng Chen Hongbing Shen | 2012 | The Journal of Biomedical Research2012，26，4： | 14 |
| 3 | Composition and flux of nutrients transport to the Changjiang Estuary显示文摘Based on the results of water sample measurements of nutrient concentrations at th e Datong Station of the Changjiang River from 1998 to 1999, combined w ith historical data of water quality, seasonal variations of nutrient concentrations and nutrient transports are discussed.The following results have been obtained: (1) the fluxes of the nitrate nitrogen, ammonium nitrogen and nitrite nitrogen increased by time-series from 1962 to 1990 , even if runoff volume had a little variation; (2) the concentrations and fluxes of the dissolved inorganic nitrogen (DIN) and dissolved in organic phosphorus (DIP) increased notably with time, but those of the dissolved silicon (DSI) decreased pronouncedly; and (3) the concentration s and fluxes changed synchronously with time between the Datong Station a nd the Changjiang Estuary. | ZHANG Shen,JI Hongbing,YAN Weijin,DUAN Shuiwang(Inst. of Geographic Sciences and Natural Resources Research, Beijing 100101, China) | 2003 | Journal of Geographical Sciences2003，13，1： | 13 |
| 4 | Pediatric reference intervals in China(PRINCE):design and rationale for a large,multicenter collaborative cross-sectional study显示文摘There is a lack of accurate pediatric reference intervals(RIs) in China, with most commonly used RIs established without consideration of the effect of age and gender. The Pediatric Reference Intervals in China(PRINCE) project aims to establish and verify pediatric RIs for 31 common laboratory measurands.The project will be a large, multicenter cross-sectional study:14,490 healthy children and adolescents aged up to 19 years will be surveyed by 10 children's hospitals and one pediatric department of a university hospital. To evaluate the feasibility and efficiency of the study methods, 602 children were surveyed in the pilot phase of the PRINCE study in April 2017: it found that some measurands were distinctly age dependent and that there were differences between values for males and females. The results of the pilot study affirmed the necessity of the PRINCE project for Chinese pediatrics. The pilot also indicated potential difficulties in the full survey, e.g., difficulties in recruiting children aged under 3 years and insufficient collection of blood samples from infants. The operation of the PRINCE project has been modified based on the findings in the pilot study toward improving the validity of the PRINCE project and promoting its openness and transparency. | Xin Ni Wenqi Song Xiaoxia Peng Ying Shen Yaguang Peng Qiliang Li Yan Wang Lixin Hu Yanying Cai Hong Shang Min Zhao Hong Jiang Yaoguo Huang Runqing Mu Wenxiang Chen Mingting Peng Chuanbao Zhang Jie Zeng Chenbin Li Hongling Yang Yongmei Jiang Jin Xu Guixia Li Hongbing Chen Yun Xiang Sancheng Cao Zhenxin Guo Dapeng Chen | 2018 | Science Bulletin2018，63，24： | 12 |
| 5 | Low-dose CT for lung cancer screening: opportunities and challenges显示文摘肺癌症在世界范围的最经常诊断的癌症和在男性和女性的癌症死亡的领先的原因之中。为肺癌症屏蔽结合了更早的干预长作为死亡减小的一条途径被学习了。然而,当低剂量的螺线计算了屏蔽的断层摄影术(LDCT ) 时,最小的进步直到最近被获得在使随机化的控制试用(RCT ) 从肺癌症在死亡表明了 20% 减小,屏蔽试用的国家的肺,从美国。根据这发现, LDCT 为由几个临床的指南在高风险的人口屏蔽的肺癌症被推荐了。然而,从在欧洲的下列独立 RCT 的结果没能显示出一致结论。另外,难处理的问题逐渐地与屏蔽的 LDCT 的进步出现了。这份报纸总结并且讨论为肺癌症屏蔽的 LDCT 的主要观察和挑战。在散布屏蔽的 LDCT 的实现前,质问,包括高假积极的率, overdiagnosis,庞大的费用,和放射风险,必须被探讨。互补 biomarkers 和技术改进在在不久的将来屏蔽的肺癌症的领域里被期望。 | Hongbing Shen | 2018 | Frontiers of Medicine2018，12，1： | 12 |
| 6 | Weighted Markov chains for forecasting and analysis in Incidence of infectious diseases in jiangsu Province,China显示文摘This paper first applies the sequential cluster method to set up the classification standard of infectious disease incidence state based on the fact that there are many uncertainty characteristics in the incidence course.Then the paper presents a weighted Markov chain,a method which is used to predict the future incidence state.This method assumes the standardized self-coefficients as weights based on the special characteristics of infectious disease incidence being a dependent stochastic variable.It also analyzes the characteristics of infectious diseases incidence via the Markov chain Monte Carlo method to make the long-term benefit of decision optimal.Our method is successfully validated using existing incidents data of infectious diseases in Jiangsu Province.In summation,this paper proposes ways to improve the accuracy of the weighted Markov chain,specifically in the field of infection epidemiology. | Zhihang Peng Changjun Bao Yang Zhao Honggang Yi Letian Xia Hao Yu Hongbing Shen Feng Chen | 2010 | The Journal of Biomedical Research2010，24，3： | 10 |
| 7 | Genetic Polymorphisms in the Precursor MicroRNA Flanking Region and Non-Small Cell Lung Cancer Survival显示文摘 | Hu, Zhibin Shu, Yongqian Chen, Yijiang Chen, Jiaping Dong, Jing Liu, Yao Pan, Shiyang Xu, Lin Xu, Jing Wang, Yi Dai , Juncheng Ma, Hongxia Jin, Guangfu Shen,Hongbing | 2011 | 南京医科大学学报(自然科学版)2011，31，6： | 8 |
| 8 | Genetic variants in RAN, DICER and HIWI of microRNA biogenesis genes and risk of cervical carcinoma in a Chinese population显示文摘Objective:Recent evidence indicates that dysregulation of microRNA(miRNA)biogenesis is implicated in cancer development and progression.Based on the important role of miRNA biogenesis genes in carcinogenesis,we hypothesized that genetic variations of the miRNA biogenesis genes may modulate susceptibility to cervical cancer.Methods:We identified three single nucleotide polymorphisms(SNPs)located in the 3'-untranslated regions(3'-UTR)of of miRNA biogenesis key genes(rs1057035 in DICER,rs3803012 in RAN and rs10773771 in HIWI)and genotyped these SNPs in a case-control study of 1,486 cervical cancer cases and1,549 cancer-free controls in Chinese women.Results:Logistic regression analyses showed that no significant associations were observed between the three SNPs and cervical cancer risk[rs3803012 in RAN AG/GG vs.AA adjusted OR=1.104,95%confidence interval(CI):0.859-1.419;rs1057035 in DICER CT/CC vs.TT adjusted OR=0.962,95%CI:0.805-1.149;rs10773771 in HIWI CT/CC vs.TT adjusted OR=0.963,95%CI:0.826-1.122].Conclusions:The findings did not suggest that genetic variants in the 3'-UTR of RAN,DICER and HIWI of miRNA biogenesis genes were associated with the risk of cervical cancer in this Chinese population. | Jiaping Chen Zhenzhen Qin Shandong Pan Jie Jiang Li Liu Jibin Liu Xiaojun Chen Zhibin Hu Hongbing Shen | 2013 | Chinese Journal of Cancer Research2013，25，5： | 8 |
| 9 | 校近期发表IF≥4.0的SCI论文摘要--Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population显示文摘 | Jin Guangfu Shu Yongqian Tian Tian Liang Jie Xu Yan Wang Furu Chen Jianjian Dai Juncheng Hu Zhibin Shen Hongbing Xu Lin | 2009 | 南京医科大学学报(自然科学版)2009，29，10： | 7 |
| 10 | Prognostic assessment of apoptotic gene polymorphisms in non-small cell lung cancer in Chinese显示文摘Apoptosis plays a key role in inhibiting tumor growth, progression and resistance to anti-tumor therapy. We hypothesized that genetic variants in apoptotic genes may affect the prognosis of lung cancer. To test this hypothesis, we selected 38 potentially functional single nucleotide polymorphisms (SNPs) from 12 genes (BAX, BCL2, BID, CASP3, CASP6, CASP7, CASP8, CASP9, CASP10, FAS, FASLG and MCL1) involved in apoptosis to assess their prognostic significance in lung cancer in a Chinese case cohort with 568 non-small cell lung cancer (NSCLC) patients. Thirty-five SNPs passing quality control underwent association analyses, 11 of which were shown to be significantly associated with NSCLC survival (P<0.05). After Cox stepwise regression analyses, 3 SNPs were independently associated with the outcome of NSCLC (BID rs8190315: P=0.003; CASP9 rs4645981: P=0.007 and FAS rs1800682: P=0.016). A favorable survival of NSCLC was significantly associated with the genotypes of BID rs8190315 AG/GG (adjusted HR=0.65, 95% CI: 0.49-0.88), CASP9 rs4645981 AA (HR=0.22, 95% CI: 0.07-0.69) and FAS rs1800682 GG (adjusted HR=0.67, 95% CI: 0.46-0.97). Time-dependent receptor operation curve (ROC) analysis revealed that the area under curve (AUC) at year 5 was significantly increased from 0.762 to 0.819 after adding the risk score of these 3 SNPs to the clinical risk score. The remaining 32 SNPs were not significantly associated with NSCLC prognosis after adjustment for these 3 SNPs. These findings indicate that BID rs8190315, CASP9 rs4645981 and FAS rs1800682 polymorphisms in the apoptotic pathway may be involved in the prognosis of NSCLC in the Chinese population. | Songyu Cao Cheng Wang Xinen Huang Juncheng Dai Lingmin Hu Yao Liu Jiaping Chen Hongxia Ma Guangfu Jin Zhibin Hu Lin Xu Hongbing Shen | 2013 | The Journal of Biomedical Research2013，27，3： | 6 |
| 11 | A 5'-flanking region polymorphism in toll-like receptor 4 is associated with gastric cancer in a Chinese population显示文摘Objective:Inflammation induced by H.pylori colonization in the stomach is related to the development of gastric cancer and the genetic variations of the genes involved in the immune responses modify the host response to the infection. The aim of this study was to evaluate whether polymorphisms in the toll-like receptor 4 (TLR4) gene, a key regulator of both innate and adaptive immunity, were related to the susceptibility togastric cancer in a Chinese population. Methods: Two variations in the 5'-flanking region of TLR4 (rs1927914 T>C and rs10759932 T>C) were genotyped by using the PCR-restriction fragment length polymorphism (RFLP) assay in a case-control study of 1,053 incident gastric cancer cases and 1,100 cancer-free controls in a Chinese population. Results: Individuals carrying the C allele of rs10759932 had a significantly reduced risk of gastric cancer (adjusted OR=0.81; 95%CI=0.67-0.96), compared with the wild-type homozygote (TT), and the protective effect was not significantly different among subgroups stratified by age, sex, smoking, drinking and H.pylori infection status (P for heterogeneity >0.05). No significant association was observed between rs1927914 and gastric cancer risk in this study population. Conclusion: The T to C allele substitution of rs10759932 may play a protective role in gastric carcinogenesis in a Chinese population. Large studies with different ethnic populations are warranted to confirm these findings. | Hua Huang Juan Wu Guangfu Jin Hanze Zhang Yanbing Ding Zhaolai Hua Yan Zhou Yan Xue Yan Lu Zhibin Hu Yaochu Xu Hongbing Shen | 2010 | The Journal of Biomedical Research2010，24，2： | 5 |
| 12 | U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population显示文摘在由维持 chromosomal 正直并且阻止染色体的生物变老的一个关键角色结束的 Telomeres 玩熔化。流行病学的研究建议了 telomere 长度的内部个人的差别能影响倾向到多重癌症,但是关于食道的有鳞的房间癌(ESCC ) 的证据仍然是不明确的。几 telomere 在白种人的长度相关的单个核苷酸多型性(TLSNP ) 在染色体宽的协会研究被报导了。然而,在 ESCC 开发的 telomere 长度和 TL-SNPs 的效果是不清楚的。因此,我们进行了盒子控制研究(1045 个 ESCC 案例和 1433 控制) 在中国人口评估在 telomere 长度, TL-SNPs,和 ESCC 风险之间的协会。作为结果, ESCC 案例显示出全面更短的相对 telomere 长度(RTL )( 中部:1.34 ) 比控制(中部:1.50, P < 0.001 ) 。更有趣地,一个明显的非线性的U字形的协会在 RTL 和 ESCC 风险之间被观察( P < 0.001 )与比率(95%信心间隔)等于到 2.40 的机会( 1.843.14 ), 1.36 ( 1.031.79 ), 1.01 ( 0.761.35 ),并且 1.37 ( 1.031.82 )为个人在第一(最短),第二,第三,并且 第5 (最长) quintile 分别地,在是的 第4 quintile 与那些相比引用组。没有重要协会在八报导 TL-SNPs 和 ESCC 危险性之间被观察。这些调查结果建议短或极其长的 telomeres 可以是为在中国人口的 ESCC 的风险因素。 | Jiangbo Du Wenjie Xue Yong Ji Xun Zhu Yayun Gu Meng Zhu Cheng Wang Yong Gao Juncheng Dai Hongxia Ma Yue Jiang Jiaping Chen Zhibin Hu Guangfu Jin Hongbing Shen | 2015 | Frontiers of Medicine2015，9，4： | 4 |
| 13 | RNA-seq analysis identified hormone-related genes associated with prognosis of triple negative breast cancer显示文摘Triple negative breast cancer(TNBC) is an aggressive subtype of breast cancer that currently lacks effective biomarkers and therapeutic targets required to investigate the diagnosis and treatment of TNBC. Here we performed a comprehensive differential analysis of 165 TNBC samples by integrating RNA-seq data of breast tumor tissues and adjacent normal tissues from both our cohort and The Cancer Genome Atlas(TCGA). Pathway enrichment analysis was conducted to evaluate the biological function of TNBC-specific expressed genes. Further multivariate Cox proportional hazard regression was performed to evaluate the effect of these genes on TNBC prognosis. In this report, we identified a total of 148 TNBC-specific expressed genes that were primarily enriched in mammary gland morphogenesis and hormone levels related pathways, suggesting that mammary gland morphogenesis might play a unique role in TNBC patients differing from other breast cancer types. Further survival analysis revealed that nine genes(FSIP1, ADCY5, FSD1, HMSD, CMTM5, AFF3, CYP2 A7, ATP1 A2,and C11 orf86) were significantly associated with the prognosis of TNBC patients, while three of them(ADCY5,CYP2 A7, and ATP1 A2) were involved in the hormone-related pathways. These findings indicated the vital role of the hormone-related genes in TNBC tumorigenesis and may provide some independent prognostic markers as well as novel therapeutic targets for TNBC. | Fei Chen Yuancheng Li Na Qin Fengliang Wang Jiangbo Du Cheng Wang Fangzhi Du Tao Jiang Yue Jiang Juncheng Dai Zhibin Hu Cheng Lu Hongbing Shen | 2020 | The Journal of Biomedical Research2020，34，2： | 4 |
| 14 | Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma显示文摘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 15581 lung adenocarcinoma(AD)cases,8350 squamous cell carcinoma(SqCC)cases,and 27355 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 genebased 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 wellstudied 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. | Na Qin Yuancheng Li Cheng Wang Meng Zhu Juncheng Dai Tongtong Hong Demetrius Albanes Stephen Lam Adonina Tardon Chu Chen Gary Goodman Stig EBojesen Maria Teresa Landi Mattias Johansson Angela Risch H-Erich Wichmann Heike Bickeboller Gadi Rennert Susanne Arnold Paul Brennan John KField Sanjay Shete Loic Le Marchand Olle Melander Hans Brunnstrom Geoffrey Liu Rayjean JHung Angeline Andrew Lambertus AKiemeney Shan Zienolddiny Kjell Grankvist Mikael Johansson Neil Caporaso Penella Woll Philip Lazarus Matthew BSchabath Melinda CAldrich Victoria LStevens Guangfu Jin David CChristiani Zhibin Hu Christopher IAmos Hongxia Ma Hongbing Shen | 2021 | Frontiers of Medicine2021，15，2： | 3 |
| 15 | Prognostic value of systemic immune- inflammation index in acute/subacute patients with cerebral venous sinus thrombosis显示文摘Objective To evaluate the prognosis values of systemic immune-inflammation index(SII)in non-chronic cerebral venous sinus thrombosis(CVST).Methods patients with CVST,admitted to the First Affiliated Hospital of Zhengzhou University,were retrospectively identified from January 2013 to December 2018.We selected patients in acute/subacute phase from database.Functional outcomes of patients were evaluated with the modified Rankin Scale(mRS)-mRS 3-6 as poor outcomes and mRS 6 as death.The overall survival time was defined as the date of onset to the date of death or last follow-up date.Survival analysis was described by the Kaplan-Meier curve and Cox regression analysis.Multivariate logistic regression analysis assessed the relationship between SII and poor functional outcome.The area under the Receiver Operating Curve curve(AUC)was estimated to evaluate the ability of SII in prediction.Results A total of 270 patients were included and their duration of follow-up was 22 months(6-66 months),of whom 31 patients had poor outcomes and 24 patients dead.Cox regression analysis showed that SII(HR=1.304,95%CI:1.101 to 1.703,p=0.001)was a predictor of death in non-chronic CVST.Patients with higher SII presented lower survival rates(p=0.003).The AUC of SII was 0.792(95%CI:0.695 to 0.888,p=0.040)with a sensitivity of 69.6%and specificity of 80.1%.Subgroups analysis demonstrated that SII was an important predictor of poor outcomes in male(OR=1.303,95%CI:1.102 to 1.501,p=0.011)and pregnancy/puerperium female(OR=1.407,95%CI:1.204 to 1.703,p=0.034).Conclusions SII was a potential predictor in the poor prognosis of patients with acute/subacute CVST,especially in male and pregnancy/puerperium female. | Shen Li Kai Liu Yuan Gao Lu Zhao Rui Zhang Hui Fang Yongli Tao Hongbing Liu Jiawei Zhao Zongping Xia Yuming Xu Bo Song | 2020 | Stroke & Vascular Neurology2020，5，4： | 3 |
| 16 | Polygenic risk scores:the future of cancer risk prediction,screening,and precision prevention显示文摘Genome-wide association studies(GWASs)have shown that the genetic architecture of cancers are highly polygenic and enabled researchers to identify genetic risk loci for cancers.The genetic variants associated with a cancer can be combined into a polygenic risk score(PRS),which captures part of an individual’s genetic susceptibility to cancer.Recently,PRSs have been widely used in cancer risk prediction and are shown to be capable of identifying groups of individuals who could benefit from the knowledge of their probabilistic susceptibility to cancer,which leads to an increased interest in understanding the potential utility of PRSs that might further refine the assessment and management of cancer risk.In this context,we provide an overview of the major discoveries from cancer GWASs.We then review the methodologies used for PRS construction,and describe steps for the development and evaluation of risk prediction models that include PRS and/or conventional risk factors.Potential utility of PRSs in cancer risk prediction,screening,and precision prevention are illustrated.Challenges and practical considerations relevant to the implementation of PRSs in health care settings are discussed. | Yuzhuo Wang Meng Zhu Hongxia Ma Hongbing Shen | 2021 | Medical Review2021，1，2： | 2 |
| 17 | Association of microRNA polymorphisms with the risk of head and neck squamous cell carcinoma in a Chinese population:a case-control study显示文摘Background:MicroRNA(miRNA) polymorphisms may alter miRNA-related processes,and they likely contribute to cancer susceptibility.Various studies have investigated the associations between genetic variants in several key miRNAs and the risk of human cancers;however,few studies have focused on head and neck squamous cell carcinoma(HNSCC) risk.This study aimed to evaluate the associations between several key miRNA polymorphisms and HNSCC risk in a Chinese population.Methods:In this study,we genotyped five common single-nucleotide polymorphisms(SNPs) in several key miRNAs(miR-149 rs2292832,miR-146 a rs2910164,miR-605 rs2043556,miR-608 rs4919510,and miR-196a2 rs11614913) and evaluated the associations between these SNPs and HNSCC risk according to cancer site with a case-control study including 576 cases and 1552 controls,which were matched by age and sex in a Chinese population.Results:The results revealed that miR-605 rs2043556[dominant model:adjusted odds ratio(OR) 0.71,95%confidence interval(CI) 0.58-0.88;additive model:adjusted OR 0.74,95%CI 0.62-0.89]and miR-196a2 rs11614913(dominant model:adjusted OR 1.36,95%C11.08-1.72;additive model:adjusted OR 1.28,95%C11.10-1.48) were significantly associated with the risk of oral squamous cell carcinoma(OSCC).Furthermore,when these two loci were evaluated together based on the number of putative risk alleles(rs2043556 A and rs11614913 G),a significant locus-dosage effect was noted on the risk of OSCC(P_(trend) < 0.001).However,no significant association was detected between the other three SNPs(miR-149 rs2292832,miR- 146 a rs2910164,and miR-608 rs4919510) and HNSCC risk.Conclusion:Our study provided the evidence that miR-605 rs2043556 and miR-196a2 rs11614913 may have an impact on genetic susceptibility to OSCC in Chinese population. | Limin Miao Lihua Wang Longbiao Zhu Jiangbo Du Xun Zhu Yuming Niu Ruixia Wang Zhibin Hu Ning Chen Hongbing Shen Hongxia Ma | 2016 | Chinese Journal of Cancer2016，35，11： | 2 |
| 18 | Association of assisted reproductive technology, germline de novo mutations and congenital heart defects in a prospective birth cohort study显示文摘Emerging evidence suggests that children conceived through assisted reproductive technology(ART)have a higher risk of congenital heart defects(CHDs)even when there is no family history.De novo mutation(DNM)is a well-known cause of sporadic congenital diseases;however,whether ART procedures increase the number of germline DNM(gDNM)has not yet been well studied.Here,we performed whole-genome sequencing of 1137 individuals from 160 families conceived through ART and 205 families conceived spontaneously.Children conceived via ART carried 4.59 more gDNMs than children conceived spontaneously,including 332 paternal and 1.26 maternal DNMs,after correcting for parental age at conception,cigarette smoking,alcohol drinking,and exercise behaviors.Paternal DNMs in offspring conceived via ART are characterized by C>T substitutions at CpG sites,which potentially affect protein-coding genes and are significantly associated with the increased risk of CHD.In addition,the accumulation of non-coding functional mutations was independently associated with CHD and 87.9% of the mutations were originated from the father.Among ART offspring,infertility of the father was associated with elevated paternal DNMs;usage of both recombinant and urinary follicle-stimulating hormone and high-dosage human chorionic gonadotropin trigger was associated with an increase of maternal DNMs.In sum,the increased gDNMs in offspring conceived by ART were primarily originated from fathers,indicating that ART itself may not be a major reason for the accumulation of gDNMs.Our findings emphasize the importance of evaluating the germline status of the fathers in families with the use of ART. | Cheng Wang Hong Lv Xiufeng Ling Hong Li Feiyang Diao Juncheng Dai Jiangbo Du Ting Chen Qi Xi Yang Zhao Kun Zhou Bo Xu Xiumei Han Xiaoyu Liu Meijuan Peng Congcong Chen Shiyao Tao Lei Huang Cong Liu Mingyang Wen Yangqian Jiang Tao Jiang Chuncheng Lu Wei Wu Di Wu Minjian Chen Yuan Lin Xuejiang Guo Ran Huo Jiayin Liu Hongxia Ma Guangfu Jin Yankai Xia Jiahao Sha Hongbing Shen Zhibin Hu | 2021 | Cell Research2021，31，8： | 2 |
| 19 | Comparison of dimension reduction-based logistic regression models for case-control genome-wide association study:principal components analysis vs.partial least squares显示文摘With recent advances in biotechnology, genome-wide association study(GWAS) has been widely used to identify genetic variants that underlie human complex diseases and traits. In case-control GWAS, typical statistical strategy is traditional logistical regression(LR) based on single-locus analysis. However, such a single-locus analysis leads to the well-known multiplicity problem, with a risk of inflating type I error and reducing power. Dimension reduction-based techniques, such as principal component-based logistic regression(PC-LR), partial least squares-based logistic regression(PLS-LR), have recently gained much attention in the analysis of high dimensional genomic data. However, the perfor?mance of these methods is still not clear, especially in GWAS. We conducted simulations and real data application to compare the type I error and power of PC-LR, PLS-LR and LR applicable to GWAS within a defined single nucleotide polymorphism(SNP) set region. We found that PC-LR and PLS can reasonably control type I error under null hypothesis.On contrast, LR, which is corrected by Bonferroni method, was more conserved in all simulation settings. In particular, we found that PC-LR and PLS-LR had comparable power and they both outperformed LR, especially when the causal SNP was in high linkage disequilibrium with genotyped ones and with a small effective size in simulation. Based on SNP set analysis, we applied all three methods to analyze non-small cell lung cancer GWAS data. | Honggang Yi Hongmei Wo Yang Zhao Ruyang Zhang Junchen Dai Guangfu Jin Hongxia Ma Tangchun Wu Zhibin Hu Dongxin Lin Hongbing Shen Feng Chen | 2015 | The Journal of Biomedical Research2015，29，4： | 2 |
| 20 | A germline variant N375S in MET and gastric cancer susceptibility in a Chinese population显示文摘MET tyrosine kinase and its ligand,hepatocyte growth factor(HGF),play a pivotal role in the activties of tumor cells.A germline missense variant in exon 2 of the MET gene,N375S(rs33917957 A>G),may alter the binding affinity of MET for HGF and thus modify the risk of tumorigenesis.In this study,we performed a case-control study to assess the association between N375S and gastric cancer risk in 1,681 gastric cancer cases and 1,858 cancer-free controls.Logistic regression analysis was applied to estimate crude and adjusted odds ratios(ORs) and 95% confidence intervals(CIs) for the associations between genotypes and gastric cancer risk.We found that MET N375S variant genotypes(NS/SS) were associated with a significantly decreased risk of gastric cancer(OR = 0.78,95% CI = 0.63-0.96,P = 0.021) compared with the wildtype homozygote(NN).The finding indicates that this germline variant in MET may decrease gastric cancer susceptibility in Han Chinese. | Yao Liu Qin Zhang Chuanli Ren Yanbing Drag Guangfu Jin Zhibin Hu Yaochu Xu Hongbing Shen | 2012 | The Journal of Biomedical Research2012，26，5： | 2 |
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