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Asian Journal of Andrology 2015年第1期17卷 168-170页

作者： Han-Min Wei Hai-Tao Chen Ping Wang Yi-Shuo Wu Rong Na Fang Liu Ji-Shan Sun De-Ke Jiang Da-Ru Lu Jianfeng Xu State Key Laboratory of genetic Engineering School of Life Sciences Fudan University Shanghai 200433 China Center for genetic Epidemiology School of Life Sciences Fudan University Shanghai 200433 China Fudan Institute of Urology Huashan Hospital Fudan University Shanghai 200040 China Center for Cancer Genomics Wake Forest School of Medicine Winston-Salem NC 27157 USA.

Dear Editor We report here the performance of prostate cancer antigen 3 （PCA3） and genetic risk score （GRS） in predicting prostate cancer （PCa） from the prostate biopsy. To the best of our knowledge, this is th... 详细信息

关键词： Prostate cancer genetic risk score

Machine Learning Models for genetic risk Assessment of Infants with Non-syndromic Orofacial Cleft

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Genomics, Proteomics & Bioinformatics 2018年第5期16卷 354-364页

作者： Shi-Jian Zhang Peiqi Meng Jieni Zhang Peizeng Jia Jiuxiang Lin Xiangfeng Wang Feng Chen Xiaoxing Wei Beijing Advanced Innovation Center for Food Nutrition and Human Health College of Agronomy and Biotechnology China Agricultural University Department of Orthodontics & Central Laboratory Peking University School and Hospital of Stomatology State Key Laboratory of Plateau Ecology and Agriculture Medical College of Qinghai University

The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate(NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and complex interactions between genetic and environmental factors, imposing difficulty for the genetic assessment of the unborn fetus carrying multiple NSCL/P-susceptible variants. Although genome-wide association studies(GWAS)have uncovered dozens of single nucleotide polymorphism(SNP) loci in different ethnic populations, the genetic diagnostic effectiveness of these SNPs requires further experimental validation in Chinese populations before a diagnostic panel or a predictive model covering multiple SNPs can be built. In this study, we collected blood samples from control and NSCL/P infants inHan and Uyghur Chinese populations to validate the diagnostic effectiveness of 43 candidate SNPs previously detected using GWAS. We then built predictive models with the validated SNPs using different machine learning algorithms and evaluated their prediction performance. Our results showed that logistic regression had the best performance for risk assessment according to the area under curve. Notably, defective variants in MTHFR and RBP4, two genes involved in folic acid and vitamin A biosynthesis, were found to have high contributions to NSCL/P incidence based on feature importance evaluation with logistic regression. This is consistent with the notion that folic acid and vitamin A are both essential nutritional supplements for pregnant women to reduce the risk of conceiving an NSCL/P baby. Moreover, we observed a lower predictive power in Uyghur than in Han cases, likely due to differences in genetic background between these two ethnic ***, our study highlights the urgency to generate the HapMap for Uyghur population and perform resequencing-based screening of Uyghur-specific NSCL/P markers.

关键词： Orofacial cleft genetic risk Folic acid Vitamin A Nutritional intervention

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

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Frontiers of Medicine 2023年第4期17卷 768-780页

作者： Jiaqi Dai Tao Wang Ke Xu Yang Sun Zongzhe Li Peng Chen Hong Wang Dongyang Wu Yanghui Chen Lei Xiao Hao Liu Haoran Wei Rui Li Liyuan Peng Ting Yu Yan Wang Zhongsheng Sun Dao Wen Wang Division of Cardiology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China Hubei Key Laboratory of genetics and Molecular Mechanism of Cardiologic Disorders Huazhong University of Science and TechnologyWuhan 430030China

Previous studies have revealed that patients with hypertrophic cardiomyopathy(HCM)exhibit differences in symptom severity and prognosis,indicating potential HCM subtypes among these ***,793 patients with HCM were recruited at an average follow-up of 32.78±27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography ***,we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing *** independent cohort that consisted of 414 patients with HCM was recruited to replicate the ***,two subtypes characterized by different clinical outcomes were identified in *** with subtype 2 presented asymmetric septal hypertrophy associated with a stable course,while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive *** learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype ***,the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection *** employing echocardiography and genetic screening for the 46 genes,HCM can be classified into two subtypes with distinct clinical outcomes.

关键词： machine learning methods hypertrophic cardiomyopathy genetic risk

A common variant in the precursor miR-146a sequence does not predispose to cholangiocarcinoma in a large European cohort

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Hepatobiliary & Pancreatic Diseases International 2012年第4期11卷 412-417页

作者： Florentina Mihalache Aksana Hblinger Monica Acalovschi Tilman Sauerbruch Frank Lammert Vincent Zimmer Department of Medicine Ⅱ Saarland University Hospital66421 HomburgGermany Department of Medicine Ⅲ University Iuliu Hatieganu Department of Internal Medicine Ⅰ University Hospital Bonn

BACKGROUND:Micro-RNAs(miRNAs) are small,non-coding RNA species considered to fine-tune basic cellular functions by modulating target gene translation and/or mRNA stability.A common G/C polymorphism(rs2910164) in the precursor(pre-) miR-146a gene engaged in NF-κB signaling and apoptosis pathways has been reported to modulate the genetic risk of hepatocellular carcinoma by increased G-allelic production of mature *** investigated rs2910164 in a large Europeanbased cholangiocarcinoma(CCA) ***:We recruited 182 CCA patients and 350 controls in three academic medical *** for rs2910164 was performed by PCR-based assays with 5’-nuclease and fluorescence *** frequencies were tested for consistency with the Hardy-Weinberg equilibrium using an exact test;allelic and genotypic differences between the patients and controls were assessed by the Chi-square test and Armitage’s trend *** subgroup analyses included gender,tumor localization(extra-versus intrahepatic CCA) and early-onset ***:Genotype distributions were consistent with the Hardy-Weinberg *** significant differences in either allele or genotype distributions were detected between the CCA and control groups or the respective subgroups ***,there was a trend for a protective effect of the heterozygous single-nucleotide polymorphism state GC,as indicated by an underrepresentation in the CCA group in general(29% vs 35%;P=0.18) and,in particular,for extrahepatic tumor sites(26% vs 35%;OR=0.67;95% CI,0.43-1.02;P=0.065).CONCLUSIONS:Our data do not support a prominent contribution of the pre-miR-146a sequence variant in the genetic predisposition to ***,current studies functionally characterizing rs2910164 have proposed that distinct repertoires of target genes are addressed by genotype-specific mature miR146a *** the detected trend towards a potentially protective role of GC heterozygosity,a subtle modulation of g

关键词： miR-146a miR-SNP biliary tract cancer cholangiocarcinoma genetic risk

The inferior frontal gyrus and familial risk for bipolar disorder

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Psychoradiology 2022年第4期2卷 171-179页

作者： Kun Qin John A.Sweeney Melissa P.DelBello Department of Psychiatry and Behavioral Neuroscience University of Cincinnati College of MedicineCincinnatiOH 45219USA Huaxi MR Research Center(HMRRC) Department of RadiologyWest China Hospital of Sichuan UniversityChengduSichuan 610041China

Bipolar disorder(BD)is a familial disorder with high *** factors have been linked to the pathogenesis of *** of probands with BD who are at familial risk can exhibit brain abnormalities prior to illness *** its involvement in prefrontal cognitive control and in frontolimbic circuitry that regulates emotional reactivity,the inferior frontal gyrus(IFG)has been a focus of research in studies of BD-related pathology and BD-risk *** this review,we discuss multimodal neuroimaging findings of the IFG based on studies comparing at-risk relatives and low-risk *** of these studies in at-risk cases suggests the presence of both risk and resilience markers related to the ***-risk individuals exhibited larger gray matter volume and increased functional activities in IFG compared with low-risk controls,which might result from an adaptive brain compensation to support emotion regulation as an aspect of psychological *** connectivity between IFG and downstream limbic or striatal areas was typically decreased in at-risk individuals relative to controls,which could contribute to risk-related problems of cognitive and emotional ***-scale and longitudinal investigations on at-risk individuals will further elucidate the role of IFG and other brain regions in relation to familial risk for BD,and together guide identification of at-risk individuals for primary prevention.

关键词： bipolar disorder prefrontal limbic familial risk resilience magnetic resonance imaging genetic risk

Pancreatic cancer risk variant ABO rs505922 in patients with cholangiocarcinoma

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World Journal of Gastroenterology 2011年第41期17卷 4640-4642页

作者： Marcin Krawczyk Florentina Mihalache Aksana Hblinger Monica Acalovschi Frank Lammert Vincent Zimmer Department of Medicine Ⅱ Saarland University Medical Center Department of Medicine Ⅲ University Iuliu Hatieganu Department of Internal MedicineⅠ University Hospital Bonn

The aim of this study was to investigate an association between the development of cholangiocarcinoma(CCA)and the ABO variant rs505922(known to increase pan-creatic cancer risk)in a large cohort of European individuals with *** total,180 individuals with CCA and 350 CCA-free controls were *** ABO variant rs505922 was genotyped using a polymerase chain reaction-based *** between this single nucleotide polymorphism(SNP)and CCA was tested in contingency *** allele distributions nor association tests and regression analysis provided evidence for an increased risk of CCA among carriers of the ABO variant(all P > 0.05).Nevertheless,we documented a deviation from Hardy-Weinberg equilibrium in the entire CCA cohort(P = 0.028)and for patients with intrahe-patic(P = 0.037)but not extrahepatic tumor localization(P > 0.05).The association tests did not provide evidence for a prominent role of the investigated SNP in the genetic risk of ***,Hardy-Weinberg disequilibrium in the entire cohort and the intrahepatic CCA subgroup warrants future studies investigating a potential CCA risk modulation by individual blood groups.

关键词： ABO Biliary tract cancer Blood groups genetic risk Single nucleoUde polymorphism

Thrombotic complications post liver transplantation:Etiology and management

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World Journal of Critical Care Medicine 2024年第4期13卷 1-12页

作者： Swati Srivastava Iti Garg Defence Institute of Physiology and Allied Sciences Defence Research and Development organizationDelhi 110054India

Liver transplantation(LT)is the life saving therapeutic option for patients with acute and chronic end stage liver *** is a routine procedure with excellent outcomes in terms of patient survival and quality of life post *** LT(OLT)patients require a critical care as they are prone to variety of post-operative vascular,cardiovascular,biliary,pulmonary and abdominal *** complications(both arterial and venous)are not uncommon post liver transplant *** vascular problems lead to increased morbidity and mortality in both donor and graft *** thromboprophylaxis is recommended in general surgery patients,no such standards exist for liver transplant *** advancements of surgical and anesthetic procedures have improvised survival rates of patients post *** these,haemostatic imbalance leading to thrombotic events post OLT cause significant graft loss and morbidity and even lead to patient’s *** it is extremely important to understand pathophysiology of thrombosis in LT patients and shorten the timing of its diagnosis to avoid morbidity and mortality in both donor and graft *** review summarizes the current knowledge of vascular complications associated with LT to highlight their impact on short and long-term morbidity and mortality post ***,present report discusses the lacunae existing in the literature regarding the risk factors leading to arterial and venous thrombosis in LT patients.

关键词： Liver transplantation Thrombotic risk Arterial thrombosis Venous thrombosis genetic risk

Polymorphism in cardiovascular diseases(CVD)susceptibility loci in the azores islands(Portugal)

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Open Journal of genetics 2011年第3期1卷 48-53页

作者： Mafalda Raposo Paul Sousa Stefan Nemeth Ana Rita Couto Margarida Rodrigues Santos Joao Paulo Pinheiro Maria Joao Peixoto Christian Oberkanins Nadiya Kazachkova Teresa Cymbron Manuela Lima Jacome Bruges-Armas Center of Research in Natural Resources(CIRN)and Department of Biology University of the AzoresPonta DelgadaPortugal Specialized Service of Epidemiology and Molecular Biology(SEEBMO) Hospital of Santo EspiritoAngra do HeroismoPortugal Institute for Molecular and Cell Biology(IBMC) University of PortoPortoPortugal ViennaLab Diagnostics GmbH ViennaAustria

Background: Atherosclerosis and thrombosis are the major manifestations underlying cardiovascular diseases (CVD), which are the leading cause of mortality and morbidity worldwide. Both result from an interaction between genetic and environmental risk factors. The goal of our study was to evaluate several polymorphisms identified as predisposing factors to atherosclerosis and thrombosis. Material and Methods: A series of 155 healthy unrelated individuals of Azorean origin were analyzed using the CVD StripAssay (ViennaLab Diagnostics, Austria) for the most established polymorphisms involved in blood coagulation (F2, F5, F13A1, FGB), fibrinolitic system (SERPINE1), platelet adhesion (ITGB3), homocysteine metabolism (MTHFR), reninangio-tensin system (ACE) and lipid metabolism (APOE). Results: No significant differences were observed in allelic frequencies when comparing our data to mainland Portugal. Group stratification according to the number of “increased” risk alleles, demonstrated that 116/155 (75%) individuals belong to the moderate risk group (5 - 10 risk alleles). Conclusions: Although acknowledging the fact that the allelic states at the analysed loci lack predictive value, the fact that a high frequency of individuals presents at least 5 risk alleles (124/155;80%) is important for the establishment of the appropriate preventive measures in the Azorean population.

关键词： Atherosclerosis Thrombosis Cardiovascular Diseases Susceptibility Genes genetic risk Poly-morphism