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Chinese Medical Sciences Journal 2007年第1期22卷 27-32页

作者： Xing-jian Lin Ying-dong Zhang Qing-shan Guan Qing Di Jing-ping Shi Wei-guo Liu Department of Neurology Nanjing Brain Hospital Nanjing Medical University Nanjing 210029

Objective To analyze the role of resistin in insulin resistance (IR) through investigating the variation of plasma resistin levels and single-nucleotide polymorphisms (SNPs) in resistin gene 5’ flanking region in stroke *** In 103 atherothrombotic cerebral infarction (ACI) patients, 85 lacunar infarction (LI) patients, 70 intracerebral hemorrhage (ICH) patients, and 86 healthy controls, plasma resistin and insulin levels were measured by ELISA , SNPs in resistin gene 5’ flanking region were detected by PCR and direct DNA sequencing. The subjects’ body height and weight, the body mass index, quantitative insulin sensitivity check index (QUICKI), blood pressure, and the concentration of fasting plasma glucose, triglyceride, total cholesterol, creatinine, low-density lipoprotein, and high-density lipoprotein were also determined. Results QUICKI was significantly lower in the ACI and ICH patients (0.316±0.037 and 0.309±0.032, respectively) than that in the controls (0.342±0.043, PG and -537A>C SNPs were not significantly different among the different groups, and those SNPs were not correlated with other clinical and biochemical *** Plasma resistin is associated with stroke by participating in the development of IR. The SNPs in resistin gene 5’ flanking region has no impact on the plasma resistin level.

关键词： resistin insulin resistance single-nucleotide polymorphisms stroke

Allelic variation in the coumarate 3-hydroxylase gene associated with wood properties of Catalpa fargesii Bur.

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Journal of Forestry Research 2021年第6期32卷 2517-2529页

作者： Nan Lu Fang Mei Zhi Wang Nan Wang Yao Xiao Lisheng Kong Guanzheng Qu Wenjun Ma Junhui Wang Key Laboratory of Tree Genetics and Breeding Key Laboratory of Tree Breeding and Cultivation of State Forestry AdministrationResearch Institute of ForestryChinese Academy of ForestryBeijing 100091People’s Republic of China Department of Biology Centre for Forest BiologyUniversity of Victoria3800 Finnerty RoadVictoriaBCCanada State Key Laboratory of Tree Genetics and Breeding Northeast Forestry UniversityHarbin 150040People’s Republic of China

Coumarate 3-hydroxylase(C3h)genes participate in the synthesis of lignin and may affect the properties of wood that are important for its commercial value.A better understanding of the natural variation in C3h genes and their associations to wood properties is required to effectively improve wood *** used a candidate gene-based association mapping approach to identify CfC3h allelic variants associated with traits that affect the wood properties of Catalpa *** first isolated the full-length CfC3h cDNA(1825 bp),which was expressed at relatively high levels in xylem according to real time-polymerase chain *** totally,17 common single-nucleotide polymorphisms(minor allele frequency>5%)were identified through cloning and sequencing the CfC3h locus from a mapping population(including 88 unrelated natural *** individuals collected from main distribution area).nucleotide diversity and linkage disequilibrium(LD)in CfC3h indicate that CfC3h has low nucleotide diversity(π_(t)=0.0031 andθ_(w)=0.0103)and relatively low LD(within 1800 bp;r^(2)≥0.1).An association analysis identified eight common single-nucleotide polymorphisms(SNPs)(false discovery rate,Q<0.10)and ten haplotypes(Q<0.10)associated with wood properties,explaining 4.92-12.09%of the phenotypic variance in an association population consisted of 125 unrelated natural individuals(The 88 individuals from the mapping population were comprised in the association population).Our study would provide new insight into C3h gene affecting wood quality,and the SNP markers identified would have potential applications in marker-assisted breeding in the future.

关键词： Catalpa fargesii Coumarate 3-hydroxylase Haplotype-based association analyses Linkage disequilibrium single-nucleotide polymorphisms Wood properties

Reveal the Population Genetic Characteristics of Bombay Duck (Harpadon nehereus) in Coastal Waters of China with Genotyping-by-Sequencing Technique

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Journal of Ocean University of China 2022年第5期21卷 1373-1380页

作者： YANG Tianyan HUANG Xinxin JIANG Yanlin Fisheries College Zhejiang Ocean UniversityZhoushan 316022China Key Laboratory of Informatization of Habitat Monitoring and Fishery Resource Conservation Research in the East China Sea of Zhejiang Province Zhejiang Ocean UniversityZhoushan 316022China

Bombay duck(Harpadon nehereus)is an economically important species in the estuarine and coastal offshore waters of the Indo-West *** study aims to reveal the genome-wide genetic characteristics of five populations of *** from the coastal areas of China by using the genotyping-by-sequencing *** strict filtering,32088 high-quality single-nucleotide polymorphism markers were detected and *** average observed heterozygosity and expected heterozygosity ranged from 0.41651 to 0.56725 and from 0.30998 to 0.45531,respectively,indicating that heterozygosity excess occurred in *** *** nucleotide diversity ranged from 0.63664 to 0.74868,which was larger than those from other marine *** obvious genetic structure was detected among *** populations,and the genetic variation originated within *** gene exchange caused by longshore currents in the reproductive season might be the primary reason for the weak genetic *** various environmental factors,water temperature might be the key element affecting the genetic structure of *** to the destruction and overfishing of spawning grounds,the fishery resources declined in recent *** study could serve as a reference for the resource protection and rational utilization of ***.

关键词： Harpadon nehereus genotyping-by-sequencing population genetics single-nucleotide polymorphisms

Comprehensive profiling and natural variation of flavonoids in rice

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Journal of Integrative Plant Biology 2014年第9期56卷 876-886页

作者： Xuekui Dong Wei Chen Wensheng Wang Hongyan Zhang Xianqing Liu Jie Luo National Key Laboratory of Crop Genetic Improvement and National Center of Plant Gene Research(Wuhan) Huazhong Agricultural University Key Laboratory of Horticultural Plant Biology(Ministry of Education) Huazhong Agricultural University College of Life Science and Technology Huazhong Agricultural University

Flavonoids constitute a major group of plant phenolic *** extensively studied in Arabidopsis,profiling and naturally occurring variation of these compounds in rice（Oryza sativa）,the monocot model plant,are less *** a collection of rice germplasm,comprehensive profiling and natural variation of flavonoids were presented in this *** of a widely targeted metabolomics method facilitated the simultaneous identification and quantification of more than 90 flavonoids using liquid chromatography tandem mass spectrometry（LC-MS/MS）.Comparing flavonoid contents in various tissues during different developmental stages revealed tissue-specific accumulation of most *** investigation indicated that flavone mono-C-glycosides,malonylated flavonoid O-hexosides,and some flavonoid O-glycosides accumulated at significantly higher levels in indica than in japonica,while the opposite was observed for aromatic acylated flavone *** contrast to the highly differential accumulation between the two subspecies,relatively small variations within subspecies were detected for most ***,an association analysis between flavonoid accumulation and its biosynthetic gene sequence polymorphisms disclosed that natural variation of flavonoids was probably caused by sequence polymorphisms in the coding region of flavonoid biosynthetic *** work paves the way for future dissection of biosynthesis and regulation of flavonoid pathway in rice.

关键词： Flavonoids metabolic profiling natural variation Oryza sativa single-nucleotide polymorphisms

DEFB126 polymorphisms and association with idiopathic asthenozoospermia in China

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Asian Journal of Andrology 2022年第6期24卷 607-614页

作者： Jiao-Yu He Jian-Ying Peng Qiu-Fu Li Xiao-Li Lin Yan-Ru Cui Shi-Yu Ma Shi-Yun Fan Yi-Ran Liu Zhi-Lin Song Jun-Hang Deng Xia Wei Xian-Ping Ding Key Laboratory of Bio-Resources and Eco-Environment of Ministry of Education College of Life SciencesSichuan UniversityChengdu 610065China Chongqing Nanchuan Biotechnology Research Institute Bio-resource Research and Utilization Joint Key Laboratory of Sichuan and ChongqingChongqing 400000China

Idiopathic asthenozoospermia,a common factor in male infertility,is characterized by altered sperm motility function in fresh *** theβ-defensin 126(DEFB126)protein is associated with asthenozoospermia,DEFB126 gene polymorphisms have not been extensively ***,the association between DEFB126 gene polymorphisms and asthenozoospermia requires further *** was performed by semen analysis,karyotype analysis,and Y microdeletion detection,and 102 fertile men and 106 men with asthenozoospermia in Chengdu,China,were selected for DEFB126 gene sequence *** nucleotide mutations and two nucleotide deletions in the DEFB126 gene were ***11467417(317-318 del/del),rs11467497(163-166 wt/del),c.152T>C,and c.227A>G were significantly different between the control and asthenozoospermia groups,likely representing high-risk genetic factors for asthenozoospermia among ***126 expression was not observed in sperm with rs11467497 homozygous deletion and was unstable in sperm with rs11467417 homozygous *** rs11467497 four-nucleotide deletion leads to truncation of DEFB126 at the carboxy-terminus,and the rs11467417 binucleotide deletion produces a non-stop messenger RNA(mRNA).The above deletions may be responsible for male hypofertility and infertility by reducing DEFB126 affinity to sperm *** on in silico analysis,the amino acids 51M and 76K are located in the highly conserved domain;c.152T>C(M51T)and c.227A>G(K76R)are predicted to be damaging and capable of changing alternative splice,structural and posttranslational modification sites of the RNA,as well as the secondary structure,structural stability,and hydrophobicity of the protein,suggesting that these mutations are associated with asthenozoospermia.

关键词： β-defensin 126 idiopathic asthenozoospermia in silico analysis single-nucleotide polymorphisms

A comparison of genetic risk score with family history for estimating prostate cancer risk

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Asian Journal of Andrology 2016年第4期18卷 515-519页

作者： Brian T Helfand Division of Urology NorthShore University HealthSystem University of Chicago Pritzker School of Medicine 2650 Ridge Avenue Evanston IL 60201 USA.

Prostate cancer （PCa） testing is recommended by most authoritative groups for high-risk men including those with a family history of the disease. However, family history information is often limited by patient knowledge and clinician intake, and thus, many men are incorrectly assigned to different risk groups. Alternate methods to assess PCa risk are required. In this review, we discuss how genetic variants, referred to as PCa-risk single-nucleotide polymorphisms, can be used to calculate a genetic risk score （GRS）. GRS assigns a relatively unique value to all men based on the number of PCa-risk SNPs that an individual carries. This GRS value can provide a more precise estimate of a man＇s PCa risk. This is particularly relevant in situations when an individual is unaware of his family history. In addition, GRS has utility and can provide a more precise estimate of risk even among men with a positive family history. It can even distinguish risk among relatives with the same degree of family relationships. Taken together, this review serves to provide support for the clinical utility of GRS as an independent test to provide supplemental information to family history. As such, GRS can serve as a platform to help guide-shared decision-making processes regarding the timing and frequency of PCa testing and biopsies.

关键词： family history genetic risk score prostate cancer single-nucleotide polymorphisms

Association of MBOAT7 rs641738 polymorphism with hepatocellular carcinoma susceptibility:A systematic review and meta-analysis

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World Journal of Gastrointestinal Oncology 2023年第12期15卷 2225-2236页

作者： Min Lai Ya-Lu Qin Qiong-Yu Jin Wen-Jing Chen Jia Hu Department of Gastroenterology the Third Affiliated Hospital of Chengdu Medical College/Chengdu Pidu District People's HospitalChengdu 611730Sichuan ProvinceChina Department of Cardiology the Affiliated Third Hospital of Chengdu Traditional Chinese Medicine University/Chengdu Pidu District Hospital of Traditional Chinese MedicineChengdu 611730Sichuan ProvinceChina

BACKGROUND The MBOAT7 rs641738 single-nucleotide polymorphism(SNP)has been proven to influence various liver diseases,but its association with hepatocellular carcinoma(HCC)susceptibility has been *** address this discrepancy,we conducted the current systematic review and *** To perform a systematic review and meta-analysis on association of MBOAT7 SNP and HCC *** We performed a systematic review in PubMed,Web of Science,Scopus,and EMBASE;applied specific inclusion and exclusion criteria;and extracted the ***-analysis was conducted with the meta package in *** and subgroup analyses were also *** meta-analysis was registered in PROSPERO(CRD42023458046).RESULTS Eight studies were included in the systematic review,and 12 cohorts from 6 studies were included in the *** meta-analysis revealed an association between the MBOAT7 SNP and HCC susceptibility in both the dominant[odds ratio(OR):1.14,95%confidence interval(95%CI):1.02-1.26,P=0.020]and recessive(OR:1.21,95%CI:1.05-1.39,P=0.008)*** analysis revealed that stratification of the included patients by geographical origin showed a significant association in Asia(OR:1.20,95%CI:1.03-1.39).CONCLUSION This meta-analysis underscores the contribution of the MBOAT7 rs641738 SNP to hepatocarcinogenesis,especially in Asian populations,which warrants further investigation.

关键词： MBOAT7 single-nucleotide polymorphisms Hepatocellular carcinoma Systematic review Meta-analysis Asian populations

polymorphisms of micro RNA target genes IL12B, INSR, CCND1 and IL10 in gastric cancer

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World Journal of Gastroenterology 2017年第19期23卷 3480-3487页

作者： Vytenis Petkevicius Violeta Salteniene Simonas Juzenas Thomas Wex Alexander Link Marcis Leja Ruta Steponaitiene Jurgita Skieceviciene Limas Kupcinskas Laimas Jonaitis Gediminas Kiudelis Peter Malfertheiner Juozas Kupcinskas Department of Gastroenterology Lithuanian University of Health Sciences Institute for Digestive Research Lithuanian University of Health Sciences Department of Gastroenterology Hepatology and Infectious DiseasesOtto-von-Guericke University Medical Laboratory for Clinical Chemistry Microbiology and Infectious DiseasesDepartment of MolecularGeneticsOtto-von-Guericke University Institute for Clinical and Preventive Medicine University of Latvia Faculty of Medicine University of Latvia Riga East University Hospital

AIM To evaluate associations between mi RNA target genes IL12B,INSR,CCND1 and IL10 polymorphisms and gastric cancer(GC)in European *** Gene polymorphisms were analyzed in 508 controls and474 GC patients from 3 tertiary centers in Germany,Lithuania and *** were patients from the out-patient departments,who were referred for upper endoscopy because of dyspeptic symptoms and had no history of previous *** cancer(GC)patients had histopathological verification of gastric *** DNA was extracted using salting out method from peripheral blood mononuclear ***12B T>G(rs1368439),INSR T>C(rs1051690),CCND1 A>C(rs7177)and IL10 T>C(rs3024498)SNPs were genotyped by the real-time polymerase chain *** between gene polymorphism and GC were evaluated using multiple logistic regression analysis with adjustment for sex,age and country of *** We observed similar distribution of genotypes and allelic frequencies of all polymorphisms between GC patients and controls except of INSR *** frequency of the T allele of INSR gene was significantly higher in GC patients than in controls(23.26%and 19.19%respectively,P=0.028).CT genotype was also more prevalent in patients compared to control group(38.48%and 30.12%respectively,Ppolymorphisms in IL12B,CCND1 and IL10genes are not linked with the presence of GC.

关键词： Gastric cancer miRNA Target genes single-nucleotide polymorphisms

CYP1A1,CYP2E1 and EPHX1 polymorphisms in sporadic colorectal neoplasms

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World Journal of Gastroenterology 2016年第45期22卷 9974-9983页

作者： Glaucia Maria M Fernandes Anelise Russo Marcela Alcantara Proenca Nathalia Fernanda Gazola Gabriela Helena Rodrigues Patrícia Matos Biselli-Chicote Ana Elizabete Silva Joao Gomes Netinho érika Cristina Pavarino Eny Maria Goloni-Bertollo Genetics and Molecular Biology Research Unit-UPGEM Department of Molecular Biology Sao José do Rio Preto Medical School FAMERP Departament of Biology UNESP-Sao Paulo State University Departament of Surgery and Coloproctology Service Sao José do Rio Preto Medical School FAMERP

AIM To investigate the contribution of polymorphisms in the CYP1A1, CYP2E1 and EPHX1 genes on sporadic colorectal cancer(SCRC) risk. METHODS Six hundred forty-one individuals(227 patients with SCRC and 400 controls) were enrolled in the study. The variables analyzed were age, gender, tobacco and alcohol consumption, and clinical and histopathological tumor parameters. The CYP1A1 *2A, CYP1A1 *2C CYP2E1 *5B and CYP2E1 *6 polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The EPHX1 Tyr113 His, EPHX1 His139 Arg and CYP1A1 *2C polymorphisms were detected by real-time PCR. Chisquared test and binary logistic regression were used in the statistical analysis. Haplotype analysis was conducted using the Haploview program, version *** Age over 6 2 years was a risk factor for SCRC development(OR = 7.54, 95%CI: 4.94-11.50, P polymorphisms was associated with SCRC(P = 0.002). However, the CYP1A1 *2A, CYP1A1 *2C, EPHX1 Tyr113 His and EPHX1 His139 Arg polymorphisms were not associated with *** In conclusion, the

关键词： single-nucleotide polymorphisms Colorectal neoplasms Cytochrome P-450 CYP2E1 Cytochrome P-450 CYP1A1 Epoxide hydrolases 1

Pathogenesis of premature coronary artery disease:Focus on risk factors and genetic variants

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Genes & Diseases 2022年第2期9卷 370-380页

作者： Haiming Wang Zifan Liu Junjie Shao Min Jiang Xuechun Lu Lejian Lin Lin Wang Qiang Xu Haomin Zhang Xin Li Jingjing Zhou Yundai Chen Ran Zhang Department of Cardiovascular Medicine Chinese PLA General Hospital&Chinese PLA Medical SchoolBeijing 100853PR China The First Clinical Medical College of Inner Mongolia Medical University Hohhot 010059PR China Department of Hematology The Second Medical Center of Chinese PLA General Hospital&Chinese PLA Medical SchoolBeijing 100853PR China Department of Health Services The First Medical Center of Chinese PLA General Hospital&Chinese PLA Medical SchoolBeijing 100853PR China

The development of premature coronary artery disease(PCAD)is dependent on both genetic predisposition and traditional risk *** for unraveling the genetic basis of PCAD have evolved with the advent of modern ***-wide association studies(GWASs)have identified a considerable number of common genetic variants that are associated with *** of these genetic variants are attributable to lipid and blood pressure-related single-nucleotide polymorphisms(SNPs).The genetic variants that predispose individuals to developing PCAD may depend on race and *** characteristic genetic variants have been identified in Chinese *** translating this genetic knowledge into clinical applications is still challenging,these genetic variants can be used for CAD phenotype identification,genetic prediction and *** this article we will provide a comprehensive review of genetic variants detected by GWASs that are predicted to contribute to the development of *** will highlight recent findings regarding CAD-related genetic variants in Chinese populations and discuss the potential clinical utility of genetic variants for preventing and managing PCAD.

关键词： Genetic clinical applications Genetic variants Genome-wide association studies Premature coronary artery disease single-nucleotide polymorphisms