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genetic Variations and Nonalcoholic Fatty Liver Disease:Field Synopsis,Systematic Meta-Analysis,and Epidemiological Evidence

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Biomedical and Environmental Sciences 2024年第7期37卷 762-773页

作者： Yamei Li Xiang Xiao Jie Wang Yixu Liu Xiongfeng Pan Haibin Yu Jiayou Luo Miyang Luo Department of Epidemiology and Health Statistics School of Public HealthUniversity of South ChinaHengyang 421001HunanChina Department of Maternal and Child Health Xiangya School of Public HealthCentral South UniversityChangsha 410008HunanChina Supervision and Inspection Department of Shanghai Healthcare Security Bureau Shanghai 200003China Department of Epidemiology and Health Statistics Xiangya School of Public HealthCentral South UniversityChangsha 410008HunanChina

Objective To systematically summarize the published literature on the genetic variants associated with nonalcoholic fatty liver disease(NAFLD).Methods Literature from Web of Science,PubMed,and Embase between January 1980 and September 2022 was systematically ***-analyses of the genetic variants were conducted using at least five data *** epidemiologic credibility of the significant associations was graded using the Venice *** Based on literature screening,399 eligible studies were included,comprising 381 candidate gene association,16 genome-wide association,and 2 whole-exome sequencing *** identified 465 genetic variants in 173 genes in candidate gene association studies,and 25 genetic variants in 17 genes were included in the *** meta-analysis identified 11 variants in 10 genes that were significantly associated with NAFLD,with cumulative epidemiological evidence of an association graded as strong for two variants in two genes(HFE,TNF),moderate for four variants in three genes(TM6SF2,GCKR,and ADIPOQ),and weak for five variants in five genes(MBOAT7,PEMT,PNPLA3,LEPR,and MTHFR).Conclusion This study identified six variants in five genes that had moderate to strong evidence of an association with NAFLD,which may help understand the genetic architecture of NAFLD risk.

关键词： Nonalcoholic fatty liver disease genetic association study genetic variant Systematic review Meta-analysis

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association of polymorphisms in the DCDC2 gene with developmental dyslexia in the Han Chinese

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Chinese Medical Journal 2012年第4期000卷 622-625页

作者： Zuo Peng-xiang Wu Han-rong Li Zeng-chun Cao Xu-dong Pang Li-juan Yang Lan Liu Fan Zhao Feng Xinjiang Shihezi Univ Coll Med Shihezi 832002 Xinjiang Peoples R China Huazhong Univ Sci & Technol Dept Child & Adolescent Hlth Coll Publ Hlth Wuhan 430030 Hubei Peoples R China

Background genetic association studies on populations of European origin have identified the DCDC2 gene as a susceptibility locus for developmental ***,we sought to investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han Chinese *** We undertook a case-control genetic association study on 76 dyslexic children and 79 non-dyslexic matched *** isolated DNA from oral mucosal cell samples and genotyped two DCDC2 coding-sequence single nucleotide polymorphisms,rs2274305 and rs6456593,in each sample using SNaPshot single nucleotide *** compared the allele and genotype frequencies between the groups using the X2 test and analyzed the relationship between dyslexia and the polymorphism at both loci using unconditional logistic *** also predicted haplotypes and compared their frequencies between the two *** The differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene,rs2274305 and rs6456593,between the two dyslexic and non-dyslexic groups were statistically meaningless （P 〉0.05）.The differences in the haplotype distributions of the DCDC2 gene between the dyslexic and normal group were statistically meaningless （P 〉0.05）.Conclusion The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han ***,methodological issues may have prevented the detection of oositive associations.

关键词： DCDC2 case-control genetic association study

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A common variation within the STEAP4 gene exons is associated with obesity in Uygur general population

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Chinese Medical Journal 2011年第14期124卷 2096-2100页

作者： GUO Yan-ying LI Nan-fang ZHOU Ling YAO Xiao-guang WANG Hong-mei ZHANG Ju-hong LUO Wen-li Hypertension Center People's Hospital of Xinjiang Uygur Autonomous Region Hypertension Institute of Xinjiang UrumqiXinjiang 830001China

Background Coordinated regulation of nutrient and inflammatory responses by six transmembrane epithelial antigen of prostate 4 （STEAP4） was essential for metabolic homeostasis. STEAP4 expression in human white adipose tissuewas associated with obesity. This study aimed to evaluate association between STEAP4 genetic polymorphisms and obesity in Uygur Chinese general *** The functional regions of STEAP4 gene were sequenced in 96 Uygur with obesity （body mass index （BMI）〉30 kg/m2）. Representative variations were selected according to the function and linkage disequilibrium and genotyped in 1507 obesity （BMI ≥25 kg/m2） and 825 non-obesity control （BMI ＜25 kg/m2）, all of whom were selected from epidemiology study of obesity-related diseases during January to February 2007 among Uygur population in Hetian area of Xinjiang Uygur Autonomous *** Fourteen novel and 6 known single nucleotide polymorphism （SNPs）, including 2 nonsynonymous SNPs （nsSNPs）, in the STEAP4 gene were identified. Of the 3 representative SNPs, the nsSNP rs1981529 （Gly75Asp, 224A/G）was significantly associated with obesity phenotype （additive P/Pc=0.001/0.006, dominant P/Pc=0.003/0.018, odds ratio （OR） and 95％ confidence interval （CI） adjusted for age, gender and drinking 0.755 （0.641-0.890） and 0.750（0.621-0.907）, respectively）. By the multiple linear regression analysis, the quantitative phenotypes of BMI （P/Pc=0.002/0.004） and waist circumference （P/Pc=0.004/0.008） were found to be significantly associated with the genotypes of rs1981529 （Gly75Asp, 224A/G） in Uygur general population, and effect size （beta value） of one allele G of rs1981529 （Gly75Asp, 224A/G） was-0.553 kg/m2 for BMI and -1.311 cm for waist circumference after controlling age,gender and drinking *** The present study shows an association of the common variation rs1981529 （Gly75Asp, 224A/G） in the STEAP4 gene with obesity in Uygur general population. Further studies should replicate the results

关键词： genetic epidemiology genetic association study obesity Uygur

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An Adaptive Weighted Sum Test for Family-Based Multi-Marker association Studies

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Open Journal of genetics 2016年第4期6卷 61-73页

作者： Renfang Jiang Jianping Dong Yilin Dai Department of Mathematical Sciences Michigan Technological University Houghton USA

Backgrounds: Although many disease-associated common variants have been discovered through genome-wide association studies, much of the genetic effects of complex diseases have not been explained. Population-based association studies are vulnerable to population stratification. A possible solution is to use family-based tests. However, if tests only estimate the genetic effect from the within-family variation to avoid population stratification, they may ignore the useful genetic information from between-family variation and lose power. Methods: We have developed an adaptive weighted sum test for family-based association studies. The new test uses data driven weights to combine two test statistics, and the weights measure the strength of population stratification. When population stratification is strong, the proposed test will automatically put more weight on one statistic derived from within-family variation to maintain robustness against spurious positives. On the other hand, when the effect of population stratification is relatively weak, the proposed test will automatically put more weight on the other statistic derived from both within-family and between-family variation to make use of both sources of genetic variation;and at the same time, the degrees of freedom of the test will be reduced and power of the test will be increased. Results: In our study, the proposed method achieves a higher power in most scenarios of linkage disequilibrium structure as well as Hap Map data from different genes under different population structures while still keeping its robustness against population stratification.

关键词： Family Data genetic association study Population Stratification

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ORMDL3 contributes to the risk of atherosclerosis in Chinese Han population and mediates oxidized low-density lipoproteininduced autophagy in endothelial cells

ORMDL3 contributes to the risk of atherosclerosis in Chinese...

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第十四次全国医学遗传学学术会议

作者： Xiaochun Ma Rongfang Qiu Jie Dang Jiangxia Li Shan Shan Qian Xin Xianli Bian Chengwei Zou Yaoqin Gong Qiji Liu The Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical genetics Shandong University School of Medicine Department of Medical genetics Shandong University School of Medicine Department of Cardiac Surgery Shandong Provincial Hospital affiliated to Shandong University

ORMDL sphingolipid biosynthesis regulator 3(ORMDL3)is a universally confirmed susceptibility gene for asthma and has recently emerged as a crucial modulator in lipid metabolism,inflammation and endoplasmic reticulum(ER)stress-the mechanisms also closely involved in atherosclerosis(AS).Here we first presented the evidence of two single nucleotide polymorphisms regulating ORMDL3 expression(rs7216389 and rs9303277)significantly associated with AS risk and the evidence of increased ORMDL3expression in AS cases compared to controls,in Chinese Han *** the detection of its statistical correlation with AS,we further explored the functional relevance of ORMDL3 and hypothesized a potential role mediating autophagy as autophagy is activated upon modified lipid,inflammation and ER *** results demonstrated that oxidized low-density lipoprotein(ox-LDL)up-regulated ORMDL3 expression and knockdown of ORMDL3 alleviated not only ox-LDL-induced but also basal autophagy in human umbilical vein endothelial cells(HUVECs).BECN1 is essential for autophagy initiation and silencing of ORMDL3 suppressed ox-LDL-induced as well as basal *** addition,deletion of ORMDL3 resulted in greater sensitivity to ox-LDLinduced cell *** together,ORMDL3 might represent a causal gene mediating autophagy in the pathogenesis of AS.

关键词： ORMDL Sphingolipid Biosynthesis Regulator 3 Single Nucleotide Polymorphisms genetic association study Atherosclerosis Oxidized Low-Density Lipoprotein Autophagy Apoptosis BECN1

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