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Helicobacter pylori and cytokine gene variants as predictors of premalignant gastric lesions 被引量:13
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作者 Anca Negovan Mihaela Iancu +1 位作者 Emoke Fulop Claudia Banescu 《World Journal of Gastroenterology》 SCIE CAS 2019年第30期4105-4124,共20页
Gastric cancer remains the third leading cause of mortality from cancer worldwide and carries a poor prognosis,due largely to late diagnosis.The importance of the interaction between Helicobacter pylori(H.pylori)infec... Gastric cancer remains the third leading cause of mortality from cancer worldwide and carries a poor prognosis,due largely to late diagnosis.The importance of the interaction between Helicobacter pylori(H.pylori)infection,the main risk factor,and host-related genetic factors has been studied intensively in recent years.The genetic predisposition for non-hereditary gastric cancer is difficult to assess,as neither the real prevalence of premalignant gastric lesions in various populations nor the environmental risk factors for cancer progression are clearly defined.For non-cardiac intestinal-type cancer,identifying the factors that modulate the progression from inflammation toward cancer is crucial in order to develop preventive strategies.The role of cytokines and their gene variants has been questioned in regard to non-self-limiting H.pylori gastritis and its evolution to gastric atrophy and intestinal metaplasia;the literature now includes various and non-conclusive results on this topic.The influence of the majority of cytokine single nucleotide polymorphisms has been investigated for gastric cancer but not for preneoplastic gastric lesions.Among the investigated gene variants onlyIL10T-819C,IL-8-251,IL-18RAP917997,IL-22 rs1179251,IL1-B-511,IL1-B-3954,IL4R-398 and IL1RN were identified as predictors for premalignant gastric lesions risk.One of the most important limiting factors is the inhomogeneity of the studies(e.g.,the lack of data on concomitant H.pylori infection,methods used to assess preneoplastic lesions,and source population).Testing the modifying effect of H.pylori infection upon the relationship between cytokine gene variants and premalignant gastric lesions,or even testing the interaction between H.pylori and cytokine gene variants in multivariable models adjusted for potential covariates,could increase generalizability of results. 展开更多
关键词 Helicobacter pylori GASTRITIS PREMALIGNANT Glandular atrophy Intestinal metaplasia Single-nuclear polymorphism gene variants INTERLEUKINS
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Interleukin-17A gene variants and risk of coronary artery disease:a large angiography-based study 被引量:8
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作者 ZHANG Xiao-lin,PEI Fang,HAN Ya-Ling,YAN Cheng-Hui, HUANG Ming-Fang,WANG Tao (Department of Cardiology,Cardiovascular Institute of PLA, Shenyang Northern Hospital,Shenyang 110031,China) 《岭南心血管病杂志》 2011年第S1期150-151,共2页
Background Recent studies have also revealed that interleukin(IL)-17A plays a key role in atherosclerosis and its complication,but the relationship of its common variants with coronary artery disease(CAD) has not been... Background Recent studies have also revealed that interleukin(IL)-17A plays a key role in atherosclerosis and its complication,but the relationship of its common variants with coronary artery disease(CAD) has not been extensively studied.Methods We systematically screened sequence variations in the IL17A gene and designed an angiog-raphy -based case-controlled study consisting of 1031 CAD patients and 935 control subjects to investigate the association between the selected polymorphisms of IL-17A gene and CAD risk in Chinese Han population.Results Frequencies of IL17A rs8193037 GG homozygote and G allele were significantly higher in the patient group than those in the control group(P【0.001;OR=0.68;95%CI=0.54-0.85).Stratification analysis showed that the IL17A rs8193037 G allele significantly increased the risk of CAD only among male subjects (P=0.001;OR=0.63;95%CI=0.47-0.83).After adjustment for conventional risk factors,binary logistic regression analysis showed that the G allele carriers(GG +AG) had significantly increased CAD risk compared with the AA homozygotes (adjusted P【0.001;OR 0.43;95%CI,0.33- 0.58).ELISA showed augmented IL17A production in plasma of the AMI patients.Conclusions Based on our data,we speculated that the SNP rs8193037 of IL17A gene is significantly associated with CAD risk in Chinese Han population and the rs8193037 G allele which is associated with increased expression of IL17A in AMI patients may be an independent predictive factor for CAD. 展开更多
关键词 gene Interleukin-17A gene variants and risk of coronary artery disease CAD
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Role of inflammatory gene variants in Helicobacter pylori-related gastric cancer
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作者 Miao Li Jun Li +3 位作者 Zhaozhen Qi Qiu Tang Xiangyang Wang Hongda Lu 《Oncology and Translational Medicine》 CAS 2015年第3期104-108,共5页
Helicobacter pylori-related gastric cancer results from a chronic inflammatory process that arises from atrophic gastritis, and develops into intestinal metaplasia, hyperplasia, and eventually gastric adenocarcinoma. ... Helicobacter pylori-related gastric cancer results from a chronic inflammatory process that arises from atrophic gastritis, and develops into intestinal metaplasia, hyperplasia, and eventually gastric adenocarcinoma. Although approximately half of the world's population is infected with Helicobacter pylori (H. pylori), less than 3% of these infected individuals develop gastric cancer. H. pylori infection can cause both acute and chronic inflammation, and may be present for decades within its host. Inflammatory gene variants are particularly important factors that may influence a host's susceptibility to H. pylori-related gastric cancer. The inflammatory gene variants uncovered thus far include interleukin gene clusters, tumor necrosis fac- tor-e, Toll-like receptors (TLRs), and inflammatory gene polymorphisms found in genome-wide association studies (GWAS). The association between these gene variants and the risk of H. pylori-related gastric cancer will aid in our understanding of the pathogenesis of gastric cancer in order to prevent and defeat this malignancy. 展开更多
关键词 Helicobacter pylori (H. pylori) gastric cancer gene variant INFLAMMATORY
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Association of genetic variants with diabetic nephropathy 被引量:23
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作者 Saliha Rizvi Syed Tasleem Raza Farzana Mahdi 《World Journal of Diabetes》 SCIE CAS 2014年第6期809-816,共8页
Diabetic nephropathy accounts for the most serious microvascular complication of diabetes mellitus. It is suggested that the prevalence of diabetic nephropathy will continue to increase in future posing a major challe... Diabetic nephropathy accounts for the most serious microvascular complication of diabetes mellitus. It is suggested that the prevalence of diabetic nephropathy will continue to increase in future posing a major challenge to the healthcare system resulting in increased morbidity and mortality. It occurs as a result of interaction between both genetic and environmental factors in individuals with both type 1 and type 2 diabetes. Genetic susceptibility has been proposed as an important factor for the development and progression of diabetic nephropathy, and various research efforts are being executed worldwide to identify the susceptibility gene for diabetic nephropathy. Numerous single nucleotide polymorphisms have been found in various genes giving rise to various gene variants which have been found to play a major role in genetic susceptibility to diabetic nephropathy. The risk of developing diabetic nephropathy is increased several times by inheriting risk alleles at susceptibility loci of various genes like ACE, IL, TNF-α, COL4A1, e NOS, SOD2, APOE, GLUT, etc. The identification of these genetic variants at a biomarker level could thus, allow the detection of those individuals at high risk for diabetic nephropathy which could thus help in the treatment, diagnosis and early prevention of the disease. The present review discusses about the various gene variants found till date to be associated with diabetic nephropathy. 展开更多
关键词 Diabetes mellitus Diabetic nephropathy genetic polymorphism gene variants NEPHROPATHY
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Genetic Variants in the ELOVL5 but not ELOVL2 Gene Associated with Polyunsaturated Fatty Acids in Han Chinese Breast Milk 被引量:5
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作者 LI Xiang GAN Zhen Wei +6 位作者 DING Zhen WU Yi Xia CHEN Xue Yan TIAN Hui Min LIU Guo Liang YANG Ye Tong XIE Lin 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2017年第1期64-67,共4页
The present study was designed to examine the contributions of the fatty acid elongase (ELOVL) gene polymorphisms to the levels of polyunsaturated fatty acids (PUFAs) in breast milk. Two hundred and nine healthy H... The present study was designed to examine the contributions of the fatty acid elongase (ELOVL) gene polymorphisms to the levels of polyunsaturated fatty acids (PUFAs) in breast milk. Two hundred and nine healthy Han Chinese mothers were included in the study. Carriers of minor alleles of SNPs (rs2397142 and rs9357760) in ELOVL5 were associated with higher levels of linoleic acid (LA), dihomo-γ-linolenic acid (DGLA), arachidonic acid (AA), docosatetraenoic acid (DTA), docosahexenoic acid (DHA), while in rs209512 of ELOVL5 the carriers of minor alleles had lower levels of DTA compared to major homozygote alleles (P ranged from 0.004-0.046), and genetically explained variability ranged from 3.2% for eicosapentaenoic acid (EPA) to 6.0% for LA. Our findings demonstrated that common variation in ELOVL5 gene encoding rate-limiting enzymes in the metabolism of PUFAs contribute to the PUFAs in breast milk. 展开更多
关键词 PUFAS genetic variants in the ELOVL5 but not ELOVL2 gene Associated with Polyunsaturated Fatty Acids in Han Chinese Breast Milk
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Common genetic variations in CLOCK transcription factor are associated with nonalcoholic fatty liver disease 被引量:5
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作者 Silvia Sookoian Gustavo Castao +2 位作者 Carolina Gemma Tomas Fernández Gianotti Carlos Jose Pirola 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第31期4242-4248,共7页
To investigate the role of gene variants and derived haplotypes of the CLOCK transcription factor in nonalcoholic fatty liver disease (NAFID) and their relation with the disease severity.METHODS: A total of 136 pat... To investigate the role of gene variants and derived haplotypes of the CLOCK transcription factor in nonalcoholic fatty liver disease (NAFID) and their relation with the disease severity.METHODS: A total of 136 patients with NAFLD and 64 healthy individuals were studied. Liver biopsy was performed in 91 patients. Six tag SNPs showing a minor allele frequency 〉 10% (rs1554483 C/G; rs11932595 A/G; rs4580704 C/G; rs6843722 A/C; rs6850524 C/G and rs4864548 A/G) encompassing 117 kb of chromosome 4 and representing 115 polymorphic sites (P 〉 0.8) were genotyped. RESULTS: rs11932595 and rs6843722 showed significant associations with NAFLD (empiric P = 0.0449 and 0.023, respectively). A significant association was also observed between clinical or histologic spectrum of NAFLD and rs1554483 (empiric P = 0.0399), rs6843722 (empiric P = 0.0229) and rs6850524 (empiric P = 0.00899) and between fibrosis score and rs1554483 (empiric P = 0.02697), rs6843722 (empiric P = 0.01898) and rs4864548 (empiric P = 0.02697). Test of haplotypic association showed that CLOCK gene variant haplotypes frequencies in NAFLD individuals significantly differed from those in controls (empiric P = 0.0097).CONCLUSION: Our study suggests a potential role of the CLOCK polymorphisms and their haplotypes insusceptibility to NAFLD and disease severity. 展开更多
关键词 Circadian rhythm Circadian Iocomoter outputcycles protein kaput gene variants Haplotypes Fattyliver Liver disease OBESITY Nonalcoholic steatohepatitis
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Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy 被引量:4
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作者 Silvia Sookoian Gustavo Castao Carlos J Pirola 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第13期2126-2127,共2页
The pathogenesis of intrahepatic cholestasis of pregnancy (ICP), a disorder that adversely affects maternal wellbeing and fetal outcome, is unclear. However, multiple factors probably interact along with a genetic pre... The pathogenesis of intrahepatic cholestasis of pregnancy (ICP), a disorder that adversely affects maternal wellbeing and fetal outcome, is unclear. However, multiple factors probably interact along with a genetic predisposition. We would like to add some comments on a paper recently published concerning the role of ABCB11 and ABCC2 polymorphisms in both ICP and contraceptive-induced cholestasis, especially in the light of our recently published findings about a positive association between ICP and ABCC2 common variants. 展开更多
关键词 Intrahepatic cholestasis of pregnancy ABCC2 MRP2 gene variants
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Genetic variations of beta 2-adrenergic receptor gene are associated with essential hypertension in Xinjiang Kazakans
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作者 Zhi-Tao Yan Nan-Fang Li Jin Yang Ling Zhou Hui Liu Qin Luo 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2010年第1期52-57,共6页
Objective The aims of the present study were to investigate the associations of 46 A〉G, 79 C〉G, 491 C〉T and 659 C〉G genetic variants of the human beta 2-adrenergic receptor (β2-AR), ADRB2, gene with essential h... Objective The aims of the present study were to investigate the associations of 46 A〉G, 79 C〉G, 491 C〉T and 659 C〉G genetic variants of the human beta 2-adrenergic receptor (β2-AR), ADRB2, gene with essential hypertension (EH) in Xinjiang Kazakans population.Methods A gender-matched case-control (271 hypertensive cases and 267 normotensive controls) study was used to investigate the associations of the four variations in the coding region of ADRB2 with EH. The genotypes of the variants were identified by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) methods. Results 46 A〉G, 79 C〉G and 659 C〉G polymorphisms were common in the Kazakan population, but 491 C〉T was a mutation (frequency ofT allele was only 0.003) and only found in EH group. The fxequency distributions of genotypes and alleles for 659 C〉G between the EH and control groups was significantly different (P〈0.05), while those for 46 A〉G and 79 C〉G polymorphisms were not statistically different. Logistic regression analysis suggested that the G allele of 659 C〉G polymorphism was a risk factor for hypertension (minor allele vs common homo; odds ratio, 13.240, 95% CI, 4.052-43.274; P〈0.05). Covariance analysis showed that systolic and diastolic blood pressure levels in GG+CG group of 659 C〉G were significantly higher than those in the CC group, but no significant difference of blood pressure were found between common homo and minor allele for 46 A〉G and 79C〉G polymorphisms. Haplotype analysis showed that two hyplotypes, HI: 46A-79C-491C-523C(48%)and H5:46A-79C-491C-659G, were associated with EH.Conelusion ADRB2 genetic variants may play independent roles in the molecular genetic mechanism of EH in Xinjiang Kazakans population (d Geriatr Cardio12010; 7:52-57). 展开更多
关键词 β2-adrenergic receptor gene variant essential hypertension HAPLOTYPE Xinjiang Kazakan
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Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature 被引量:3
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作者 Mariano Piazzolla Nicola Castellaneta +7 位作者 Antonio Novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo 《World Journal of Hepatology》 2020年第2期64-71,共8页
BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly pro... BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field. 展开更多
关键词 Benign recurrent intrahepatic cholestasis ATP8B1/ABCB11 genes Jaundice Heterozygous variant of ATP8B1 gene(c.1558A>T) Familial inheritance Case report
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The Hemochromatosis Distribution in Matera Province: A New SNP to Explain the Low Genotype-Phenotype Correlation
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作者 Maria Carmela Padula Marilena Larocca Rocco Rossano Luigi Milella Domenico Dell'Edera Giuseppe Martelli 《Journal of Life Sciences》 2012年第5期469-475,共7页
The present study aims to investigate the genotype-phenotype correlation of the hereditary hemochromatosis (HH), a genetic disorder of iron metabolism, in Matera province (Basilicata, Italy). Integrating both epid... The present study aims to investigate the genotype-phenotype correlation of the hereditary hemochromatosis (HH), a genetic disorder of iron metabolism, in Matera province (Basilicata, Italy). Integrating both epidemiological and molecular approaches, the authors studied: (a) the frequency of the HH main mutations; (b) the association between mutations and HH cases. The majority of patients with HH are homozygous for the C282Y mutation of the HFE gene. A second mutation (H63D) is more widely distributed and its connection with HH isn't clear, but a low penetrance is attributed to this variant. The population-based study consists of three steps: (1) determination of iron biochemical parameters, (2) genetic test, and (3) sequencing of HFE gene and bioinformatics studies. A case report is presented in a 41-year-old male (genotype: H63D/wt) with biochemical and clinical evidences of HH, in absence of secondary iron overload factors. In the cohort of studied patients (150M:62F), there are 18 homozygous patients; H63D/H63D genotype is found in 11 cases. In the heterozygous group, H63D/wt is the predominant genotype (61/68 subjects). All the H63D/wt residents in the same village (Mont.) show altered biochemical parameter levels. In our case study, a substitution localized into the HFE promoter (nt225A 〉 C) is found. Results show that the H63D genotype is responsible for most cases of HH. The peculiar clinical manifestation found in Mont. suggests a founder effect. In our case, the iron overload is related to a presence of an undetected mutation, critical for the transcriptional regulation of the HFE gene. 展开更多
关键词 Hereditary hemochromatosis HFE gene variants clinical phenotype transcriptional regulation.
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Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome
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作者 Qi Zhang Liping Zou +3 位作者 Qian Lu Qiuhong Wang Shuo Dun Jing Wang 《Acta Epileptologica》 2024年第1期67-73,共7页
Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile ep... Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile epilepsy spasm syndrome(IESS)is extremely rare.Case presentation The case presented here was a 22-month-old boy,who presented with IESS and psychomotor retardation/regression at 6 months of age.The patient showed progressive aggravation of seizures and excessive startle responses.The whole exome sequencing data,which initially revealed negative results,were reanalyzed and indicated a homozygous mutation at the c.1613+4del splice site of the HEXB gene.The activities ofβ-hexosaminidase A and total hexosaminidase were significantly decreased.The fundus examination showed cherry red spots at the macula.Conclusions IESS can be an epileptic phenotype of infantile SD.Clinical phenotypes should be adequately collected in genetic testing.In the case of negative sequencing results,gene variant reanalysis can be performed when the patients show clinically suspicious indications. 展开更多
关键词 Infantile Sandhoff disease gene variant reanalysis HEXB gene Infantile epilepsy spasm syndrome Cherry red spot Human phenotype ontology
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Brugada syndrome:a fatal disease with complex genetic etiologies–still a long way to go 被引量:1
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作者 Yeda Wu Mei Ai +8 位作者 Adham Sameer A.Bardeesi Lunwu Xu Jingjing Zheng Da Zheng Kun Yin Qiuping Wu Liyong Zhang Lei Huang Jianding Cheng 《Forensic Sciences Research》 2017年第3期115-125,共11页
Brugada syndrome(BrS)is an arrhythmogenic disorder which was first described in 1992.This disease is a channelopathy characterized by ST-segment elevations in the right precordial leads and is susceptible to sudden de... Brugada syndrome(BrS)is an arrhythmogenic disorder which was first described in 1992.This disease is a channelopathy characterized by ST-segment elevations in the right precordial leads and is susceptible to sudden death.BrS is a fatal disease with gender and age preferences.It occurs mainly in young male subjects with a structurally normal heart and silently progresses to sudden death with no significant symptoms.The prevalence of BrS has been reported in the ranges of 5-20 per 10000 people.The disease is more prevalent in Asia.Nowadays,numerous variations in 23 genes have been linked to BrS since the first gene SCN5A has been associated with BrS in 1998.Not only can clinical specialists apply these discoveries in risk assessment,diagnosis and personal medicine,but also forensic pathologists can make full use of these variations to conduct death cause identification.However,despite the progress in genetics,these associated genes can only account for approximately 35%of the BrS cases while the etiology of the remaining BrS cases is still unexplained.In this review,we discussed the prevalence,the genes associated with BrS and the application of molecular autopsy in forensic pathology.We also summarized the present obstacles,and provided a new insight into the genetic basis of BrS. 展开更多
关键词 Brugada syndrome PREVALENCE geneTICS gene variants sudden death
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Genetic detection of congenital heart disease 被引量:1
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作者 Sumathi I.Rachamadugu Kristen A.Miller +1 位作者 Ina H.Lee Ying S.Zou 《Gynecology and Obstetrics Clinical Medicine》 2022年第3期109-123,共15页
Congenital heart disease(CHD)is the most common congenital anomaly and is an important cause of infant morbidity and mortality.Besides the epigenetic and environmental basis of CHD,genetics plays a central role in CHD... Congenital heart disease(CHD)is the most common congenital anomaly and is an important cause of infant morbidity and mortality.Besides the epigenetic and environmental basis of CHD,genetics plays a central role in CHD pathogenesis.Traditional genetic testing strategies including conventional chromosome analysis,fluorescence in situ hybridization,and Sanger sequencing have largely focused on syndromic CHD or selected CHD phenotypes that are strongly associated with a particular genotype.The landscape of clinical genetic testing in CHD is rapidly evolving due to technical advances in genetic testing,including the identification of copy number variants by chromosomal microarray and nucleotide level alterations/variants by next-generation sequencing(NGS),which are essential to detect genetic causes of CHD and identify associations between genotypes and longitudinal clinical phenotypes.Whole-exome and whole-genome NGS not only reveal pathogenic variants in CHD genes,but also identify non-coding variants that influence the expression of CHD genes.Given the increasing availability and cost-effectiveness of clinical NGS to provide information on the causes of CHD and to detect incidental findings that are clinically actionable,the guidance of genetic counselors or experienced clinicians is essential.The identification of definitive causal CHD variants influences patient care and helps to inform the risk of recurrence,prenatal genetic counseling,and pre-implantation testing for the family of a CHD infant and adults with repaired/palliated CHD.Prenatally,circulating cell-free DNA screening as a non-invasive approach is available as early as 9 weeks of gestation and can screen for the common aneuploidies,which may underlie CHD.In this review,we present past and recent genetic testing in CHD based on our increased understanding of the pathogenesis of CHD along with current challenges with the interpretation of de novo genetic variants.Identification of a genetic diagnosis can help to predict and potentially improve clinical outcomes in CHD patients. 展开更多
关键词 Congenital heart disease Next generation sequencing Whole-genome sequencing Circulating cell-free DNA Screening gene variant
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Defects in phospholipase C zeta cause polyspermy and low fertilization after conventional IVF:not just ICSI failure
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作者 Jian-Fang Che Hui-Xia Wu +7 位作者 Si-Cong Zeng Yue-Ren Wu Jing Dai De-Hua Cheng Fei Gong Guang-Xiu Lu Ge Lin Can Dai 《Asian Journal of Andrology》 SCIE CAS CSCD 2024年第2期175-182,共8页
Phospholipase C zeta(PLC)is a key sperm-borne oocyte-activating factor that triggers Ca^(2+)oscillations and the subsequent block to polyspermy following gamete fusion.Mutations in PLCZ1,the gene encoding PLCζ,cause ... Phospholipase C zeta(PLC)is a key sperm-borne oocyte-activating factor that triggers Ca^(2+)oscillations and the subsequent block to polyspermy following gamete fusion.Mutations in PLCZ1,the gene encoding PLCζ,cause male infertility and intracytoplasmic sperm injection(ICSI)fertilization failure;and PLCζ expression and localization patterns are significantly correlated with ICSI fertilization rate(FR).However,in conventional in vitro fertilization(cIVF),whether and how sperm PLCζ affects fertilization remain unclear.Herein,we identified one previously reported and two novel PLCZ1 mutations associated with polyspermy in vitro that are characterized by excessive sperm-zona binding and a delay in pronuclei(PN)formation.Immunofluorescence staining and oocyte activation testing revealed that virtually all spermatozoa from patients lacked functional PLCζ and were thus unable to evoke Ca^(2+) oscillations.ICSI with an artificial oocyte activation treatment successfully rescued the polyspermic phenotype and resulted in a live birth.Furthermore,we analyzed PLCζ in an additional 58 males after cIVF treatment in the Reproductive and Genetic Hospital of CiTiC-Xiangya(Changsha,China)between February 2019 and January 2022.We found that the proportion of spermatozoa that expressed PLCζ was positively correlated with both 2PN rate and total FR.The optimal cutoff value below which males were likely to experience low FR(total FR≤30%)after clVF was 56.7%for the proportion of spermatozoa expressing PLC5.Our study expands the mutation and the phenotypic spectrum of PLCZ1 and further suggests that PLCζ constitutes a promising biomarker for identifying low FRs cases in cIVF due to sperm-related oocyte activation deficiency and that sperm PLCζ analysis may benefit the widermale population and not onlymen with IcsI failure. 展开更多
关键词 conventional IVF gene variants PLCζ POLYSPERMY
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Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic
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作者 Shun Bai Ming-Zhen Li +10 位作者 Yang-Yang Wan Xue-Chun Hu Yi-Xun Liu Xian-Hong Tong Tong-Hang Guo Lu Zong Ran Liu Yuan-Qi Zhao Ping Xiang Bo Xu Xiao-Hua Jiang 《Asian Journal of Andrology》 SCIE CAS CSCD 2024年第1期41-45,共5页
Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains un... Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains unclear.In this study,we recruited 1254 participants who underwent ED assessed by the International Index of Erectile Function-5.The MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction(PCR).No significant difference in the genotypic frequency of the MTHFR C677T polymorphism(CC,CT,and TT)was observed between men from the ED and non-ED groups.In addition,on binary logistic regression analysis,both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T polymorphism.Interestingly,a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED(P=O.02).The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis,even after adjusting for potential confounders(odds ratio[OR]=2.46,95%confidence interval[CI]:1.15-5.50,P=0.02).These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe ED.Identification of MTHFR gene polymorphisms may provide complementary information for ED patients during routineclinicaldiagnosis. 展开更多
关键词 erectile dysfunction gene variant genetic risk factors methylenetetrahydrofolate reductase sexual function
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Disorders of organic acid metabolism and epilepsy
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作者 Yuqing Shi Zihan Wei +3 位作者 Yan Feng Yajing Gan Guoyan Li Yanchun Deng 《Acta Epileptologica》 2024年第3期165-177,共13页
Epilepsy can be caused by a variety of causes,such as inborn errors of metabolism,organic acid disorders are the most significant type of metabolic disorders that cause seizures.The clinical manifestations of these di... Epilepsy can be caused by a variety of causes,such as inborn errors of metabolism,organic acid disorders are the most significant type of metabolic disorders that cause seizures.The clinical manifestations of these diseases are generally nonspecific,and the types of seizures are different.Screening for multisystem clinical symptoms and identifying the underlying etiology are crucial for early treatment of epileptic seizures.This article provides a comprehensive summary of the pathogenesis,clinical features,diagnosis and treatment of epilepsy associated with organic acid metabolism disorders.Furthermore,relevant literature has also been reviewed to assist clinicians in the diagnosis of cases characterized by the coexistence of multisystemic symptoms and epileptic manifestations. 展开更多
关键词 Organic acids EPILEPSY gene genetic variants Diagnosis Treatment
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An Overview of Genome-Wide Association Studies in Alzheimer's Disease 被引量:4
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作者 Luxi Shen Jianping Jia 《Neuroscience Bulletin》 SCIE CAS CSCD 2016年第2期183-190,共8页
Genome-wide association studies(GWASs)have revealed a plethora of putative susceptibility genes for Alzheimer's disease(AD). With the sole exception of the APOE gene, these AD susceptibility genes have not been u... Genome-wide association studies(GWASs)have revealed a plethora of putative susceptibility genes for Alzheimer's disease(AD). With the sole exception of the APOE gene, these AD susceptibility genes have not been unequivocally validated in independent studies. No single novel functional risk genetic variant has been identified. In this review, we evaluate recent GWASs of AD, and discuss their significance, limitations, and challenges in the investigation of the genetic spectrum of AD. 展开更多
关键词 Association analysis Alzheimer’s disease susceptibility genes Apolipoprotein E Common variant
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Expression of ETV6 rearrangement in a subject with acute myeloid leukemia-M4Eo
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作者 GAO Na LI Zhi-hong +4 位作者 DING Bu-tong CHEN Yun WANG Yun-shan QIAO Ying GUO Nong-jian 《Chinese Medical Journal》 SCIE CAS CSCD 2008年第17期1744-1746,共3页
Acute myeloid leukemia (AML) M4Eo type is a hematological malignancy with abnormal eosinophilia, which is often accompanied by inv(16). The Ets variant gene 6 (ETV6), mapped to 12p13, is an ETS family transcript... Acute myeloid leukemia (AML) M4Eo type is a hematological malignancy with abnormal eosinophilia, which is often accompanied by inv(16). The Ets variant gene 6 (ETV6), mapped to 12p13, is an ETS family transcription factor that is essential for hematopoietic processes,l The ETV6 gene-involved chromosomal translocations have been found in many hematological malignancies characterized by fusing to a number of different partner genes; mainly coding for tyrosine kinases or transcription factors which are important for the initiation, progress and prognosis of disease.2 In particular, the ETV6 gene has been reported to be fused to ABL in acute lymphocytic leukemias (ALL),3 and chronic myeloid leukemia (CML).4 However, there have been few domestic reports of ETV6 fusion genes, especially in cases of acute leukemia. We investigated 3 cases of AML-M4Eo patients using Split-signal Fluorescence in situ hybridization (FISH) and found one case with a translocation between 12p13 and lq25 co-occurring with an inv(16). The ETV6/ARG (ABL-related gene) fusion transcript was confirmed by reverse transcriptase-polymerase (RT-PCR). This is the report of ARG chain reaction involvement in a translocation in a human malignancy. 展开更多
关键词 Ets variant gene 6 ABL-related gene M4EO acute myeloid leukemia
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