Association of apolipoprotein E gene polymorphism with the occurrence and therapeutic effect of ischemic stroke

At present,ischemic stroke seriously affects people's life and health,and its occurrence,development and therapeutic effect are affected by many factors.With the deep research on ischemic cerebral apoplexy disease,people have a deeper understanding of its virulence genes.The apolipoprotein E genotype is the research focus recently,its genetic type is not only involved in the occurrence and development of ischemic cerebral apoplexy,but also causes different therapeatic effects.In this paper,we reviewed the relationship between apolipoprotein E gene polymorphism and lipid metabolism and atherosclerosis in ischemic stroke,as well as the differences in the therapeutic effects of thrombolysis,thrombectomy and lipid-lowering among different genotypes.

THE ASSOCIATION OF POLYMORPHISMS AT A VNTR LOCUS 3’TO THE APOLIPOPROTEIN B GENE WITH CORONARY HEART DISEASE IN CHINESE POPULATION

The polymorphisms of variable number of tandem repeats (VNTR) 3’to the apolipoprotein B (apo B) gene were investigated using polymerase chain reaction (PCR) in a sample of 103 patients with documented coronary heart disease (CHD) and 100 healthy individuals selected from Chinese Han nationality.Twelve segregating alleles (3’β29 -51) were observed in the pooled total of 203 subjects. The most common allele was 3’β 37. followed by 3’β39 with frequencies of 0. 362 and 0. 296, respectively. This model of allele distribution was coincident with the results form different ethnic groups, but the relative frequencies of alleles were different. In comparison with the allele frequencies between the patients and controls,alleles bigger than 3’β39 (3’VNTR-B) were significantly more common among the patients than among the controls (P<0. 001). Moreover. in the CHD group patients with plasma levels of TC≥3.88 mmol/L,LDL-C≥2. 59 mmol/L and HDL-C<l. 16mmol/L had significantly higher frequencies of 3’ VNTR-B allele (P<0. 01). Therefore,it is suggested that 3’ VNTR-B allele might be involved in the development of coronary atherosclerosis, presumably through their influences on lipid metabolism.This study supported by “8. 5” grant from Ministry of PublicHealth.

Association of Apolipoprotein E Gene Polymorphism with Lipid Profile in Patients with Acute Coronary Syndrome in Han Chinese: A Critical Review

This review paper focuses on the genetic contribution, in particular, the association of Apolipoprotein E gene polymorphism to lipid abnormality and subsequent acute coronary syndrome in Han Chinese of China. Many researches have been published pertaining the influence of ApoE gene polymorphism on coronary artery disease, dyslipidemia and the response of statin in Han Chinese. Most of the studies in Han Chinese like other populations demonstrated that ApoE 4 allele genetically predisposes coronary artery disease, acute coronary syndrome, severity of occlusion of coronary artery and higher incidence of major adverse cardiovascular events (In Han Chinese, ApoE allele carriers demonstrated 85% increase in major adverse cardiovascular events (MACE) in six months follow up). In addition, ApoE4 allele carrier also showed both increased in LDL level and decrease response to statin therapy in dyslipidemic Han Chinese. On the other hand, ApoE2 carrier is scavenger of cholesterol and triglyceride from the blood;?thus it is cardiovascular-protective. Despite positive relationship between ApoE gene polymorphism and cardiovascular pathologies, prognostic outcome and resistance to intervention, this area of research still requires?extensive investigation in Han Chinese. Because, several other studies revealed either negative effect or showed no effect by ApoE gene polymorphism on cardiovascular disease. Some of the causes of such debatable results could be explained by factors such as diminutive frequency allele and expression of ApoE gene in coronary heart disease. This part of the research yet requires extensive study with bulkier sample size and retrospective in nature, in order to ascertain the influence of ApoE genotype on lipid, anti-hyperlipidemic agent and coronary heart disease. Such studies could assist us to confirm whether to test healthier subjects to predict genetic risk of coronary heart disease in Han Chinese population. The aim of this review paper is to critically analyze the effect of ApoE gene on the occurrence of coronary heart disease in Han Chinese.

XbaⅠpolymorphisms of apolipoprotein B gene:Another risk factor of gallstone formation after radical gastrectomy

AIM:To prospectively investigate the association between the XbaⅠpolymorphisms of apolipoprotein B (APOB)gene and gallstone formation following gastrectomy.METHODS:The study was conducted between January 2005 and December 2006.A total of 186 gastric cancer patients who had undergone radical gastrectomy were grouped according to XbaⅠpolymorphisms of APOB gene(X+X-group,n=24 and X-X-group,n =162)and compared.The XbaⅠpolymorphisms of APOB gene were detected by polymerase chain reaction-restriction fragment length polymorphism(PCRRFLP).RESULTS:The incidence of gallstone was significantly higher in the X + X-group than in the X-X-group[54.2% vs 9.3%,RR=5.85(2.23-15.32),P<0.001].The serum levels of total cholesterol(TC)and low-density lipoprotein(LDL)were higher in the X + X-than in the X-X-group(4.02±1.12 vs 3.48±0.88,P=0.004 before surgery and 3.88±1.09 vs 3.40±0.86,P=0.008 after surgery).LDL was 2.21±0.96 vs 1.89±0.84(P =0.042)before surgery and 2.09±0.95 vs 1.72±0.85 (P=0.029)after surgery in the two groups.No relationship was found between XbaⅠpolymorphisms and gallbladder motility.CONCLUSION:In Chinese patients after radical gastrectomy,X + allele of APOB gene is another risk factor for the development of gallstone besides the gallbladder motility disorder after surgery.

APOE and APOC1 gene polymorphisms are associated with cognitive impairment progression in Chinese patients with late-onset Alzheimer's disease

Current evidence shows that apolipoprotein E （APOE）, apolipoprotein CI （APOC1） and low density lipoprotein receptor-related protein （LRP） variations are related to late-onset Alzheimer＇s disease. However, it remains unclear if genetic polymorphisms in these genes are associated with cognitive decline in late-onset Alzheimer＇s disease patients. We performed a 30-month longitudi- nal cohort study to investigate the relationship between Alzheimer＇s disease and APOE, APOC1, and LRP. In this study, 78 Chinese Han patients with late-onset Alzheimer＇s disease were recruit- ed form Guangxi Zhuang Autonomous Region in China. APOE, APOC1, and LRP genotyping was performed using polymerase chain reaction-restriction fragment length polymorphisms. The Mini-Mental State Examination and Clinical Dementia Rating Scale were used to assess pa- tients＇ cognitive function. After a 30-month follow-up period, we found a significant reduction in Mini-Mental State Examination total score, a higher proportion of patients fulfilling cognitive impairment progression criteria, and a higher proportion of APOC1 H2 carriers in APOE 4 carriers compared with non-carriers. In addition, the APOE 4 allele frequency was significantly higher in the cognitive impairment progression group compared with the non-cognitive im- pairment progression group. In conclusion, APOE e4 plays an important role in augmenting cognitive decline, and APOC1 H2 may act synergistically with APOE ~4 in increasing the risk of cognitive decline in Chinese patients with late-onset Alzheimer＇s disease.

Effect of apolipoprotein E gene Hha Ⅰ restricting fragment length polymorphism on serum lipids in cholecystolithiasis

AIM To investigate the role of apolipoprotein E (apoE) polymorphism in the lithogenesis of gallstone and the hereditary pathogenesis of the disease.METHODS Polymerase chain reaction (PCR)was used to study apoE phenotypes and allelefrequencies in patients with gallstones and control, and the fasting serum lipids of subjectswere also measured by enzymatic methods.RESULTS The levels of triglyceride (TG) andvery low density lipoprotein cholesterol (VLDLC) were much higher in Ez/, patients than that inE,/, control. E,/, patients were accompanied withremarkably low levels of high density lipoproteincholesterol (HDLC) and its subforms. But in E,/#patients there were only slight changes in levelsof VLDLC and low density lipoprotein cholesterol (LDL--C).CONCLUSION Different apoE phenotype patientswith gallstones have different cheracteristics ofdyslipidemia and the average level of serum lipids in patients with gallstones are higher thansubjects without gallstones in the same apoEgene phenotype. EZ allele is possibly one of thedangerous factors in the lithogenesis of cholecystolithiasis.

Pediatric fatty liver disease:Role of ethnicity and genetics

Non-alcoholic fatty liver disease (NAFLD) comprehends a wide range of conditions, encompassing from fatty liver or steatohepatitis with or without fibrosis, to cirrhosis and its complications. NAFLD has become the most common form of liver disease in childhood as its prevalence has more than doubled over the past 20 years, paralleling the increased prevalence of childhood obesity. It currently affects between 3% and 11% of the pediatric population reaching the rate of 46% among overweight and obese children and adolescents. The prevalence of hepatic steatosis varies among different ethnic groups. The ethnic group with the highest prevalence is the Hispanic one followed by the Caucasian and the African-American. This evidence suggests that there is a strong genetic background in the predisposition to fatty liver. In fact, since 2008 several common gene variants have been implicated in the pathogenesis of fatty liver disease. The most important is probably the patatin like phospholipase containing domain 3 gene (PNPLA3) discovered by the Hobbs&#x02019; group in 2008. This article reviews the current knowledge regarding the role of ethnicity and genetics in pathogenesis of pediatric fatty liver.

Apolipoprotein E gene polymorphism and susceptibility to intracerebral hemorrhage:A meta-analysis

OBJECTIVE： To evaluate the relationship between apolipoprotein E （ApoE） gene polymorphism and susceptibility to intracerebral hemorrhage （ICH） in Chinese population by a meta-analysis. METHODS： Related literature regarding control analysis between ICH and control groups was collected. Independent case-control studies published between 1989 and 2007 that had complete data were included; and articles not closely related to the topic were excluded. The meta-analysis software, RevMan 4.2, was applied to analyze the odds ratio （OR） value in those studies included in the analysis to assess the relationship between susceptibility to ICH and ApoE polymorphism. RESULTS： Eight papers which were in accordance with the inclusion criteria were selected, and a total of 1 249 ICH cases and 1 329 controls were involved. Meta-analysis results showed that with the wildtype E3/3 as a reference, the OR values （95% confidence interval） of intracerebral hemorrhage for subjects carrying E2/2, E3/2, E4/2, E4/3, and E4/4 were 1.15 （0.60–2.21）, 1.00 （0.79–1.28）, 3.01 （1.73–5.23）, 1.78 （1.41–2.24） and 1.94 （1.03–3.65）, respectively. The combined OR values （95% confidence interval） of intracerebral hemorrhage for ε4 and ε2 carriers were 1.53 （1.16–2.01）, and 0.93 （0.69–1.25）. CONCLUSION： The results suggest that ApoE polymorphism is significantly associated with susceptibility to intracerebral hemorrhage and that ε4 carriers have a higher risk for intracerebral hemorrhage than others.

Apolipoprotein E gene polymorphism in cerebrovascular diseases of the Chinese Naxi populations from Yunnan province

Currently it is not well known whether apolipoprotein E （ApoE） is a genetic susceptibility factor for cerebrovascular diseases in the Chinese Naxi population. The present study detected and sequenced ApoE polymorphisms of 90 patients with cerebrovascular diseases （58 cases of cerebral infarction and 32 cases of intracerebral hemorrhage）, and 50 normal people of Naxi nationality from Yunnan province, China. The populations were used to analyze the relationship of ApoE polymorphisms with cerebral infarction and intracerebral hemorrhage. Results showed an association between ApoE gene polymorphism and the onset of cerebral infarction, and a possibility that the ε4 allele is a susceptibility locus for the risk of cerebral infarction. However, there was no evidence of a relationship between the ApoE gene polymorphism and cerebral hemorrhage.

Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels

Objectives Apolipoprotein(Apo) A5 gene poly-morphisms and alcohol consumption have been associated with increased serum triglyceride(TG) levels,but little is known about their interactions on serum lipid levels.The present study was undertaken polymorphismsand alcohol consumption on serum lipid levels.Methods A total of 516 unrelated nondrinkers and 514 drinkers aged 15 -89 were randomly selected from our previous stratified randomized cluster samples.Genotyping of the ApoA5was performed by polymerase chain reaction and restriction fragment length polymorphism,and then confirmed by direct sequencing.Interactions of the ApoA5alcohol consumption were assessed by using a cross-product term between genotypes and the aforementioned factor.Results The levels of total cholesterol (TC),TG,high-density lipoprotein cholesterol(HDL-C), ApoA1 and ApoB were higher in drinkers than in nondrinkers (P【0.05-0.001).The genotypic and allelic frequencies of the three single nucleotide polymorphisms(SNPs) were not different between the two groups.The levels of TG in non-drinkers, and TC,TG,low-density lipoprotein cholesterol (LDL-C)and ApoB in drinkers were different among the three -1131T】C genotypes(P【0.05-0.001).The -1131C allele carriers had higher serum TC,TG,LDL-C and ApoB levels than the allele noncarriers.The levels of TG,HDL-C and ApoB in nondrinkers,and TG and HDL-C in drinkers were different between the two c.553G】T genotypes(P【0.05-0.01).The C.553T allele carriers had higher serum TG and ApoB levels,and lower HDL-C levels than the allele noncarriers.Serum lipid levels in nondrinkers were not different among the three c.457G】A genotypes(P【0.05 for all), but the levels of HDL-C,LDL-C,ApoA1 and ApoB in drinkers were different between the GG and GA/AA geno-types (P【0.05-0.001).The C.457A allele carriers had lower serum HDL-C,LDL-C,ApoAl and ApoB levels than the allele noncarriers.We also observed four haplotypes:G-G-T, G-G-C,G-A-T,and T-G-C with frequencies ranging from 0.06 to 0.87,representing 100%of all haplotypes in the both populations.The ApoA5 haplotypes were significantly(P【0.05) associated at the global level with TC,TG,HDL-C, LDL-C,Apo1,and ApoB,even after correction for multiple testing with permutation test.In particular,carriers of haplo-type G-G-C had significantly higher TC,TG,LDL-C,ApoB than noncarriers,whereas carriers of haplotype C-A-T had significantly lower TC,LDL-C,ApoAl and ApoB,and higher HDL-C than noncarriers.Serum TC levels in nondrinkers were correlated with -1131T】C genotype and allele(P【0.05 for each),whereas serum TC,TG and LDL-C levels in drinkers were associated with -1131 T】C and C.553G】T genotypes,or c.457G】A alleles(P【0.05-0.001).Serum lipid parameters were also correlated with several environmental factors in the both groups.Conclusions The differences in serum lipid profiles between the drinkers and nondrinkers might partly result from different interactions of ApoA5 gene polymor phisms and alcohol consumption.genotypes and -1131T】C, c.553G】T and c.457G】A to detect the interactions of the ApoA5

Relationship between apolipoprotein E gene polymorphism and total cholesterol level in patients with kidney diseases

AIM： To evaluate the association between apolipoprotein E （apoE） gene polymorphism and total cholesterol （TC） level in patients with kidney diseases. METHODS： A predefined literature search was performed to collect data from the electronic databases of PubMed, Embase and the Cochrane Library and eligible relevant studies reporting the association of apoE gene polymorphism with TC level in patients with kidney diseases were recruited for meta-analysis.RESULTS： Twenty-one studies were identifed for the analysis of association between apoE gene polymorphism and TC level in patients with kidney disease. Subjects with E3E4 had a higher TC than those with E3E3 [weighted mean differences （WMD）=2.14, P=0.01] and subjects with E2E3 had a lower TC than those with E3E3 （WMD=-1.93, P=0.01）. Subjects with ε2 had a lower TC than those with ε3 （ε2 vs ε3： WMD=-1.23, P=0.002; ε2 vs ε4： WMD=-2.77, P﹤0.0001） and subjects with 3 had a lower TC than those with 4 （WMD=-0.79, P=0.03）. CONCLUSION： Subjects with apoE E3E4 and ε4 had a higher TC level and subjects with apoE E2E3 and ε2 had a higher TC level in patients with kidney disease. However, more well-designed studies should be per-formed in the future to confrm these fndings.

Advances in the relationship between apolipoprotein gene polymorphism and blood lipid and cardiovascular disease

Objective： Dyslipidemia is a leading cause of cardiovascular disease. At present, studies have shown that theincidence of cardiovascular disease in our country increased year by year. According to WHO statistics in 2013, itshowed that about 17 million people worldwide die from coronary heart disease （CHD） every year. Currently, CHDis the first cause of death in western countries and the incidence of CHD also showed a trend of increasing. Inrecent years more experts and scholars at home and abroad found gene polymorphism is closely related tohigh-density lipoprotein cholesterol （HDLC） gene and triglyceride （TG） levels. Apolipoprotein （APO） gene is akind of popular polymorphic proteins, whose genetic polymorphisms is through the impact of lipid metabolism,and then closely related to cerebrovascular diseases. But the results are different in different populations and races,or even the opposite. Methods： This review will summarize the gene polymorphism loci of commonapolipoprotein-ApoA1, ApoA5, Apo B, ApoC3, ApoE, which is associated with lipid levels and cardiovasculardisease. Conclusion： It is important for us to get a further understand and prevent the occurrence and developmentof cardiovascular disease from gene level..

Apolipoprotein A-V gene therapy for disease prevention/treatment:a critical analysis

Apolipoprotein（apo） A-V is a novel member of the class of exchangeable apo＇s involved in triacylglycerol（TG）homeostasis.Whereas a portion of hepatic-derived apoA-V is secreted into plasma and functions to facilitate lipoprotein Iipase-mediated TG hydrolysis,another portion is recovered intracellularly,in association with cytosolic lipid droplets.Loss of apo A-V function is positively correlated with elevated plasma TG and increased risk of cardiovascular disease.Single nucleotide polymorphisms（SNP） in the APOA5 locus can affect transcription efficiency or introduce deleterious amino acid substitutions.Likewise,rare mutations in APOA5 that compromise functionality are associated with increased plasma TG and premature myocardial infarction.Genetically engineered mouse models and human population studies suggest that,in certain instances,supplementation with wild type（WT） apoA-V may have therapeutic benefit.It is hypothesized that individuals that manifest elevated plasma TG owing to deleterious APOA5 SNPs or rare mutations would respond to WT apoA-V supplementation with improved plasma TG clearance.On the other hand,subjects with hypertriglyceridemia of independent origin（unrelated to apoA-V function） may not respond to apoA-V augmentation in this manner.Improvement in the ability to identify individuals predicted to benefit,advances in gene transfer technology and the strong connection between HTG and heart disease,point to apoA-V supplementation as a viable disease prevention / therapeutic strategy.Candidates would include individuals that manifest chronic TG elevation,have low plasma apoA-V due to an APOA5 mutation/polymorphism and not have deleterious mutations/polymorphisms in other genes known to influence plasma TG levels.

Study on relationship of apolipoprotein E gene polymorphism and genetic susceptibility of stress urinary incontinence

Objective:To explore the relationship between apolipoprotein E(ApoE) gene polymorphism and susceptibility of stress urinary incontinence(SUI). Methods:ApoE genotypes were examined by polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) technique in 99 patients with SUI and 101 asymptomatic controls. Results:The frequency of allele e3 of ApoE was slightly lower in patients with anatomic SUI than that in controls (79.44%vs.81.68%),while the frequency of allele e4 of ApoE was slightly higher in patients with anatomic SUI than that in controls(10.00%vs.9.90%).No significant difference was found in frequency of allele e3 or e4 between SUI patients and controls(x^2=0.523,P = 0.770). Conclusion:The gene polymorphism of ApoE is not independently involved in the development of SUI.

APOE基因多态性与急性心肌梗死患者PCI术后近期主要不良心血管事件的临床关系分析

目的探讨载脂蛋白E(APOE)基因多态性与急性心肌梗死(AMI)患者经皮冠状动脉介入治疗(PCI)术后近期主要不良心血管事件(MACE)的临床关系。方法选取于周口市中心医院行PCI术的192例AMI患者为观察组,另选取165例健康体检者为对照组,检测APOE基因多态性。根据PCI术后近期MACE发生情况将AMI患者分为发生组与未发生组,对比APOE等位基因、基因型分布情况,分析其与术后近期MACE的关系。结果观察组等位基因E4与基因型E3/4、E4/4分布频率高于对照组(P<0.05),等位基因E2与基因型E2/3分布频率低于对照组(P<0.05);术后6个月,MACE发生率为19.79%;发生组等位基因E4与基因型E3/4、E4/4分布频率高于未发生组(P<0.05),等位基因E2与基因型E2/3分布频率低于未发生组(P<0.05);年龄、术前Gensini评分、病变支数、梗死部位数、高血压、糖尿病、高血脂症、术后慢/无复流以及等位基因E4与E2均是AMI患者PCI术后近期发生MACE的影响因素(P<0.05)。结论APOE基因中的E4与E2等位基因与AMI患者PCI术后近期MACE的发生密切相关。

Drought-responsive genes expressed predominantly in root tissues are enriched with homotypic cis-regulatory clusters in promoters of major cereal crops

The root appears to be the most relevant organ for breeding drought stress tolerance.However, our knowledge about temporal and spatial regulation of drought-associated genes in the root remains fragmented, especially in crop plants. We performed a meta-analysis of expression divergence of essential drought-inducible genes and analyzed their association with cis-elements in model crops and major cereal crops. Our analysis of42 selected drought-inducible genes revealed that these are expressed primarily in roots,followed by shoot, leaf, and inflorescence tissues, especially in wheat. Quantitative real-time RT-PCR analysis confirmed higher expression of TaDREB2 and TaAQP7 in roots,correlated with extensive rooting and drought-stress tolerance in wheat. A promoter scan up to 2 kb upstream of the translation start site using phylogenetic footprinting revealed708 transcription factor binding sites, including drought response elements(DREs), auxin response elements(Aux REs), MYCREs/MYBREs, ABAREs, and ERD1 in 19 selected genes.Interestingly, these elements were organized into clusters of overlapping transcription factor binding sites known as homotypic clusters(HCTs), which modulate drought physiology in plants. Taken together, these results revealed the expression preeminence of major drought-inducible genes in the root, suggesting its crucial role in drought adaptation. The occurrence of HCTs in drought-inducible genes highlights the putative evolutionary modifications of crop plants in developing drought adaptation. We propose that these DNA motifs can be used as molecular markers for breeding drought-resilient cultivars, particularly in the cereal crops.

Effects of 9-cis retinoic acid on human homeobox gene NKX3.1 expression in prostate cancer cell line LNCaP

Aim:To study the regulatory effects of 9-cis retinoic acid(RA)on the expression of human homeobox gene NKX3.1 in prostate cancer cell line LNCaP.Methods:Flow cytometry,reverse transcriptase polymerase chain reaction and Western blotting were performed to evaluate the effects of 9-cis RA on NKX3.1 expression and cell cycle of LNCaP cells.To identify a regulatory region within the NKX3.1 promoter contributing to the regulation induced by 9-cis RA, we have constructed an NKX3.1 promoter-reporter plasmid,pGL_3-1040bp,and its 5′-deletion mutants,which were transfected into LNCaP cells with treatment of 9-cis RA in indicated concentrations.Results:With the treatment of 9-cis RA,the NKX3.1 promoter activity was increased in reporter gene assay and NKX3.1 expression was enhanced at both mRNA and protein levels in LNCaP cells.We found that the region between -936 and -921 in the upstream of NKX3.1 gene involved the inducible regulation by 9-cis RA treatment.In flow cytometry,9-cis RA treatment caused accumulation of cells in the G_1 phase of the cell cycle and a fewer cells pass through to G_2/M.Conclusion:Our results demonstrated that 9-cis RA as a differentiating agent can arrest prostate cancer cells in G_1 phase and reduce cell mitosis,and upregulate the expression of human homeobox gene NKX3.1,which is thought to play an important role in prostate differentiation and to act as a tumor suppressor gene in the prostate.(Asian J Androl 2006 Jul;8:435-441)

桑树NAC基因家族鉴定与生根粉处理下表达模式分析

【目的】探究桑树NAC基因家族的生物信息学特征,并研究1000 mg·L^(-1)生根粉(ABT)处理对该基因产生的影响,为深入研究桑树NAC转录因子的功能提供依据。【方法】利用生物信息学方法对川桑NAC基因家族进行基因鉴定,并分析其理化性质、保守基序、顺式作用元件、系统进化树、蛋白三级结构及互作关系,并选用‘果桑大十’作为试验材料,经ABT处理后,分析其4个时期(10、20、30、40 d)NAC基因家族的表达模式。【结果】桑树NAC基因家族共有92个成员,分为22个亚家族,亚家族成员广泛分布于细胞核,且具有相似的保守结构。顺式作用元件分析表明,桑树NAC基因家族对激素具有较强的响应能力。蛋白三级结构显示同一亚家族的蛋白空间结构相似,且功能相同,这可能与其进化同源性有关。ABT处理后,NAC基因家族的表达水平整体呈上升趋势,而MnNAC91、MnNAC67、MnNAC28在对照组(CK)中呈现较高的表达水平。【结论】NAC基因家族功能相对稳定,在整个进化过程中无明显变化;ABT可促进NAC基因家族表达,尤其是MnNAC75、MnNAC104、MnNAC7、MnNAC30、MnNAC101、MnNAC83、MnNAC102具有较高的同源性,并与拟南芥的结构功能相似,推测对抗干旱胁迫有一定作用。

载脂蛋白E基因多态性与颅脑损伤后认知功能障碍的相关性研究

目的探讨载脂蛋白E(ApoE)基因多态性与颅脑损伤后认知功能障碍的关系。方法前瞻性选取2018年1月—2023年2月重庆医科大学附属巴南医院神经外科收治的57例颅脑损伤后认知功能患者为认知功能障碍组,同期收治的不伴有认知功能障碍的颅脑损伤患者51例为对照组。取患者抗凝静脉全血2~4 mL进行核酸提取,使用APOE基因检测试剂盒,采用多重荧光PCR法对提取的DNA进行APOE基因ε2、ε3和ε4位点的检测,比较两组基因型分布差异。用Logistic回归分析对两组患者一般资料及携带ε2、ε3和ε4基因进行筛选,得出颅脑损伤后认知功能障碍的基因危险因素。结果两组患者基因型分布差异有统计学意义(P<0.05),两组ε3基因携带者和ε4基因携带者占比有明显差异(P<0.05)。单因素Logistic回归分析提示,仅携带ε4为颅脑损伤后认知功能障的危险因素[P=0.005,OR=0.317(95%CI:0.142~0.711)]。把单因素Logistic回归中P值最低的5个变量(GCS、性别、损伤程度及ε3、ε4携带者)所有因素纳入多因素Logistic回归分析,发现携带ε4基因是颅脑损伤后认知功能障的危险因素[P=0.039,OR=0.379(95%CI:0.150~0.954)]。结论ApoEε4基因与颅脑损伤后认知功能障碍有关。