Association between apolipoprotein E promoter-219G/T polymorphism and total cholesterol level in patients with Alzheimer disease

BACKGROUND: Many researches have suggested that apolipoprotein E (APOE) and total cholesterol metabolism are closely related with dementia. In the supposed theory, 219 site of APOE promoter region is near gene coding region, so its polymorphism may result in the abnormality of APOE gene and protein expression, and finally lead to dementia. OBJECTIVE: To observe the association between APOE promoter-219G/T polymorphisms with serum total cholesterol in patients with Alzheimer disease, and compare it with non-dementia people. DESIGN: Case-control, comparative observation. SETTING: Department of Neurology, Fengtian Hospital of Shenyang Medical College. PARTICIPANTS: Fifty-five dementia patients including 27 males and 28 females aged (66±3) years and treated in the Department of Neurology, Fengtian Hospital were selected from January 2002 to December 2005 as the Alzheimer disease group. They all diagnosed according to the DSM-Ⅳdiagnostic criteria of Alzheimer disease instituted by American Psychiatry Association in 1994. Meanwhile, 44 none-dementia patients including 21 males and 23 females aged (66±3) years were selected from other clinical departments of Fengtian Hospital as control group. All the participants were informed the detection and agreed. METHODS: Genomic DNA was extracted from the peripheral blood of all subjects, then 'NEST'PCR, DNA sequence and enzyme digestion were adopted to detect the expression of APOE promoter-219 polymorphism, following by biomedical statistics analysis based on the clinical total cholesterol level. MAIN OUTCOME MEASURES: Polymorphism of APOE promoter-219 G/T and total cholesterol level. RESULTS: All 55 dementia patients and 44 non-dementia ones were involved in the result analysis. ①Allele and genotype frequency: The T allele frequency of the Alzheimer disease group was significantly higher than that in the control group [88.2% (97/110), 54.5% (48/88)], while G allele frequency was remarkably lower than that in the control group [11.8%(13/110), 45.5%(40/88), χ2=8.2, P < 0.01]. The TT allele frequency of the Alzheimer disease group was significantly higher than that in the control group [76% (42/55), 48% (21/44)], while GT+GG allele frequency was remarkably lower than that in the control group [24%(13/55), 52%(23/44), χ2=8.7, P < 0.01]. ②Total cholesterol level: The level of the TT genotype patients in the Alzheimer group was obviously higher than that in GT+GG genotype patients (t =2.46, P < 0.05); the cholesterol level in the two genotypes of the control group was similar (P > 0.05). CONCLUSION: TT genotype and allele T in the APOE promoter-219 polymorphisms are the sensitive gene, and genotype TT has a relationship with the increase of total cholesterol level.

Apolipoprotein E variants correlate with the clinical presentation of paediatric inflammatory bowel disease:A cross-sectional study

BACKGROUND It has been suggested that apolipoprotein E(APOE)polymorphisms are associated with the risk of developing inflammatory bowel disease(IBD)and the early age of disease onset.However,there are no reports regarding the relationship with clinical characteristics and disease severity.AIM To summarise that APOE polymorphisms are associated with the risk of developing IBD and the early age of disease onset.METHODS In total,406 patients aged 3-18 with IBD(192 had ulcerative colitis and 214 had Crohn’s disease)were genotyped using the TaqMan hydrolysis probe assay.Clinical expression was described at diagnosis and the worst flare by disease activity scales,albumin and C-reactive protein levels,localisation and behaviour(Paris classification).Systemic steroid intake with the total number of courses,immunosuppressive,biological,and surgical treatment with the time and age of the first intervention were determined.The total number of exacerbation-caused hospitalisations,the number of days spent in hospital due to exacerbation,the number of relapses,and severe relapses were also estimated.RESULTS Ulcerative colitis patients with the APOEε4 allele had lower C-reactive protein values at diagnosis(P=0.0435)and the worst flare(P=0.0013)compared to patients with the APOEε2 allele and genotype APOEε3/ε3.Crohn’s disease patients with the APOEε2 allele scored lower on the Pediatric Crohn’s Disease Activity Index at diagnosis(P=0.0204).IBD patients with APOEε2 allele spent fewer days in the hospital due to relapse(P=0.0440).CONCLUSION APOE polymorphisms are associated with the risk of developing IBD and the clinical expression of IBD.However,the clinical relevance of the differences identified is rather modest.

Apolipoprotein E gene polymorphisms associated with processing speed and executive functions in healthy Han Chinese

Dear Editor,A few studies have focused on exploring APOE gene- related effects on cognitive functions and brain activities in healthy populations. Bondi et aL found that ε4 carriers perform significantly worse on the California Verbal Learning Test than non-carriers in non-demented old subjects （mean age, 72 years）ε11. But the results are not entirely consistent. For example, Scarmeas et aL found no effect of the E4 allele on neuropsychological performance[2] in young adults, and Jochemsen et al. found that the ε4 allele is associated with age-related cognitive decline[3]. Furthermore, protective and negative effects of the E2 allele on cognition are inconsistent[4＇ s]. APOE E2 is thought to be a protective allele for AD in the elderly population due to its role in the superior cognitive performance of ε2 carriers compared to E3 or E4 carriers[5]. However, the ε2 allele has also been found to have a negative effect on AD pathology[4].

The relationship of plasma homocysteine level and apolipoprotein E gene polymorphism with Alzheimer's disease

Objective To investigate the correlations of plasma homocysteine(Hcy)level and apolipoprotein E gene polymorphism with Alzheimer’s disease(AD)and mild cognitive impairment(MCI).Methods A case-control study in 66 AD patients(AD group),64 MCI patients(MCI group)and 54 healthy controls(control group)was conducted.Plasma Hcy level and Apo E polymorphism

Apolipoprotein E genotype in patients with Alzheimer's disease

Objective To explore the frequency and significance of ApoE gene polymorphisms in patients with sporadic Alzheimer’s disease (AD).Methods Single nucleotide polymorphisms of the ApoE gene were analyzed in 32 cases of AD and 26 controls,using PCR and gene sequencing.Results The single nucleotide polymorphism of ApoE gene 462C/G was significantly associated with AD ( P <0.05).Conclusions The 462C/G polymorphism might be a specific genotype in Chinese patients with sporadic AD.