scholarly journals Apolipoprotein e gene polymorphism as a risk factor for ischemic cerebrovascular disease

2004 ◽  
Vol 23 (3) ◽  
pp. 255-264 ◽  
Author(s):  
Sanja Stankovic ◽  
Zagorka Jovanovic-Markovic ◽  
Nada Majkic-Singh ◽  
Aleksandra Stankovic ◽  
Sanja Glisic ◽  
...  

The possible association of apolipoprotein E (apoE) DNA polymorphism with ischemic cerebrovascular disease was evaluated in 65 patients who had suffered completed stroke or transient ischemic attack and 330 healthy controls. ApoE genotypes were determined by restriction isotyping/MADGE analysis. Significant difference in apoE genotype frequencies between case and control group was observed (p<0.01). Patients affected by ischemic stroke had higher frequency of E4 allele and lower E2 allele than age-matched control subjects. Compared with persons without E4 allele, carriers of an E4 allele had 2.1 times higher risk of incident stroke. Our results indicate that the apoE gene polymorphism may be a risk factor for the development of ischemic cerebrovascular disease in Serbian population..

Genetika ◽  
2013 ◽  
Vol 45 (3) ◽  
pp. 865-872
Author(s):  
Nela Maksimovic ◽  
Ivana Novakovic ◽  
Vesna Ralic ◽  
Elka Stefanova

Apolipoprotein E (ApoE) play important role in lipid metabolism and in processes of remodeling and reparation in central nervous system. Three common ApoE isoforms, ApoE2, ApoE3 and ApoE4, show strong genetic determination by ?2, ?3, and ?4 allele. In human genome gene encoding Apolipoprotein E (APOE) is located on cromosome 19, and ?2/?3/?4 haplotype system is defined by 2 non-synonymous single nucleotide polymorphisms (SNPs) in the APOE exon 4. The frequency of the three APOE alleles and corresponding genotypes varies across human populations, with possible clinical implications. At least, variable distribution of ?4 allele may contribute to the regional risk of cardiovascular and Alzheimer?s diseases. Allele-frequency comparisons between younger and older populations suggest an effect of APOE on mortality, but these data are not consistently confirmed. In the present study we have analyzed the distribution of APOE gene polymorphism in a group of University students and retained University professors living in Serbia. After DNA extraction from peripheral blood samples, the APOE genotype was determined by polymerase chain reaction (PCR) followed with HhaI restriction digestion. We found no statistically significant difference in alleles and genotypes distribution between younger and elder group of participants. Also, there was no significant difference compared to APOE data previously obtained in YUSAD cohort of healthy school children (15 y of age) from different regions of Serbia. In both of our groups, as well as in YUSAD cohort, frequency of APOE ?4 allele was <10%. The observed frequencies are lower than in neighboring countries, but similar with Spanish data and some Asian populations. Our results do not support important role of APOE ?4 in the morbidity and mortality in Serbian population, but gene-environmental-social interactions should be considered.


2002 ◽  
pp. 503-506 ◽  
Author(s):  
I Zofkova ◽  
K Zajickova ◽  
M Hill ◽  
A Horinek

OBJECTIVE: Apolipoprotein E (ApoE) is believed to play an important role in lipid metabolism and has been found to be related to diseases associated with ageing, the important characteristic of which is decline in circulating sex steroids, including androgen. DESIGN: To find the relationships of levels of serum testosterone and its precursor, dehydroepiandrosterone (DHEA), to ApoE polymorphism in 113 postmenopausal Caucasian women. METHODS: The ApoE genotype was assessed by polymerase chain reaction and CfoI endonuclease digestion. ApoE genotype distribution was as follows: E2/3, 15%; E3/3, 71.7%; E2/4, 1.8%; E3/4, 10.6; and E4/4, 0.89%. The differences in serum androgen levels between genotypes were evaluated by ANCOVA and least significant difference (LSD) multiple comparisons test after adjustment for body mass index, age and/or years since menopause. RESULTS: Significant intergroup differences between the most frequent allele combination (2/3, 3/3 and 3/4) in serum DHEA levels were found (P<0.05, ANCOVA). DHEA levels were higher in women with the E3/4 allele combination than in the E3/3 genotype (P<0.01, LSD multiple comparisons). In serum testosterone levels, borderline intergroup differences were found (P<0.07, ANCOVA). Higher testosterone levels were found in the E3/4 allele combination as compared with E3/3 (P<0.05, LSD multiple comparisons). Dose effect of E4 allele analysis indicated higher serum DHEA and testosterone levels in women with the E4 allele present than in women with the E4 allele absent (P<0.003 for DHEA, P<0.007 for testosterone, ANCOVA). CONCLUSIONS: Circulating testosterone and DHEA are associated with the ApoE genotype, which may render women carrying the allele E4 more susceptible to the development of some diseases associated with ageing and menopause [corrected].


2019 ◽  
Author(s):  
Huankun Lou ◽  
Lou Huankun ◽  
Minglang Wang ◽  
Liming Sun ◽  
Yilian Wang

Abstract Background: We speculated that there was a correlation between apolipoprotein E (ApoE) genetic polymorphisms and the occurrence of atrial fibrillation (AF) based on the AF inflammatory mechanism. The high-risk alleles of ApoE were examined in patients with AF and controls to determine the distribution of genotype and allele frequencies. Methods: From January 2017 to January 2019, 64 patients with AF in the department of cardiovascular medicine of the Lianyungang Second People's Hospital, and 49 healthy outpatient volunteers, were enrolled. ApoE gene polymorphisms were examined using allele-specific polymerase chain reaction. Statistical analyses were performed to identify high-risk ApoE alleles. Results: A total of 113 patients were enrolled in this study. Among them, 64 patients were in the AF group (38 male and 26 female), with an average age of 74.38 ± 8.37 years. The control group consisted of 49 cases (29 male and 20 female), with an average age of 65.24 ± 12.14 years. The six ApoE phenotypes ε2/ε2, ε2/ε3, ε2/ε4, ε3/ε3, ε3/ε4, and 4/ε4 were observed in 0.9% , 13.2%, 2.7%, 58.4% , 19.5%, and 5.3% . The proportions of our study population with ApoE protective, general, and risk genotypes accounted for 14.1%,61.1% , and 24.8% , respectively. There was no statistically significant difference in ApoE gene polymorphism frequencies related to gender, height, weight, smoking status, hypertension, type 2 diabetes mellitus, and coronary heart disease (P>0.05). There were significant differences in age, body mass index(BMI), larger left atrial diameter(LAD), and left ventricle ejection fraction(LVEF) (P<0.05). The observed genotype frequencies were in Hardy–Weinberg equilibrium and were representative of the population. Conclusion: There is a correlation between the ApoE genetic polymorphism and the occurrence of AF, and ApoEε4 is a high-risk genotype for AF.


2000 ◽  
Vol 6 (1) ◽  
pp. 32-36 ◽  
Author(s):  
S JM Weatherby ◽  
C LA Mann ◽  
M B Davies ◽  
D Carthy ◽  
A A Fryer ◽  
...  

Allelic variants of the apolipoprotein E (APOE) gene influence the course of several neurological diseases. In multiple sclerosis the concentration of APOE in cerebrospinal fluid and its intrathecal synthesis is reduced. Specific isoforms of APOE may also be important and it has been suggested that possession of the e4 allele may be associated with a more aggressive disease process. These data prompted us to re-examine, in a large group of patients with multiple sclerosis, the proposal that allelism in the apolipoprotein gene influences disease course. Genotypes were determined in a well-defined group of 370 unrelated Caucasians with clinically definite multiple sclerosis and in 159 healthy controls. Age at onset, sex, disease duration, disease subtype were recorded. Disability was measured using the Kurtzke expanded disability status score in patients with a disease duration of 10 years or greater. There was no significant difference in APOE allele or genotype frequencies between patients and controls, between disease subtypes or between genders. APOE genotype did not significantly influence age of onset, and no significant relationship between genotype, allele frequency and disease severity was found. This study suggests that individual APOE alleles or genotypes do not determine disease susceptibility or the clinical course of multiple sclerosis.


2021 ◽  
Vol 79 (3) ◽  
pp. 189-194
Author(s):  
Caner Feyzi DEMİR ◽  
İklimya Nimet ATAŞ ◽  
Ferhat BALGETİR ◽  
Hakan ARTAŞ ◽  
Murat GÖNEN ◽  
...  

ABSTRACT Background: Elevated levels of chemerin can predict future ischemic cerebrovascular disease. Although chemerin is thought to play a role in atherosclerotic inflammation, whether circulating chemerin levels are associated with the severity of atherosclerosis remains to be determined. Objectives: Through the use of carotid Doppler ultrasonography, our aim in this study was to investigate the relationships of serum chemerin levels with carotid intima-media thickness (CIMT) as an indicator of generalized atherosclerosis. Methods: This study compared 40 patients with ischemic stroke and 40 healthy subjects. Measurements were made at end-diastole using color Doppler ultrasonography (CDUS) after a 5-min rest interval in a quiet and dark room. CIMT was defined as the distance between the innermost edge of the luminal echo to the innermost edge of the media/adventitia echo. CIMT was measured in the posterior wall of both common carotid arteries within 1 cm proximally to the bulbus. Three measurements were made on both sides and the average measurement was taken as the CIMT. Serum chemerin levels were determined in all patients and healthy subjects. Results: Serum chemerin levels were significantly higher in the patient group than in the control group (p=0.004). Serum chemerin levels were positively correlated with CIMT (p<0.05). There was a significant difference between the groups with regard to CIMT (p<0.001). Conclusion: Elevated serum chemerin levels appear to be associated with CIMT, thus suggesting that a link exists between chemerin and atherosclerotic ischemic cerebrovascular disease.


2006 ◽  
Vol 16 (Suppl 1) ◽  
pp. 448-451 ◽  
Author(s):  
M. Aban ◽  
M. Arslan ◽  
E. Tok ◽  
S. Tekes ◽  
T. Budak ◽  
...  

We investigated the association of CYP17 gene polymorphism with the risk of having endometrial cancer and a well-known precursor of it, endometrial hyperplasia. Group A (control group) consisted of 35 patients who had histologically proven normal endometrium. Group B and C consisted of 18 and 30 patients who had endometrial hyperplasia with and without atypia, respectively. Group D consisted of 57 patients who had endometrial cancer. Venous blood samples were collected from patients in groups, and polymerase chain reaction was performed to determine the CYP17 gene polymorphism. Significant increase of A1/A1 and a decrease of A1/A2 genotype frequencies have been determined in patients with endometrial cancer and with atypical endometrial hyperplasia. No significant differences were found between groups in the frequency of A2/A2 genotype. There was no significant difference between the groups in the meaning of allele distributions. CYP17 polymorphism had correlation with endometrial atypia and cancer. Related effects of different types of CYP17 gene variants on the progression of hyperplastic endometrial cells into carcinoma should be evaluated in further studies. Progress in this area would help us modulate preventive treatments used in those actual high–risk group patients.


Neurology ◽  
1999 ◽  
Vol 53 (6) ◽  
pp. 1308-1308 ◽  
Author(s):  
M. O. McCarron ◽  
D. Delong ◽  
M. J. Alberts

2020 ◽  
Vol 9 (1) ◽  
pp. 43
Author(s):  
Yedy P. Sukmawan

Lumbrokinase has been used to treat stroke and cardiovascular disease. Fibrinogen elevation is a known risk factor and a powerful predictor of ischemic cerebrovascular disease. The objective of this study was to conduct a systematic review and meta-analysis of the effects of lumbrokinase treatment on fibrinogen concentration and blood and plasma viscosities. The search strategy included articles indexed by PubMed and other resources (Google Search), using medical subject headings (MeSH) and text words. A total of 185 articles were identified; however, only two articles were included in the final analysis, including 727 patients. The results demonstrated a significant reduction in the fibrinogen concentration (–0.67, 95% confidence interval [95% CI] [–1.22, –0.12]; p=0.02) and a significant reduction in plasma viscosity (–0.77, 95% CI [–1.06, –0.48]; p=0.00001) for the lumbrokinase-treatment group compared with the control group. However, no significant difference in blood viscosity was observed between the two groups (–0.61, 95% CI [–1.33, 0.11]; p=0.10). Lumbrokinase may be effective as an adjuvant drug alongside the standard treatment for ischemic cerebrovascular disease. However, these results should be interpreted with caution due to high heterogeneity, and further randomized controlled trials are necessary.Keywords: Fibrinogen, ischemic cerebrovascular disease, lumbrokinase Lumbrokinase Menurunkan Konsentrasi Fibrinogen pada Pasien Penyakit Iskemik Serebrovaskular: Kajian Sistematik dan Meta-AnalisisAbstrakLumbrokinase telah digunakan untuk penatalaksanaan strok dan penyakit kardiovaskular. Peningkatan konsentrasi fibrinogen telah diketahui sebagai faktor risiko dan prediktor yang sangat kuat untuk penyakit iskemik serebrovaskular. Tujuan review sistematik dan meta-analisis ini adalah untuk menganalisis efek lumbrokinase terhadap konsentrasi fibrinogen, viskositas darah dan viskositas plasma. Strategi pencarian artikel meliputi pencarian artikel pada database PubMed dan sumber lainnya (Worldwide Website/Google Search) dengan menggunakan medical subject heading (MeSH) dan textword. Sebanyak 185 artikel teridentifikasi, tetapi hanya 2 artikel (melibatkan 727 pasien) yang memenuhi kriteria inklusi. Hasil analisis menunjukkan bahwa lumbrokinase dapat menurunkan konsentrasi fibrinogen dibandingkan terhadap kelompok kontrol (–0,67, 95% CI [–1,22, –0,12] ; p=0,02). Selain itu, lumbrokinase juga dapat menurunkan viskositas plasma secara signifikan bila dibandingkan dengan kelompok kontrol (–0,77, 95% confidence interval [95% CI] [–1,06, –0,48]; p=0,00001). Efek lumbrokinase terhadap viskositas darah, meskipun terjadi penurunan terhadap viskositas darah, tidak menunjukkan signifikansi bila dibandingkan kelompok kontrol (–0,61, 95% CI [–1,33, 0,11]; p=0,10). Lumbrokinase mungkin efektif untuk penyakit iskemik serebrovaskular, namun hasil ini harus diinterpretasikan dengan hati-hati disebabkan heterogenitas yang tinggi, selain itu diperlukan lebih banyak penelitian dengan desain randomized controlled trial.Kata kunci: Fibrinogen, lumbrokinase, penyakit iskemik serebrovaskular


Sign in / Sign up

Export Citation Format

Share Document