scholarly journals Distribution of apolipoprotein E gene polymorphism in students and in high-educated elderly from Serbia

Genetika ◽  
2013 ◽  
Vol 45 (3) ◽  
pp. 865-872
Author(s):  
Nela Maksimovic ◽  
Ivana Novakovic ◽  
Vesna Ralic ◽  
Elka Stefanova
Keyword(s):  
Gene Polymorphism ◽  
Apolipoprotein E ◽  
Apoe Genotype ◽  
Human Populations ◽  
Nucleotide Polymorphisms ◽  
Gene Encoding ◽  
Genetic Determination ◽  
Asian Populations ◽  
Significant Difference ◽  
Older Populations

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.

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 ◽  
...  
Keyword(s):  
Risk Factor ◽  
Gene Polymorphism ◽  
Cerebrovascular Disease ◽  
Apolipoprotein E ◽  
Apoe Genotype ◽  
Control Group ◽  
Ischemic Cerebrovascular Disease ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
E4 Allele

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..

scholarly journals Investigation of the Correlation between Graves’ Ophthalmopathy and CTLA4 Gene Polymorphism

2019 ◽  
Vol 8 (11) ◽  
pp. 1842 ◽  
Author(s):  
Ding-Ping Chen ◽  
Yen-Chang Chu ◽  
Ying-Hao Wen ◽  
Wei-Tzu Lin ◽  
Ai-Ling Hour ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Regulatory Gene ◽  
Genotype Frequency ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Exon 2 ◽  
Graves Ophthalmopathy ◽  
Potential Marker ◽  
Significant Difference ◽  
Ctla4 Gene

Graves’ disease (GD) is an autoimmune inflammatory disease, and Graves’ ophthalmopathy (GO) occurs in 25–50% of patients with GD. Several susceptible genes were identified to be associated with GO in some genetic analysis studies, including the immune regulatory gene CTLA4. We aimed to find out the correlation of CTLA4 gene polymorphism and GO. A total of 42 participants were enrolled in this study, consisting of 22 patients with GO and 20 healthy controls. Chi-square or Fisher’s exact test were used to appraise the association between Graves’ ophthalmopathy and CTLA4 single nucleotide polymorphisms (SNPs). All regions of CTLA4 including promoter, exon and 3’UTR were investigated. There was no nucleotide substitution in exon 2 and exon 3 of CTLA4 region, and the allele frequencies of CTLA4 polymorphisms had no significant difference between patients with GO and controls. However, the genotype frequency of “TT” genotype in rs733618 significantly differed between patients with GO and healthy controls (OR = 0.421, 95%CI: 0.290–0.611, p = 0.043), and the “CC” and “CT” genotype in rs16840252 were nearly significantly differed in genotype frequency (p = 0.052). Haplotype analysis showed that CTLA4 Crs733618Crs16840252 might increase the risk of GO (OR = 2.375, 95%CI: 1.636–3.448, p = 0.043). In conclusion, CTLA4 Crs733618Crs16840252 was found to be a potential marker for GO, and these haplotypes would be ethnicity-specific. Clinical application of CTLA4 Crs733618Crs16840252 in predicting GO in GD patients may be beneficial.

The investigation of BTLA single-nucleotide polymorphisms in patients with Behcet disease in Elazıg province

2020 ◽  
Vol 45 (3) ◽  
pp. 323-327
Author(s):  
Yasin Cetin ◽  
Nafiye Fulya Ilhan ◽  
Deniz Sen ◽  
Sevim Karakas Celik
Keyword(s):  
Lymphocyte Activation ◽  
Behçet Disease ◽  
Nucleotide Polymorphisms ◽  
Behcet Disease ◽  
Gene Encoding ◽  
Mortality And Morbidity ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Risk Of Disease ◽  
And Control

AbstractObjectiveBehcet Disease (BD) is a systemic chronic autoinflammatory disorder that significantly increases mortality and morbidity. Although B- and T-lymphocyte attenuator (BTLA) is important in regulating lymphocyte activation during inflammation and infection, it is unclear whether any polymorphism in the gene encoding the BTLA is associated with autoimmune diseases and cancer. The goal of the study was to research the relationship between the alleles, genotypes and haplotypes frequencies of chosen BTLA gene polymorphisms (rs184489 and rs9288952) and the risk of Behcet disease.Materials and methodsThe population of this study consisted of 108 patients with BD and 108 healthy controls. Genotyping for the rs184489 and rs9288952 polymorphisms were performed using PCR-RFLP method.ResultsIn terms of genotype and allele frequencies between the patient and control groups, there were no statistically significant differences (p > 0.05). However, there was a statistically significant difference in haplotype analysis between the two groups (p = 0.001). Moreover, carrying the T allele for the rs1844089 polymorphism and C allele for the rs9288952 polymorphism increase the risk of disease.ConclusionOur findings propose that CT haplotype might have a potential function in the susceptibility to BD.

scholarly journals Apolipoprotein E gene determines serum testosterone and dehydroepiandrosterone levels in postmenopausal women

2002 ◽  
pp. 503-506 ◽  
Author(s):  
I Zofkova ◽  
K Zajickova ◽  
M Hill ◽  
A Horinek
Keyword(s):  
Apolipoprotein E ◽  
Apoe Genotype ◽  
Multiple Comparisons ◽  
Serum Testosterone ◽  
Dose Effect ◽  
Genotype Distribution ◽  
Testosterone Levels ◽  
Significant Difference ◽  
E4 Allele ◽  
Allele Combination

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].

scholarly journals Association Analysis for Neuronal Nitric Oxide Synthase Gene Polymorphism with Plasma Nitrite/Nitrate Concentration in Schizophrenia

2014 ◽  
Vol 33 (4) ◽  
pp. 364-370 ◽  
Author(s):  
Vladimir V. Đorđević ◽  
Tatjana Jevtović-Stoimenov ◽  
Dušan Lazarević ◽  
Ivana Stojanović ◽  
Ljiljana Trajanović ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Gene Polymorphism ◽  
Nitrate Concentration ◽  
Polymerase Chain Reaction Analysis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Significant Difference ◽  
And Gender ◽  
Nitrite Nitrate ◽  
Plasma Nitrite

Summary Background: Single nucleotide polymorphisms (SNP) of many genes, including the gene for neuronal nitric oxide syn-thase (NOS1), were found significantly associated with schizo-phrenia. According to our previously published results of increased plasma nitric oxide concentration in patients with schizophrenia, we hypothesized that the NOS1 gene polymorphism might be a cause of increased nitric oxide production in patients with schizophrenia and tested the interdependence between plasma nitrite/nitrate concentrations and SNP (a CT transition located in exon 29) of the human NOS1 gene. Methods: Nitrite/nitrate concentration was measured in blood plasma of 38 patients with schizophrenia and of 39 age and gender matched healthy persons by the colorimet-ric test. The NOS1 gene polymorphism was determined by polymerase chain reaction analysis. Results: A significantly higher plasma nitrite/nitrate concentration was found in patients with schizophrenia (97.5±33.3 μmol/L, p<0.001) in comparison with controls (61.4±18.9 μmol/L). No T/T genotype was found in healthy individuals and there was a significant difference in the genotype distribution between patients and controls (χ2=24.54, p=0.0000047). Furthermore, a significant difference in the allele frequencies between patients and controls (χ2=19.00, p<0.000013, OR=4.45, 95% CI=2.12–9.39) was noted. Also, a significant difference in plasma nitrite/nitrate concentration was observed between patients having the C/T genotype (99.97±33.83 μmol/L) and the corresponding control (C/T) subgroup (63.88±10.26 μmol/L, p<0.01). However, there were no significant differences in nitrite/nitrate concentration between the patient subgroups with different genotypes (C/C, C/T, T/T). Conclusions: CT transition located in exon 29 of the human NOS1 gene may be responsible for the increased plasma nitrite/nitrate levels.

Plasma interleukin-22 level, variants in interleukin-22 gene polymorphism, and the severity of systemic lupus erythematosus among Egyptian pediatric and adolescents

Lupus ◽  
2021 ◽  
pp. 096120332110423
Author(s):  
Zeinab R Attia ◽  
Mohamed M Zedan ◽  
Thuraya M Mutawi ◽  
Entsar A Saad ◽  
Mohamed A El Basuni
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Regression Analysis ◽  
Gene Polymorphism ◽  
Lupus Erythematosus ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Interleukin 22 ◽  
Increased Risk ◽  
Significant Difference ◽  
First Time

Objectives Our purpose was to investigate, for the first time, genotypes and alleles distribution of two single nucleotide polymorphisms (SNPs) of interleukin 22 (IL-22) (rs1012356 and rs2227485) in Egyptian pediatric and adolescents with systemic lupus erythematosus (SLE) and to evaluate the plasma IL-22 levels and their association with gene polymorphism and SLE risk and severity. Methods The TaqMan™ SNP genotyping assay on a real-time polymerase chain reaction (PCR) system was employed to evaluate the polymorphism’s genotypes. Plasma IL-22 levels were determined by using an enzyme-linked immunoabsorbent assay (ELISA). Results The frequencies and genotypes of rs2227485 and rs1012356 in IL-22 between SLE patients and controls also haplotypes formed by the same SNPs revealed no statistically significant difference ( p > 0.05). Otherwise, logistic regression analysis revealed that patients carrying rs1012356 “TA + AA” genotype had increased risk for prediction of SLE activity (OR = 1.610, 95% CI = 1.339–2.760, p = 0.034) by lowering plasma IL-22 level. Conclusions Among Egyptian pediatric and adolescents, we confirm a combined model “TA + AA” in rs1012356 (A/T) of IL-22 in regression analysis, as an independent predictor for SLE activity by lowering IL-22 plasma levels. Despite neither SNP rs2227485 A/G in IL-22 gene nor haplotypes formed by the same two SNPs (rs2227485 A/G and rs1012356 A/T) were significantly associated with the clinical and/or laboratory manifestations of SLE.

scholarly journals Presence of the apolipoprotein E-ε4 allele is associated with an increased risk of sepsis progression

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Yiming Shao ◽  
Tian Zhao ◽  
Wenying Zhang ◽  
Junbing He ◽  
Furong Lu ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Apolipoprotein E ◽  
Large Sample Size ◽  
Mrna Levels ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Group 13 ◽  
Protein Levels ◽  
Lps Challenge ◽  
Increased Risk

Abstract Growing evidence indicated that single nucleotide polymorphisms (SNPs) in the apolipoprotein E (APOE) gene are related to increase the risk of many inflammatory-related diseases. However, few genetic studies have associated the APOE gene polymorphism with sepsis. This study was to investigate the clinical relevance of the APOE gene polymorphism in the onset and progression of sepsis. A multicenter case–control association study with a large sample size (601 septic patients and 699 healthy individuals) was conducted. Clinical data showed that the APOEε4 allele was overrepresented among all patients with septic shock (p = 0.031) compared with sepsis subtype, suggesting that APOEε4 allele may associated with increased susceptibility to the progression of sepsis. Moreover, the APOE mRNA levels decreased after lipopolysaccharide (LPS) stimulation in cells in culture. Then 21 healthy individuals to extract PBMC for genotype grouping (APOE4+ group 8; APOE4− group 13) was selected to evaluate the effect on APOE level, and results showed that the expression level of APOE in APOE4+ group and APOE4− group did not differ in mRNA levels after an LPS challenge, but the protein levels in APOE4+ group decreased slower than that in APOE4− group, and this process was accompanied by the upregulation of proinflammatory cytokines. These results provide evidence that the APOEε4 allele might be associated with the development of sepsis and a potential risk factor that can be used in the prognosis of sepsis.

scholarly journals T45G Adiponectin Gene Polymorphism and its Association with Hyperglycemia in Adult Filipinos Seen at the Philippine General Hospital – A Pilot Study

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Elizabeth Paz-Pacheco ◽  
Eva Maria Cutiongco-dela Paz ◽  
Angelique Bea C. Uy
Keyword(s):  
Gene Polymorphism ◽  
Subsequent Development ◽  
Tolerance Test ◽  
P Value ◽  
Oral Glucose ◽  
Nucleotide Polymorphisms ◽  
Adiponectin Gene ◽  
Gene Encoding ◽  
Exon 2 ◽  
Matched Case

Introduction. Adiponectin is an adipocytokine known to have anti-inflammatory and anti-atherogenic effects. It appears to impact insulin resistance and the subsequent development of type 2 diabetes mellitus (T2D). The gene encoding adiponectin ADIPOQ, has single nucleotide polymorphisms (SNPs) that can be useful biomarkers to predict development of T2D; with the T/G polymorphism of SNP +45 in exon 2 being the most common.Objective. This study was conducted to evaluate the association of T45G adiponectin gene polymorphism with hyperglycemia among adult Filipinos seen at the outpatient department of the Philippine General Hospital.Methods. This is a matched case-control study, with duration of 12 months. DNA was extracted using the QIAGEN MIDI Blood Extraction Kit. The genomic DNA obtained was then subjected to real time PCR for SNP detection.Results. One hundred (100) adults were enrolled; forty-three (43) had normoglycemia, while fifty seven (57) had hyperglycemia, after a 75-g oral glucose tolerance test. Hyperglycemic subjects were older (44±15.6 years vs. 52±8.3 years, p-value 0.002), and had lower HDL levels (58.5±16.0 mg/dLvs. 47.8+11.8 mg/dL, p-value 0.000). Among thirty-nine (39) participants found to have the T45G adiponectin gene polymorphism, 22 or 56.4% were hyperglycemic while 17 or 43.6% were normoglycemic.Conclusion. There was no significant association observed between the T45G SNP and presence of hyperglycemia.

Polymorphisms of apolipoprotein E; outcome and susceptibility in multiple sclerosis

2000 ◽  
Vol 6 (1) ◽  
pp. 32-36 ◽  
Author(s):  
S JM Weatherby ◽  
C LA Mann ◽  
M B Davies ◽  
D Carthy ◽  
A A Fryer ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Apolipoprotein E ◽  
Disease Duration ◽  
Age Of Onset ◽  
Neurological Diseases ◽  
Age At Onset ◽  
Apoe Genotype ◽  
Disease Process ◽  
Genotype Frequencies ◽  
Significant Difference

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.

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