Arleta Drozd

Analysis for genotyping Duffy blood group in inhabitants of Sudan, the Fourth Cataract of the Nile

BackgroundGenetic polymophisms of the Duffy antigen receptor for the chemokines (DARC) gene successfully protected against blood stage infection by Plasmodium vivax infection. The Fy (a-, b-) phenotype is predominant among African populations, particularly those originating from West Africa, and it is rare among non-African populations. The aim of this study was to analyse the frequency of four Duffy blood groups based on SNPs (T-33C, G125A, G298A and C5411T) in two local tribes of Sudanese Arabs, the Shagia and Manasir, which are both from the region of the Fourth Nile cataract in Sudan.MethodsAn analysis of polymorphisms was performed on 217 individuals (126 representatives of the Shagia tribe and 91 of the Manasir). Real-time PCR and TaqMan Genotyping Assays were used to study the prevalence of alleles and genotypes.ResultsThe analysis of allelic and genotype frequency in the T-33C polymorphisms demonstrated a significant dominance of the C allele and CC genotype (OR = 0.53 [0.32-0.88]; p = 0.02) in both tribes. The G125A polymorphism is associated with phenotype Fy(a-, b-) and was identified in 83% of Shagia and 77% of Manasir. With regard to G298A polymorphisms, the genotype frequencies were different between the tribes (p = 0,002) and no single AA homozygote was found. Based on four SNPs examined, 20 combinations of genotypes for the Shagia and Manasir tribes were determined. The genotype CC/AA/GG/CT occurred most often in Shagia tribe (45.9%) but was rare in the Manasir tribe (6.6%) (p < 0.001 Shagia versus Manasir). The FY*AES allele was identified in both analysed tribes. The presence of individuals with the FY*A/FY*A genotype was demonstrated only in the Shagia tribe.ConclusionThis is probably the first report showing genotypically Duffy-negative people who carry both FY*BES and FY*AES . The identification of the FY*AES allele in both tribes may be due to admixture of the non-African genetic background. Taken as a whole, allele and genotype frequencies between the Shagia and the Manasir were statistically different. However, the presence of individuals with the FY*A/FY*A genotype was demonstrated only in the Shagia tribe.

Metabolites of arachidonic acid and linoleic acid in early stages of non-alcoholic fatty liver disease—A pilot study

BACKGROUND Nonalcoholic fatty liver disease (NAFLD) is a spectrum of liver conditions related to fat infiltration. The role of liver triacylglycerol accumulation in NAFLD is not fully understood. METHODS Twenty-four patients, 12 in the first and 12 in the second stage of NAFLD, were prospectively enrolled in this study. Biochemical parameters and eicosanoids (HETE and HODE) were compared between the first and the second stage of hepatic steatosis and the effect of a 6-month dietary intervention on these parameters was evaluated. Eicosanoid profiles were extracted from 0.5 ml of plasma using solid-phase extraction RP-18 SPE columns. The HPLC separations were performed on a 1260 liquid chromatograph. RESULTS Patients with stage I NAFLD had a significantly higher level of HDL cholesterol and a lower level of 5-HETE. Patients with grade II steatosis had higher concentrations of 9-HODE. Following the six-month dietary intervention, hepatic steatosis resolved completely in all patients. This resulted in a significant decrease in the concentrations of all eicosanoids (LX4, 16-HETE, 13-HODE, 9-HODE, 15-HETE, 12-HETE, 5-oxoETE, 5-HETE) and key biochemical parameters (BMI, insulin, HOMA-IR, liver enzymes). CONCLUSION A significant reduction in the analyzed eicosanoids and a parallel reduction in fatty liver confirmed the usefulness of HETE and HODE in the assessment of NAFLD.

Effect of IGF-I and TNF-α on intensification of steroid pathways in women with PCOS phenotypes are not identical. Enhancement of progesterone pathway in women with PCOS increases the concentration of TNF-α.

Abstract Objective: The aim of this study was to determine the correlations between the concentration of tumor necrosis factor (TNF-α) and insulin-like growth factor I (IGF-I) in each woman with polycystic ovary syndrome (PCOS) phenotypes based on the levels of androgen. Methods: Two groups of women with PCOS differing in their levels of androgens. The test group composed of 39 women with PCOS according to the Rotterdam criteria in their reproductive age. The hormonal levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), thyroid stimulating hormone (TSH), prolactin (PRL), androstenedione, testosterone (T), estradiol (E2) and sex hormone binding globulin (SHBG) were measured. Correlations analysis were performed calculating Spearman’s rank correlation coefficient of hormones with relation to TNF-α and IGF-I. Results: There was a medium positive correlation of IGF-1 with LH levels (p < 0.05) and negative medium correlation of TNF-α with of dehydroepiandrosterone (DHEA)-SO4 levels (p < 0.05) only in group of PCOS women with elevated androgens. Conclusion: Analysis of TNF-α showed that women with high testosterone negative correlation between level of TNF-α and the concentration of DHEA-SO4. Inflammatory state involving TNF-α in women with PCOS and high concentration of androgens is caused by intensified Δ4 (progesterone) pathway and omitted or limited Δ5 (dehydroepiandrosterone) pathway of testosterone biosynthesis.

Fatty acid changes help to better understand regression of nonalcoholic fatty liver disease.

AIM To investigate whether liver steatosis reduction due to a six-month dietary intervention results in significant changes in the concentrations of fatty acids. METHODS A group of 35 Caucasian individuals diagnosed with different levels of steatosis were prospectively enrolled in the present study. Analysis of the fatty acid profiles was performed according to changes in liver steatosis (liver steatosis reduction by one or two degrees) after a six-month dietary intervention. The diet helped reduce body mass in obese and overweight patients, and stabilize both glycemia and dyslipidemia. Fatty acids were extracted according to the Folch method and analyzed by gas chromatography. RESULTS This study showed significant changes in fatty acid profiles in patients who had reduced liver steatosis by one as well as two degrees. A reduction in liver steatosis by one degree caused a significant increase in the level of the n-3 family: eicosapentaenoic acid (P < 0.055), docosapentaenoic acid-C 22:5 (P < 0.05) and docosahexaenoic acid (P < 0.05). A reduction in liver steatosis by two degrees caused a significant decrease in serum palmitoleic acid-C 16:1 (P < 0.05). CONCLUSION Liver steatosis reduction is associated with changes in fatty acid profiles, and these changes may reflect an alteration in fatty acid synthesis and metabolism. These findings may help better understand regression of nonalcoholic fatty liver disease.

Analysis of the genetic variants of glucose-6-phosphate dehydrogenase in inhabitants of the 4th Nile cataract region in Sudan

Malaria is one of the most common diseases in the African population. Genetic variance in glucose dehydrogenase 6-phosphate (G6PD) in humans determines the response to malaria exposure. In this study, we aimed to analyze the frequency of two single-nucleotide polymorphisms (G202A and A376G) present in two local tribes of Sudanese Arabs from the region of the 4th Nile cataract in Sudan, the Shagia and Manasir. The polymorphisms in G6PD were analyzed in 217 individuals (126 representatives of the Shagia tribe and 91 of the Manasir tribe). Real-time PCR and RFLP-PCR were utilized to analyze significant differences in the prevalence of alleles and genotypes. The 202A G6P allele frequency was 0.7%, whereas the G202 variant was found in 93.3% of cases. The AA, GA, and GG genotype frequencies for the A376G G6PD codon among the Shagia were 88, 11.1, and 0.9%, respectively; this is similar to the distribution among Manasir tribe representatives (94.5, 3.3, and 2.2%, respectively; OR 3.44 [0.85-16.17], p=0.6). Notably, in north-eastern Sudan the G6PD B (202G/376A) compound genotype frequency was 90.3%, whereas the G6PD A variant (202G/376G) was found in 1.4% of that population. Identification of the G6PD A- variant (202A/376G) in the isolated Shagia tribe provides important information regarding the tribal ancestry. Taken together, the data presented in this study suggest that the Shagia tribe was still nomadic between 4000 and 12,000 years ago. Moreover, the lack of G6PD A- genotype among ethnically diverse Monasir tribesmen indicates a separation of the Shagia from the other tribes in the region of the 4th Nile cataract in Sudan.

Seeking Optimal Nutrition for Healthy Body Mass Reduction Among Former Athletes

Abstract The aim of the study was to investigate the efficacy of 6 week Mediterranean diet or 30% calorie restriction on the fatty acid profile and eicosanoids (hydroxyoctadecadienoi acids and hydroxyeicosatetraenoic acids) concentration. Furthermore, basic biochemical variables such as insulin, glucose, HOMA-IR, and a lipid profile were estimated. The study enrolled 94 Caucasian former athletes aged 20-42, with body height of 179 ± 16.00 cm and body mass of 89.26 ± 13.25 kg who had not been active for at least 5 years. The subjects were randomly assigned to one of the three intervention groups: CR group – the 30% calorie restriction (n = 32), MD group - the Mediterranean diet (n = 34), and C group - a control group (n = 28). The pattern of nutrition was analysed before and after the experiment using the 72 h food diaries. In order to evaluate the effect of diet intervention, the following variables were measured: anthropometrics, basic biochemical variables (insulin, fasting glucose, HOMA-IR, lipid profile), fatty acids and their blood derivatives profiles. The CR group showed significantly lower levels of several biochemical variables, i.e., BMI, total cholesterol LDL, TG, total lipids, insulin and HOMA – IR (p < 0.05). Subjects consuming the MD diet significantly decreased their BMI and reduced the level of total lipids (p < 0.05). We did not find any significant changes in the C group. The analysis of the fatty acid profile revealed that the CR group had a significantly decreased EPA level (p < 0.05). The MD group showed a significantly increased level of the DHA (p < 0.05) and improvement in the omega - 3 index (p < 0.05). Subjects following the MD also showed significantly lower concentrations of 15 - hydroxyicosatetraenoic acid (15-HETE). We did not observe any significant differences between the CR and C groups. Within short time, calorie restriction helps to improve lipid variables and insulin resistance. The MD diet seems to be more advantageous in the decrease of inflammation, but does not improve basic biochemical variables. We can conclude that calorie restriction can be a good choice for former athletes, although EPA and DHA supplementation is needed.

Kidney Allograft Telomere Length Is Not Associated with Sex, Recipient Comorbid Conditions, Post-Transplant Infections, or CMV Reactivation.

BACKGROUND Immunosenescence is closely linked to chromosome telomere erosion and telomerase activity alterations. The aim of this study was to analyze the associations of relative telomere length (RTL) of a graft with sex, comorbid conditions, post-transplant infections, and CMV reactivation among transplanted kidney recipients. Additionally, the associations of donor and recipient hTERT, BICD1 genes and chromosome 18 polymorphisms with post-transplant infections were analyzed, including the analysis of donor-recipient genotype pairs. MATERIAL AND METHODS The study enrolled 119 white Polish kidney allograft recipients (64M/55F, mean age 47.3±14.0). The RTL was assessed by modification of a method developed by Cawthon, using a qPCR system. To identify genotypes of the studied polymorphisms, real-time PCR was performed. RESULTS There were no significant associations between graft RTL and sex of donor and recipient, comorbid DM and AH, as well as post-transplant infections and CMV reactivation. There were no statistically significant differences in distribution of hTERT, BICD1 genes and chromosome 18 graft and recipient polymorphisms genotypes between individuals with post-transplant infection and those without infection. The rs2735940 CX-TT hTERT gene donor-recipient genotypes combination was associated with higher risk of post-transplant infection on the border of statistical significance (OR=4.632, 95%CI (0.853-25.14); p=0.067). CONCLUSIONS Assessment of kidney allograft RTL does not show its association with sex, DM, AH, post-transplant infection, or CMV reactivation in the recipients, suggesting that other factors, probably directly related to the transplantation procedure, have a greater effect on telomere length.

Activity of Selected Antioxidant Enzymes, Selenium Content and Fatty Acid Composition in the Liver of the Brown Hare (Lepus europaeus L.) in Relation to the Season of the Year

The aim of the study was to evaluate the effect of low concentrations of selenium in the environment on the activity of selected antioxidant enzymes: Se-GSHPx, total GSHPx, SOD, CAT, and GST as well as fatty acid profile in the livers of brown hares during winter and spring. Liver tissues obtained from 20 brown hares collected in the north-eastern Poland in the winter and spring season were analyzed. In the tissue analyzed, a significantly lower level of selenium was noticeable in the spring compared to winter; however, values measured in both seasons indicated a deficiency of this element in the analyzed population of brown hares. There were no differences found that could indicate the influence of Se deficiency on the activity of antioxidant enzymes. The determined activity of antioxidant enzymes and fatty acid composition suggest a negligible impact of the low concentration of Se on the analyzed biochemical parameters of brown hare livers.

An association between lactose intolerance and anthropometric variables in the Sudanese Shagia tribe (East Africa)

Abstract Background: The culture of contemporary Sudanese tribes is not homogeneous. One of the three main tribes in northern Sudan is the Shagia tribe. This study is part of the large-scale research project to anthropologically and genetically describe the Shagia population, who inhabited three villages in an isolated region of the Fourth Nile Cataract. This population is extremely homogeneous as a result of geographical, genetic and cultural isolation. Aim: The aim of the study was to analyse the frequency of two single nucleotide polymorphisms (SNPs), C/T-13910 and G/C-14010, within the isolated population. These SNPs are closely associated with lactase persistence. In addition, this study has correlated the SNPs with anthropometric measurements. Subjects and methods: Buccal swabs were collected from 126 subjects. The DNA was extracted and the occurrence of the two alleles at each SNP was analysed using real-time PCR. An anthropometric examination of 64 adult individuals was used for an analysis of body measurements and proportions. Results: At the C/T-13910 SNP, the CT genotype frequency was 3.2%, whilst 96.8% of individuals were homozygous for the C allele. The presence of the T allele showed a strong association with body mass index (BMI) and waist circumference. At the G/C-14010 locus, all the examined subjects were homozygous for the G allele. Conclusions: The C/T-13910 polymorphism correlated with anthropometric measurements. Identification of the T allele of C/T-13910, in this isolated tribe, may be linked to their previously nomadic lifestyle and could provide important information on the ancestry of the tribe and the admixture of European genes.

Changes in the IGF-1 and TNF-α synthesis pathways before and after three-month reduction diet with low glicemic index in women with PCOS

OBJECTIVES An increase in IGF-I and TNF-α may be a cardioprotective effect. To examine the relationships between IGF-I and TNF-α and test the anthropometric and biochemical parameters before and after a low-glycemic index reduction diet using a correlation matrix. MATERIAL AND METHODS Twenty-two women diagnosed with PCOS according to Rotterdams criteria were eligible for this study, which analysed the results before and after a three months dietary intervention. Body composition measurements were determined by bioimpedance and performed twice, along with the labelling of lipid, carbohydrate and hormonal profiles. IGF-I and TNF-α were also determined in the serum. RESULTS Before dietary intervention, a significant correlation was observed. A correlation was also noted between the increase in TNF-α and DHEA-SO4, FSH, glucose level and total cholesterol. The increase in IGF-I was not related to anth-ropometric measurements: however, its concentration was observed to be related to the level of SHBG and HDL. After dietary intervention, the correlation between TNF-α and muscle mass percentage was confirmed, as was the correlation between WHR and fasting blood glucose levels. A significant negative correlation was observed between extracellular water, provided in litres, and SHBG level. CONCLUSIONS One important role of IGF-I in PCOS pathogenesis is the stimulation of increased synthesis of SHBG and HDL. The increased level of IGF-I after the reduction diet had a cardioprotective effect. TNF-α inhibits FSH synthesis, preventing the growth of numerous follicles. Its synthesis is also related to DHEA-SO₄. After three-month reduction diet does not significantly reduce TNF-α.