Polymorphism Profiles Research Articles

Detection of the Association between ACE Gene Polymorphism and Lipid Profiles Level in Some Iraqi Hypertensive Patients

Detection of the Association between ACE Gene Polymorphism and Lipid Profiles Level in Some Iraqi Hypertensive Patients

Equine Herpesvirus Type 4 (EHV-4) Outbreak in Germany: Virological, Serological, and Molecular Investigations.

Equine herpesvirus type 4 (EHV-4) is enzootic in equine populations throughout the world. A large outbreak of EHV-4 respiratory infection occurred at a Standardbred horse-breeding farm in northern Germany in 2017. Respiratory illness was observed in a group of in-housed foals and mares, which subsequently resulted in disease outbreak. Out of 84 horses in the stud, 76 were tested and 41 horses were affected, including 20 foals, 10 stallions, and 11 mares. Virological investigations revealed the involvement of EHV-4 in all cases of respiratory illness, as confirmed by virus isolation, qPCR, and/or serological follow-up using virus neutralization test and peptide-specific ELISA. Among infected mares, 73% (8 out of 11) and their corresponding foals shed the virus at the same time. EHV-4 was successfully isolated from four animals (including one stallion and three foals), and molecular studies revealed a different restriction fragment length polymorphism (RFLP) profile in all four isolates. We determined the complete 144 kbp genome sequence of EHV-4 isolated from infected horses by next-generation sequencing and de novo assembly. Hence, EHV-4 is genetically stable in nature, different RFLP profiles, and genome sequences of the isolates, suggesting the involvement of more than one animal as a source of infection due to either true infection or reactivation from a latent state. In addition, epidemiological investigation revealed that stress caused by seasonal changes, management practices, routine equestrian activities, and exercises contributed as a multifactorial causation for disease outbreak. This study shows the importance of implementing stress alleviating measures and management practices in breeding farms in order to avoid immunosuppression and occurrence of disease.

Ecotoxicological effects of titanium dioxide nanoparticles and Galaxolide, separately and as binary mixtures, in radish (Raphanus sativus)

Nano-TiO2 and Galaxolide (HHCB) are continually released into the environment because they are common ingredients of personal care products. In this study, the effects of nano-TiO2 and HHCB, individually and as binary mixtures, on Raphanus sativus were investigated. Growth indices (germination rate, root length, and shoot elongation), random amplification of polymorphic DNA profiles of DNA damage in the seedling roots, and expression of genes related to DNA damage, repair, and the cell cycle were assessed. Radish germination was not affected by nano-TiO2 (5–200 mg L−1) but was inhibited by HHCB (≥50 mg L−1). Nano-TiO2 and HHCB both caused severe DNA damage, including DNA mismatch damage, DNA double-strand breaks, and chromosomal damage. The binary mixtures indicated antagonistic effects occurred, and 200 mg L−1 nano-TiO2 decreased the genetic toxicity of HHCB. Of the genes that were examined, MRE11 and WRKY40 were the most sensitive to nano-TiO2 and HHCB, indicating that these genes could be used as sensitive biomarkers for exposure of R. sativus to nano-TiO2 and HHCB. The results improve our understanding of the risks posed by nano-TiO2 and HHCB to R. sativus in particular and possibly to other plants.

Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups

To apply long-read, third-generation sequencing as a part of a general workup strategy for performing structural rearrangement (PGT-SR) and monogenic disease (PGT-M) embryo testing. Prospective study. Invitro fertilization unit. Couples presenting for PGT-SR (n = 15) and PGT-M (n = 2). Blastocyst biopsy with molecular testing for translocation breakpoints or mutations (targets). Detailed, parental-phased, single-nucleotide polymorphism (SNP) profiles around targets for selection of informative polymorphic markers to simplify and facilitate clinical preimplantation genetic testing (PGT) designs that enable discrimination between carrier and noncarrier embryos. High definition of chromosome breakpoints together with closely phased polymorphic markers was achieved for all 15 couples presenting for PGT-SR. Similarly, for the two couples presenting for PGT-M, tightly linked informative markers around the mutations were also simply identified. Three couples with translocations t(1;17)(q21;p13), t(3;13)(p25;q21.2), and t(12;13)(q23;q22) proceeded with PGT-SR, requesting preferential identification of noncarrier embryos for transfer. Following selection of a set of informative SNPs linked to breakpoints, we successfully performed PGT-SR tests, resulting in ongoing pregnancies with a noncarrier fetus for all couples. Similarly, with the use of tests based on informative SNPs linked to the parental mutations, one couple proceeded with PGT-M for maple syrup urine disease, resulting in an ongoing pregnancy with a disease-free fetus. For couples contemplating clinical PGT, variant haplophasing around the target reduces the workup process by enabling rapid selection of closely linked informative markers for patient-specific test design.

Single Immunoglobulin IL-1-Related Receptor (SIGIRR) Gene rs7396562 Polymorphism and Expression Level in Rheumatoid Arthritis.

Objectives The aim of our study was to investigate the association of single-nucleotide polymorphism (SNP) and mRNA expression profile of single immunoglobulin IL-1-related receptor (SIGIRR) in rheumatoid arthritis (RA) in a Chinese population. Methods SIGIRR rs7396562 polymorphism was genotyped using TaqMan allelic discrimination assay in 517 RA patients and 601 healthy controls. Simultaneously, the SIGIRR mRNA expression levels of 79 RA patients and 76 healthy controls were examined by real-time quantitative polymerase chain reaction (RT-qPCR). Results The frequency of SIGIRR rs7396562 T allele was significantly higher in RA patients compared with healthy controls (T versus G: OR = 1.277, 95%CI = 1.079 − 1.511, P = 0.004). The TT genotype of SIGIRR rs7396562 was more frequent in RA patients than in healthy controls (OR = 1.547, 95%CI = 1.107 − 2.163, P = 0.011). Moreover, we also found a significant difference in the recessive model (TT versus TG+GG: OR = 1.439, 95%CI = 1.122 − 1.847, P = 0.004). However, no significant evidence was observed for the association of the SIGIRR rs7396562 with RA in dominant model (TT+TG versus GG: OR = 1.275, 95%CI = 0.947 − 1.717, P = 0.109). Further analysis showed no association between SIGIRR rs7396562 polymorphism and laboratory parameters of RA patients (all P > 0.05). The mRNA expression of SIGIRR was decreased in PBMCs of patients with RA when compared to healthy controls (Z = −2.459, P = 0.014). No significant differences in SIGIRR mRNA expression levels were observed in patients with RA with different genotypes (P = 0.280). Conclusions Our findings demonstrated that the dysregulation of SIGIRR might be associated with the pathogenesis of RA, and SIGIRR rs7396562 polymorphism might contribute to RA susceptibility in the Chinese population.

Forensic nanopore sequencing of STRs and SNPs using Verogen's ForenSeq DNA Signature Prep Kit and MinION.

The MinION nanopore sequencing device (Oxford Nanopore Technologies, Oxford, UK) is the smallest commercially available sequencer and can be used outside of conventional laboratories. The use of the MinION for forensic applications, however, is hindered by the high error rate of nanopore sequencing. One approach to solving this problem is to identify forensic genetic markers that can consistently be typed correctly based on nanopore sequencing. In this pilot study, we explored the use of nanopore sequencing for single nucleotide polymorphism (SNP) and short tandem repeat (STR) profiling using Verogen’s (San Diego, CA, USA) ForenSeq DNA Signature Prep Kit. Thirty single-contributor samples and DNA standard material 2800 M were genotyped using the Illumina (San Diego, CA, USA) MiSeq FGx and MinION (with R9.4.1 flow cells) devices. With an optimized cutoff for allelic imbalance, all 94 identity-informative SNP loci could be genotyped reliably using the MinION device, with an overall accuracy of 99.958% (1 error among 2926 genotypes). STR typing was notably error prone, and its accuracy was locus dependent. We developed a custom-made bioinformatics workflow, and finally selected 13 autosomal STRs, 14 Y-STRs, and 4 X-STRs showing high consistency between nanopore and Illumina sequencing among the tested samples. These SNP and STR loci could be candidates for panel design for forensic analysis based on nanopore sequencing.Supplementary InformationThe online version contains supplementary material available at 10.1007/s00414-021-02604-0.

Character Improvement of Red Rice (Oryza Sativa L.) Cv. Barak Cenana by Mutagenesis using Gamma Irradiation

Red rice cv. Barak Cenana is a local Indonesian rice which is widely planted in Tabanan Regency, Bali. Barak Cenana red rice has potential as a functional food because it contains a lot of nutrients. However, this rice has an unfavorable character, such as long harvest time so that it can only be harvested once a year, and tall stature that causes plants to lodge easily, reducing its productivity. This study aims to determine the effect of gamma rays on growth and development as well as changes in character to obtain mutants plants that have better character. In this research, Barak Cenana seeds were irradiated using gamma rays with irradiation doses of 100 gy, 200 gy, 400 gy, and 800 gy. Furthermore, radiated seeds were planted in the greenhouse and characterized during the vegetative and generative phases including shoot length, harvest time, chlorophyll content, the number of productive tillers, the number of grain contents, the weight of 1,000 seeds, and the polymorphism profile using Random Amplified Polymorphic DNA Analysis (RAPD). The results of this study indicate that all radiation doses produce plants with random characters. Mutations using gamma rays at doses of 100 gy and 400 gy produced plants with better phenotypic characters than wild-type that is shorter plants, shorter harvest times, and more grain content. In addition, the results of the RAPD analysis confirm that there are genetic changes in irradiated rice. This mutants has the potential to reproduce germplasm and to obtain the next generation of mutants that have higher productivity and shorter plant heights.

ELİT KAYAKLI KOŞUCULARDA PPAR-A'NIN (RS4253778) SERUM LİPİTLERİ ÜZERİNDEKİ ETKİSİNİN İNCELENMESİ

The purpose of this study was to examine the effects of PPAR-a (rs4253778) on serum lipids in elite cross-country skiers. This study included 34 cross-country skiers (23 males and 11 females who participated in the Turkish skiing national team camp). Genotyping for the PPAR-a gene rs4253778 G/C polymorphism was performed by PCR on Tercyk multicanal amplificator and restriction enzyme digestion. Statistical analysis was done by using the SPSS 22.0 package program. Genotypic frequency of the PPAR-a polymorphism was detected in cross-country skiers. PPAR-a GG, GC and CC genotypes were detected as 67.64%, 23.52% and 8.82%, respectively in 34 cross-country skiers while PPAR-a GG, GC and CC genotypes were detected as 47.05%, 16.64%, and 2.94%, respectively in elite males. PPAR-a GG, GC and CC genotypes were detected as 20.58 %, 5.88%, and 5.88%, respectively in females. PPAR-a G and C allele were detected as 49 and 19, respectively in 34 elite endurance athletes. In the present study, the GG genotypes were detected at higher frequencies in elite athletes (67.64% respectively) than GC and CC (23.52% and 8.82%, respectively). The difference between the PPAR-a G/C gene polymorphism of Turkish elite cross-country skiers and serum total cholesterol, HDL- cholesterol, LDL- cholesterol and TG levels was not statistically significant. Although there was not any statistically significant difference between the PPAR-a G/C gene polymorphism and lipid profiles of Turkish elite cross-country skiers, it is foreseen that PPAR-α genes have an important effect on endurance performance in sports requiring endurance such as cross-country skiing.

Genetic Analysis of Candida glabrata from Candiduric Patients Using Microsatellite Length Polymorphism, Antifungal Susceptibility, and Enzymatic Profiles

Background: Candida glabrata is the second agent of candiduria with increased resistance to antifungals. Microsatellite length polymorphism (MLP) is one of the genotyping techniques used in the epidemiological investigation to improve clinical management. Objectives: We aimed to detect different genotypes of C. glabrata isolates using six microsatellite markers and the MLP technique. Moreover, our genotypes' association with other countries' genotypes was illustrated using a minimum spanning tree. We investigated in vitro antifungal susceptibility and enzymatic activity profiles of the isolates. Methods: Six microsatellite markers were amplified using multiplex-PCR for 22 C. glabrata strains isolated from urine in pediatric patients admitted to the Abuzar Children's Hospital in Ahvaz, Iran. The PCR products were presented for fragment analysis, and the size of the alleles was determined. Antifungal susceptibility tests and extracellular enzyme activities were also performed. Results: Nineteen multilocus genotypes were detected so that 22.7% of the strains had identical genotypes. The isolates were wild-type for amphotericin B (0.0625 - 2 µg/mL), itraconazole (0.125 - 2 µg/mL), and voriconazole (0.0078 - 0.00625 µg/mL). All the isolates were sensitive to fluconazole at the minimum inhibitory concentration (MIC) range (0.0312 - 16 μg/mL), and three of them were resistant to caspofungin (MIC ≥ 0.5 μg/mL). Moreover, 72.7 and 68.2% of the isolates had no phospholipase and esterase activities. The highest potency of enzymatic activity was obtained in hemolysin and proteinase enzymes. A high genetic diversity (19 genotypes of the 22 isolates) existed among the urinary C. glabrata isolates. Based on the minimum spanning tree, two clusters of our genotypes were related to C. glabrata genotypes in a previous study in Iran, and the third cluster was entirely connected with Chinese genotypes. Conclusions: Most of the isolates were the non-wild type for posaconazole but were rarely resistant to other antifungals. Hemolysin and proteinase secreted as the main virulence factors among the urinary C. glabrata isolates.

Detection of genetic divergence among some wheat (Triticum aestivum L.) genotypes using molecular and biochemical indicators under salinity stress.

Wheat has remarkable importance among cereals in Egypt. Salt stress affects plant growth, development, and crop productivity. Therefore, salinity tolerance is an essential trait that must be incorporated in crops. This research aimed to investigate molecular and biochemical indicators and defence responses in seedlings of 14 Egyptian wheat genotypes to distinguish the most contrasting salt-responsive genotypes. Analysis of ISSR and SCoT markers revealed high polymorphism and reproducible fingerprinting profiles for evaluating genetic variability within the studied genotypes. The HB-10 and SCoT 1 primers had the highest values for all the studied parameters. All the tested primers generated a set of 66 polymorphic bands among tolerant and sensitive genotypes. The transcript profiles of eight TaWRKY genes showed significant induction under the salinity treatments. Moreover, the expression of TaWRKY6 for genotypes Sids 14 and Sakha 93 sharply increased and recorded the highest expression, while the expression of TaWRKY20 for Misr 1 recorded the lowest expression. Under salt stress, the total sugar, proline, and phenolic contents increased significantly, while the chlorophyll content decreased significantly. Additionally, five peroxidase and polyphenol oxidase isoforms were observed in treated leaves and clustered into five different patterns. Some isoforms increased significantly as salinity levels increased. This increase was clearer in salt-tolerant than in salt-sensitive genotypes. Eighteen protein bands appeared, most of which were not affected by salinity compared with the control, and specific bands were rare. Generally, the Sids 14, Sakha 93, Sohag 4, and Gemmeiza 12 genotypes are considered salt tolerant in comparison to the other genotypes.

Molecular Origins of Polymorphism in Cocoa Butter.

Cocoa butter displays complex crystallization behavior and six crystal polymorphic forms. Although the crystal structure of cocoa butter has been studied extensively, the molecular interactions between cocoa butter triacylglycerols in relation to polymorphic transformations from metastable forms (forms III and IV) to stable crystal forms (forms V and VI) remain largely unknown. In this review, the triclinic polymorphism and melting profiles of the major triacylglycerols in cocoa butter-POP, POS, and SOS-are reviewed, and their binary and ternary phase behaviors in metastable (pseudoβ') and stable (β2) crystal forms are discussed. We also attempt to clarify how the transformation of cocoa butter from form IV to V, as a critical step in the tempering of chocolate, is controlled by POS interactions with both POP and SOS. Moreover, we show how the crystal forms V and VI of cocoa butter are templated by crystal forms β3 and β1 of POS, respectively.

Monitoring Commercial Starter Culture Development in Presence of Red Grape Pomace Powder to Produce Polyphenol-Enriched Fresh Ovine Cheeses at Industrial Scale Level

Red grape Nero d’Avola cultivar grape pomace powder (GPP) was applied during fresh ovine cheese production in order to increase polyphenol content. Before cheeses were produced, the bacteria of a freeze-dried commercial starter culture were isolated and tested in vitro against GPP. Two dominant strains, both resistant to GPP, were identified. Thestarter culture was inoculated in pasteurized ewe’s milk and the curd was divided into two bulks, one added with 1% (w/w) GPP and another one GPP-free. GPP did not influence the starter culture development, since lactic acid bacteria (LAB) counts were 109 CFU/g in both cheeses at 30 d. To exclude the interference of indigenous LAB, the pasteurized milk was analyzed, and several colonies of presumptive LAB were isolated, purified and typed. Four strains were allotted into Enterococcus and Lacticaseibacillus genera. The direct comparison of the polymorphic profiles of cheese bacteria evidenced the dominance of the starter culture over milk LAB. The addition of GPP increased cheese total phenolic compounds by 0.42 g GAE/kg. Sensory evaluation indicated that GPP-enriched cheese was well appreciated by the judges, providing evidence that GPP is a suitable substrate to increase the availability of total phenolic content in fresh ovine cheese.

Apolipoprotein-E Gene Polymorphism and Lipid Composition among IUGR and AGA Neonates.

Objective The objective of this study is to study the profile of apolipoprotein E ( APOE ) gene polymorphism and lipid profile among intrauterine growth restriction (IUGR) and appropriate for gestational age (AGA) neonates. This is an observational study. This study was done at the neonatal unit of a teaching hospital in South India. All consecutively born IUGR neonates (cases) of more than 32 weeks' gestational age and AGA neonates (controls) were enrolled for the study. Genomic DNA extraction was done from a total of 102 peripheral venous blood samples. Genotyping of the APOE rs429358 and rs7412 defining the ε2, ε3, and ε4 alleles was done by polymerase chain reaction-restriction fragment length polymorphism method. Prefeed venous blood was collected and analyzed for lipid profile estimation. The allelic frequencies of cases versus control were ε2-9 (8.7%) versus 3 (2.9%); ε3-88 (84.6%) versus 81 (79.4%); and ε4-7 (6.7%) versus 18 (17.6%). The frequency of ε4 isoform allele, associated with adult onset of metabolic diseases was less among the IUGR group. The mean total cholesterol (TC), Low-Density Lipoprotein (LDL), High-Density Lipoprotein, and triglyceride (TG) were 107.59 ± 35.99, 51.69 ± 24.68, 21.75 ± 9.58, and 151.22 ± 61.84 mg/dL, respectively, in the IUGR group. The mean TC and LDL levels in IUGR group were marginally higher than AGA neonates (107 ± 35.99 vs. 100.37 ± 22.69 mg/dL and 51.69 ± 24.68 versus 46.9 ± 19.51 mg/dL, p > 0.05). In both groups, the mean TC and TGL levels were elevated in the ε4 isoform subgroup ( p > 0.05). In our study, the ε2 allele was the second most predominant APOE isoform and the ε4 allele of the APOE gene associated with adult-onset diseases was not increased among IUGR neonates. Neonates with ε4 allele showed an abnormal lipid profile in both study groups suggesting a possible association.

This issue of Acta Feb 2021

This issue of Acta Feb 2021

Molecular Characterization and Genetic Diversity of Haplogroup E Human Lice in Guinea, West Africa.

Pediculus humanus capitis, the head louse, is an obligate blood-sucking ectoparasite that occurs in six divergent mitochondrial clades (A, D, B, F, C and E). Several studies reported the presence of different pathogenic agents in head lice specimens collected worldwide. These findings suggest that head louse could be a dangerous vector and a serious public health problem. Herein, we aimed to study the mitochondrial genetic diversity, the PHUM540560 gene polymorphisms profile of head lice collected in Guinea, as well as to screen for their associated pathogens. In 2018, a total of 155 head lice were collected from 49 individuals at the Medicals Centers of rural (Maférinyah village) and urban (Kindia city) areas, in Guinea. Specimens were subjected to a genetic analysis and pathogens screening using molecular tools. Results showed that all head lice belonged to eight haplotypes in the E haplogroup, with six newly identified for the first time. The study of the PHUM540560 gene polymorphisms of our clade E-head lice revealed that 82.5% exhibited the same polymorphism profile as the previously reported clade A-body lice. Screening for targeted pathogens revealed the presence of Acinetobacter spp., while sequencing highlighted the presence of several species, including Acinetobacter baumannii, Acinetobacter nosocomialis, Acinetobacter variabilis, Acinetobacter towneri and for the first time Acinetobacter haemolyticus. Our study is the first to report the existence of the Guinean haplogroup E, the PHUM540560 gene polymorphism profile as well as the presence of Acinetobacter species in head lice collected from Guinea.

Variability study of immune status modified by polymorphic genetic profile in women with pregnancy loss under hydroxybenzene exposure

The study was performed in Perm, an industrially developed Russian city where hydroxybenzene concentrations are excessive due to dust and gaseous emissions from non-ferrous metallurgic plants. Their concentrations exceed average daily and single maximally permissible amounts. Hydroxybenzene and its derivatives are hormone-like substances, thus being hazardous to female reproductive system. The goal of our study was to analyze variability of immune state influenced by polymorphic genetic profile of women with pregnancy loss under hydroxybenzene exposure. Chemical analysis of ambient air quality was performed according to MG 4.1.617-96 regulations. Biological samples were taken from 129 women with reproductive disorders at their fertile age during the five-year observation period. Hydroxybenzene contents in blood were detected with gas chromatography with inductively coupled plasma. The test group 1 included women with reproductive disorders and phenol contents in blood exceeding the reference level ( 0.016 mg/cm3 ). Test group 2 consisted of women with reproductive disorders and phenol contents in blood within standard ranges. The control group 1 consisted of conditionally healthy women with phenol contents in their blood being higher than 0.016 mg/cm3 . Control group 2 included conditionally healthy women with phenol contents in their blood corresponding to the standard values. Serotonin content in blood serum considered catecholamine regulation marker was estimated with ELISA technique; phenol-specific IgG contents were measured by means of modified competitive ELISA method. PCR technique was used for detection of ACTN3 rs1815739 gene polymorphism associated with catecholamine metabolism. We found that a half of the total study group were exposed to phenol and cresols at concentrations 1.0 MPC average daily and single maximal dose. Incidence of endometriosis among them tended to increase over the examined 5-year periodL this disorder is known to contribute to pregnancy loss. Chemical analysis of blood allowed us to reveal phenol contamination in all the women to varying degrees. Regression analysis allowed to reveal a significant dependence between phenol contents in blood and phenol-specific IgG, as well as significant correlation between blood serotonin contents and cresols concentrations (p 0.05). Kruskal–Wallis test revealed significant intergroup differences by serotonin levels. There were significant differences between the test groups 1 and 2 by serotonin contents (at p 0.0083 with Bonferroni correction). Frequencies of ACTN3 rs1815739 genotypes, using a multiplicative model, allowed us to assign T allele to the factors contributing to risk of reproductive losses induced by biological media contaminated with phenol in excess. Cross-classification analysis revealed a causal relationship between serotonin contents and ACTN3 rs1815739 genotype.

Evaluation of cytochrome b sequence to identify Leishmania species and variants: the case of Panama.

BACKGROUND The genetic heterogeneity of Leishmania parasites is a major factor responsible for the wide variety of Leishmania-associated manifestations. Consequently, understanding the genetic make-up of Leishmania species using suitable molecular markers is an important component of realising local and regional scale disease risk. The cytochrome b (cytb) is frequently used to type New World Leishmania species. However, its potential to discriminate Leishmania species and variants requires further evaluation.OBJECTIVES To explore the capacity of cytb gene to identify New World Leishmania species and variants and to develop an approach able to type local Leishmania species and variants.METHODS We retrieved 360 partial and complete Leishmania cytb gene sequences publicly available in GenBank database to study all single nucleotide polymorphisms (SNPs) across the cytb gene that differentiate New World Leishmania species. This information was used to develop an approach based upon the polymorphisms found in a DNA segment of 948bp. We also compared the typing results found with this technique with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) profiling obtained using HSP70 gene as target. One hundred Panamanian isolates were used to both typed Leishmania species and assess local genetic variability.FINDINGS We found complete agreement between our cytb approach and the PCR-RFLP profiling method based on HSP70 for Leishmania species identification. Ninety-two isolates were identified as L. panamensis, although other Viannia species were found circulating at a lower frequency. Three L. panamensis haplotypes were identified in Panamanian provinces. We also provide an initial report of L. guyanensis haplotypes circulating in Panama.MAIN CONCLUSIONS Cytb gene sequence encompasses key main SNPs that aid to identify Leishmania species. The cytb approach developed with this information was able to identify and assess genetic variability of local Leishmania species found in this study.

Association of angiotensin-converting enzyme gene polymorphism and clinical characteristics in Egyptian patients with major depressive disorder

Objectives Depression is one of the leading causes of disability and suicide worldwide. It has strong genetic etiopathogenesis, especially that related to angiotensin-converting enzyme (ACE) gene polymorphism. Therefore, this research tackled the relation between genetic variants of ACE polymorphism and symptomatology profile of major depression.Patients and methods A total of 42 patients diagnosed with depression matched with 39 controls underwent Structured Clinical Interview for the DSM-IV Axis I diagnosis clinician version, Structured Clinical Interview for the DSM-IV Axis I diagnosis-nonpatient edition, Hamilton Depression Rating Scale, real-time PCR for genotyping, and serum cortisol level assay.Results ACE I/D gene polymorphism was significantly higher in patients with major depression (45.2%) compared with the control group (25.6%). Patients with I/D polymorphism showed longer duration of illness; greater severity; higher number of episodes and rate of hospitalization; higher tendency to be prescribed serotonin/norepinephrine reuptake inhibitors and to receive electroconvulsive therapy; higher scores of core depressive symptoms, such as guilt feeling, inability to work, and suicidal ideation; and higher serum cortisol level than the other genotype groups.Conclusion Our findings support the notion that ACE I/D polymorphism affects major depression severity and symptomatology imprint.

Relationship between BsmI polymorphism and VDR gene methylation profile, gender, metabolic profile, oxidative stress, and inflammation in adolescents.

Background: the biological activity of vitamin D depends on the activity of its receptor or VDR. On the other hand, the activity of this receptor is influenced by its state of methylation. The objective of this study was to verify if the BsmI polymorphism of the VDR gene influences its methylation profile in adolescents. Secondly, it was to verify if the status of some metabolic factors (oxidative stress, inflammation, lipid profile, and glycemia) in the serum, and gender-adjusted vitamin D levels are independent factors with an influence on the VDR methylation profile. Methods and results: the study included 198 adolescents of both sexes, aged 15-19 years, who underwent testing for VDR gene methylation polymorphisms, serum vitamin D levels, and metabolic, oxidative stress, and systemic inflammation markers. It was observed that the BB genotype was less methylated than the other groups (26.1 % versus 30.3 %, and 29.3 % for Bb and bb, respectively), although without statistical differences between them. The odds ratio indicated a protection of 13 % (partially methylated) for vitamin D status, while alpha glycols increased the risk ratio (of being partially methylated) by 3 %. MDA was protective at a 28 % chance of risk that adolescents with higher levels of lipid peroxidation would be hypomethylated. Conclusion: we conclude that the methylation profile of the VDR gene is not influenced by the different BsmI polymorphism genotypes, and that serum vitamin D and serum markers of oxidative stress and inflammation can modulate this profile.

Varicella-Zoster Virus-Genetics, Molecular Evolution and Recombination.

This chapter first details the structure, organization and coding content of the VZV genome to provide a foundation on which the molecular evolution of the virus can be projected. We subsequently describe the evolution of molecular profiling approaches from restriction fragment length polymorphisms to single nucleotide polymorphism profiling to modern day high-throughput sequencing approaches. We describe how the application of these methodologies led to our current model of VZV phylogeograpy including the number and structure of geographic clades and the role of recombination in reshaping these.