Effect of IL4-589C>T, FCGR2A-166His>Arg, DEFB1-20G>A, DEFB1-52G>A gene polymorphisms on TNFα, IL-1β, IL-4, and IL-10 contents in the patients with primary hip osteoarthrosis

Our objective was to study the effects of IL4-589C>T, FCGR2A-166His>Arg, DEFB1-20G>A, DEFB1-52G>A gene polymorphisms upon content of TNFα, IL-1β, IL-4, and IL-10 in primary osteoarthrosis of the hip joints. We performed a survey of 100 patients of Russian ethnicity (average age 61.3±8.5 years) with primary coxarthrosis at the stage III-IV who lived in the Trans-Baikal region. The control group (n = 100), were local residents, comparable by age (60±8.3 years), gender, habitation place and nationality. The exclusion criteria were as follows: close relationship; other types of osteoarthritis (post-traumatic, rheumatoid, metabolic, etc.); dysplastic syndromes and phenotypes; acute and chronic inflammatory diseases at the exacerbation stage; diabetes mellitus; osteoporosis; vascular diseases; obesity; malignant neoplasia; alcohol abuse. Along with clinical examination, the following laboratory methods were applied: immunological techniques, i.e., determination of TNFα, IL-1β, IL-4, IL-10; genetic testing using polymerase chain reaction, e.g., a point mutation of the IL4 gene at the 589(C>T) position, FCGR2A at 166(His>Arg) site, DEFB1 at the 20(G>A) and 52(G>A) positions. DNA from the peripheral blood of patients was used for the molecular genetic analysis. Radiographic examination was also carried out. The data were statistically processed using STATISTICA 6.1 software package (StatSoft, USA), Microsoft Office Excel 2019 for Windows 10. The differences were considered statistically significant at p ≤ 0.05. Results. The -589T/T genotype of IL4-589C>T gene polymorphism indirectly contributes to higher content of TNFα and IL-1β for primary osteoarthritis of the hip joints. The patients with -166Arg/Arg genotype have a 1.3-fold increase of certain cytokine concentrations, e.g., TNFα and IL-1β, as compared with -166His/Arg genotype, and, conversely, lower content of IL-4 and IL-10 (1.3- fold) in comparison with -166His/His genotype. The patients with -20A/A genotype showed higher levels of TNFα and IL-1β, respectively, 1.2 and 1.3 times, compared with -20G/G genotype, and 1.3 times versus the -20G/A genotype. Conclusions: 1. The presence of -589T/T genotype of the IL4-589C>T gene polymorphism and the -20A/A genotype of the DEFB1-20G>A gene polymorphism contributes to a high content of TNFα and IL-1β in the blood serum, and the carriage of -166His/His FCGR2A-166His>Arg gene polymorphism is associated with both higher level of TNFα, IL-1β, and a low concentration of IL-4, IL-10. 2. Complex carriers of FCGR2A166HisArg x DEFB152AA x DEFB120AA x IL4589TT genotypes in the patients with primary coxarthrosis increases the contents of TNFα, IL-1β cytokines by 1.5 and 1.7 times, respectively.

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Frequency of Cytokine Gene Polymorphism in Full-Term Newborns with Hypoxic Events

Acta biomedica scientifica ◽

10.29413/abs.2020-5.4.3 ◽

2020 ◽

Vol 5 (4) ◽

pp. 21-27

Author(s):

M. S. Panova ◽

A. S. Panchenko ◽

B. S. Pushkarev

Keyword(s):

Gene Polymorphism ◽

Brain Damage ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Full Term ◽

Control Group ◽

Cytokine Gene ◽

Cytokine Gene Polymorphism ◽

Blood Leukocytes ◽

Intrauterine Hypoxia

Background. An infant brain damage is an extremely urgent problem, this pathology is difficult to prevent, and subsequently it manifests itself with a variety of neurological consequences. Various mechanisms are involved in neurodamage; cytokines, as well as genes that control their activity, are under a great concern today. However, there is little data about their role as predictors of the brain damage among children after hypoxia. Aim of the research. To identify the frequency of cytokine gene polymorphism: interleukin (IL)-1β(C-511T), IL-1β(C3953T), IL-4(C589T), IL-6(C174G), IL-10(C819T), IL-10(G1082A) among newborns with hypoxic events. Materials and methods. The study involved 128 full-term newborn patients with hypoxic events: the first group (n = 48) included newborns who experienced chronic intrauterine hypoxia (CVH), the second group (n = 80) included newborns born in asphyxiation. Control group (52) included babies born without asphyxia and not suffering from CVH. A retrospective analysis of case-records was carried out. The material for molecular genetic analysis was DNA samples isolated from umbilical cord blood leukocytes using DNA Express Blood reagents (Scientific and Production Company LITECH, Moscow). Results. Compared to the control group (p = 0.03) children born in asphyxia had their T allele IL-1β (C-511T) prevailed. The group of newborn who had CVH had their TT genotype (p = 0.04) and the T IL-1β allele (C-511T) (p = 0.01) prevailed compared to the control group. In the same study group while studying the polymorphism of the IL-1β gene, the T allele (p = 0.03) at the point C3953T prevailed, in contrast to the control group. Conclusion. Due to the fact that cytokines are part of a reaction cascade leading to the secondary brain damage, under the action of hypoxia, it was found that among newborns undergoing asphyxia and chronic intrauterine hypoxia the increased frequencies of carriage of IL-1β-511TT and IL-1β-3953TT genotypes, and IL-1β-511T and IL-1β-3953T alleles increase the risk of neurodamage.

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Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ -211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program

Current Pharmaceutical Biotechnology ◽

10.2174/1389201021666201029153518 ◽

2020 ◽

Vol 21 ◽

Author(s):

Elli Anagnostou ◽

Alexia Kafkoutsou ◽

Despina Mavrogianni ◽

Ekaterini Domali ◽

Evangelia Dimitroulia ◽

...

Keyword(s):

Gene Polymorphism ◽

Gene Polymorphisms ◽

Ovarian Response ◽

Greek Population ◽

Control Group ◽

Genotype Distribution ◽

Β Subunit ◽

Molecular Genetic Study ◽

The Impact ◽

First Time

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

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POLYMORPHISM OF GENE IL2-330Т>>G AND EXPRESSION OF INTERLEUKIN-2 IN PATIENTS WITH VENOUS THROMBOEMBOLIC COMPLICATIONS OF POLYTRAUMA

Тромбоз, гемостаз и реология ◽

10.25555/thr.2017.3.0801 ◽

2017 ◽

Author(s):

А. Мироманов ◽

В. Доржеев ◽

Н. Мироманова ◽

Ю. Витковский

Keyword(s):

Molecular Genetic ◽

Interleukin 2 ◽

Clinical Manifestations ◽

Molecular Genetic Analysis ◽

Control Group ◽

Thromboembolic Complications ◽

Inclusion Criteria ◽

Study Results ◽

Venous Thromboembolic ◽

Analysis Point

Введение. Политравма отличается особой тяжестью клинических проявлений, сопровождается значительным нарушением жизненно важных функций организма, трудностью диагностики и лечения, частым развитием разнообразных осложнений, длительным периодом пребывания в стационаре и высокой инвалидизацией. Тромбоэмболические осложнения при политравме встречаются в 40–77% случаев и характеризуются скрытым клиническим течением, трудностью лечения и высокой летальностью. Цель исследования. Изучить влияние полиморфизма гена IL2-330T{>{G на экспрессию интерлейкина-2 (IL-2) у пациентов с венозными тромбоэмболическими осложнениями (ВТЭО) политравмы в Забайкальском крае. Материалы и методы. В исследование включено 114 пациентов (71,9% мужчин и 28,1% женщин) в возрасте от 20 до 40 лет с политравмой. Критерий включения в исследование: политравма с индексом по шкале ISS более 9. Первая группа — 73 пациента с неосложнённым течением политравмы, вторая группа — 41 пациент с ВТЭО политравмы. Контрольную группу составили 100 практически здоровых мужчин и женщин в возрасте от 20 до 40 лет. Материалом для молекулярно-генетического анализа служили образцы ДНК, выделенные из периферической крови. Для исследования выбрана точковая мутация IL-2 в позиции 330 (Т{>{G). Результаты. У пациентов с ВТЭО политравмы регистрировали более частое носительство генотипа -330T/T гена IL2; наличие этого генотипа сопровождалось увеличением продукции IL-2. Заключение. Идентификация генов и раскрытие их влияния на экспрессию кодируемых молекул способствует более глубокому пониманию патогенетических механизмов развития осложнений. Introduction. Polytrauma is characterized by a specifi c severity of clinical manifestations, is accompanied by a signifi cant impairment of vital body functions, the diffi culty of diagnosis and treatment, frequent development of various complications, prolonged period of hospitalization and high disability. Thromboembolic complications of polytrauma occur in 40–77% of cases and characterized by latent clinical course, diffi culties in treatment and high mortality. The aim was to study the eff ect of gene IL2-330T{>{G polymorphism on the expression of interleukin-2 (IL-2) at patients with venous thromboembolic complications (VTE) of polytrauma in Zabaykalskiy Krai. Materials and methods. The study included 114 patients (71,9% men and 28,1% women) with polytrauma aged from 20 to 40 years. Inclusion criteria: polytrauma with index according ISS scale more than 9. First group — 73 patients with uncomplicated polytrauma, second group — 41 patients with VTE of polytrauma. Control group consisted of 100 practically healthy men and women aged from 20 to 40 years. DNA samples isolated from the peripheral blood were the material for molecular genetic analysis. Point mutation of IL-2 at position 330 (T{>{G) was selected for study. Results. Genotype -330T/T of IL2 gene was registered more frequently at patients with VTE of polytrauma; the presence of this genotype was accompanied by increased production of IL-2. Conclusion. Identifi cation of genes and their eff ects on the expression of encoded molecules assists more overall understanding of pathogenetic mechanisms of complications development.

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P0080INTERLEUKIN-17A GENE POLYMORPHISM (RS2275913G>A) IN SLE PATIENTS

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfaa142.p0080 ◽

2020 ◽

Vol 35 (Supplement_3) ◽

Author(s):

Nehal Atef elshabrawy ◽

Hussein Sheashaa ◽

Adel L Abdelsalam ◽

Ahmed Mohammed Abd El Wahab

Keyword(s):

Lupus Nephritis ◽

Gene Polymorphism ◽

Inflammatory Diseases ◽

Statistical Significance ◽

Group Versus ◽

University Hospital ◽

Control Group ◽

Cross Sectional ◽

Dsdna Antibody ◽

Significant Difference

Abstract Background and Aims There are six IL-17-family ligands [IL-17A, IL-17B, IL-17C, IL-17D, IL-17E (IL-25) and IL-17F]. Interleukin-17A (IL-17A) also commonly called IL-17, is produced by the T helper17 (Th17) subset of CD4+ T cells.Interleukin-17 and other Th17 cytokines are linked to the pathogenesis of diverse autoimmune and inflammatory diseases. IL-17A is detected in synovial fluids and synovium from RA patients and induces proinflammatory cytokine production from synoviocytes, also expression of IL-17A was higher in SLE patients and its level positively correlated with the severity of lupus nephritis, because of its contribution to increasing anti-double-stranded DNA (dsDNA) antibody production in SLE. The aim of the present study is to determine the IL-17A gene polymorphism (rs2275913 G>A) frequency in patients with SLE and lupus nephritis, and to determine the association of this polymorphism with the disease activity. Method This cross-sectional, observational, case control study was carried out on 50 females patients, with their age ranged from 15 to 50 years (mean 25.67±9.29 years) with SLE attending Mansoura University Hospital .A control group of 50 healthy females of matched age were also included. The patient group was subdivided into patients with and those without lupus Nephritis (35 and 15 patients, respectively). Lupus nephritis was confirmed by renal biopsy. All patients were subjected to a thorough clinical evaluation and routine laboratory tests. SLEDAI score was calculated for all patients to determine the degree of lupus activity. DNA extraction was performed for all patients as well as controls, One SNPs of IL-17A (rs2275913G>A) was genotyped utilizing PCR- RFLP technique. Results The frequency of rs2275913 A allele was significantly higher in SLE patients than the control group (34.0% vs. 21.0%, respectively; p=0.04, OR =1.9, 95%CI =1.03-3.65). While G allele was significantly higher in control group, (P=0.04)). Moreover, AA genotype was significantly higher in the SLE patients than in the control group (8.0% vs. 0.0%, respectively; p=0.036) and associated with higher SLEDAI, ANA, and anti-dsDNA antibodies titer, (P=0.03, P=.039, P=0.047 respectively).on the other hand there was no significant difference in GG and GA genotypes in the SLE patients versus the control group. The frequency of both genotype GA and AA was higher in the SLE patients than the controls (60% vs. 42%, respectivley; OR=2.07, CI-95%=0.9-5.59); although the difference was not statistically significant (P= 0.07).Although A allele was numerically higher in lupus nephritis group versus non nephritis group(37.0% vs 27.0%, respectively), the Analysis of the frequency of IL-17A rs2275913 alleles and genotypes showed no statistical differences between the two groups. Moreover there was no statistical significance between different genotypes in cases of nephritis regard lupus nephritis class (P=0.9) and no statistical significance between different genotypes (GG-GA-AA) regarding activity indices (AI) or chronicity indices (CI) in lupus nephritis group (P=0.18, P=0.56 respectively). Conclusion We suggest that there was a significant association between IL-17A rs2275913 G>A polymorphism and SLE, as A allele and AA genotype were increased in SLE patients, lupus nephritis especially those with high activity

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Relationship between CYP2E1 Gene Polymorphism and Anti-tuberculosis Drug-induced Liver Injury

Journal of Advances in Medicine Science ◽

10.30564/jams.v1i4.289 ◽

2018 ◽

Vol 1 (4) ◽

pp. 105

Author(s):

Donglin Zhu ◽

Yun Xi ◽

Jieming Dong ◽

Fanhua Huang ◽

Changzhi Xu ◽

...

Keyword(s):

Liver Injury ◽

Gene Polymorphism ◽

Liver Damage ◽

Gene Polymorphisms ◽

Control Group ◽

Case Group ◽

Chinese Han ◽

Drug Induced ◽

Drug Induced Liver Injury ◽

Cyp2e1 Gene

Objective: To investigate the relationship between cytochrome P450 E1 (CYP2E1) gene polymorphisms and susceptibility to anti-tuberculosis drug-induced liver damage (ATDLI) in tuberculosis patients in the Chinese Han nationality. Methods: A retrospective analysis was performed on 360 patients with tuberculosis who had liver damage after tuberculosis treatment (case group) and 360 patients with tuberculosis who did not develop liver injury after treatment (control group). MassARRAY were used to detect CYP2E1 gene polymorphisms. Results: In a total of 8 tagged SNP loci selected, the rs8192773 locus failed to pass the test, and therefore, it is not included in subsequent analysis. At the remaining seven SNP sites, the difference in alleles was not statistically significant between the case group and the control group, suggesting that these sites may not be related to liver damage caused by anti-tuberculosis drugs. Three monomer domains were found in the seven tags SNP loci mentioned above. However, it was found that these haplotypes are not closely related to anti-tuberculosis drug-induced liver damage. Conclusion: The CYP2E1 gene polymorphism in the Chinese Han nationality is not related to the occurrence of anti-tuberculosis drug-induced liver injury.

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Relationship between Superoxide Dismutase Manganese Gene Polymorphism and Eye Tumors

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2021.5968 ◽

2021 ◽

Vol 9 (A) ◽

pp. 229-232

Author(s):

Rodiah Rahmawaty Lubis ◽

Cut Adeya Adella ◽

Lokot Donna Lubis

Keyword(s):

Superoxide Dismutase ◽

Gene Polymorphism ◽

Gene Polymorphisms ◽

Cancer Biology ◽

Orbital Tumor ◽

Control Group ◽

Orbital Tumors ◽

The Impact ◽

The Relationship ◽

Mnsod Gene

ABSTRACT Background: Orbital tumor in Indonesia is one of the eye health problems that can cause blindness. The impact caused by orbital tumors on patients is quite large because it can result in blindness and even death due to its metastatic nature. The role that SOD plays in cancer biology is not well understood, most studies showing a more oxidative state, characterized by increased intracellular ROS, particularly superoxide. Objective: To determine the relationship between Manganese Superoxide Dismutase (SOD2) gene polymorphisms and the incidence of orbital tumors in Medan. Methods: This study is an analytic observational study with a cross-sectional data collection method using controls. Comparisons were made between the control group and the observed group to see the relationship between SOD2 polymorphisms and the risk of orbital tumor incidence in Medan. The ophthalmic examination, anterior and posterior segments, and assessment of CT orbit if deemed necessary for the orbital tumor patients. Histopathological examination was done by the Pathologist. Blood samples was taken for polymorphism examination on extracted DNA using the Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. Results: About 30 patients that met the inclusion criterias. Laterality, the left eye is more likely to suffer from tumors when compared to the right eye. This study found as many as 16 patients, while malignant tumors was 14 patients. There was a relationship between the MnSOD gene polymorphism and the incidence of orbital tumors (p <0.001), there was a relationship between the MnSOD gene polymorphism and the incidence of orbital tumors in the female sex (p <0.001) Conclusion: There was a relationship between MnSOD gene polymorphisms and the incidence of orbital tumors (p <0.001)

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Polymorphism of some genes of bone tissue metabolism (VDR Bsm1 c.IVS7G>A, LCT 13910 T>C, COL1A 12046 G->T) among the representatives of Russian and Buryat nationalities

Osteoporosis and Bone Diseases ◽

10.14341/osteo201713-6 ◽

2017 ◽

Vol 20 (1) ◽

pp. 3-6

Author(s):

Svetlana V. Verkhoturova ◽

Svetlana U. Tsarenok ◽

Vladimir V. Gorbunov ◽

Tatyana A. Aksenova

Keyword(s):

Indigenous Population ◽

Statistical Significance ◽

Receptor Gene ◽

Venous Blood ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Control Group ◽

Collagen Gene ◽

Age Group ◽

Lactase Gene

Aim: to study the frequency of genotypes of the polymorphous markers of bone remodeling (vita-min D receptor gene Bsm1 c.IVS7G> A, the lactase gene LCT 13910 T> C and collagen gene COL1A 12046 G-> T) in healthy people and patients with osteopo-rosis (OP) among the indigenous population of Trans-baikalia of Russian and Buryat nationalities. Methods: 97 women with OP were examined: 49 Russian and 48 Buryat women aged from 50 to 80 years. 123 healthy women of the same age group were included in the control group. DNA sam-ples for molecular genetic analysis were taken from peripheral venous blood. Results: The recessive allele A of the VDR – Bsm1c.IVS7G> A polymorphism was accumulated in women of Buryat nationality, but the statistical significance was not observed (OR = 1.04, CI [0 68, 1.6]). C al-lele of LCT -13910 T> C polymorphism was associated with the development of OP among the representa-tives of Buryat nationality. Conclusion: The gene allele VDR Bsm1 c.IVS7G> Aand the LCT -13910 T>C leads to a higher risk of OP in women of Buryat nationality. The genotypes G/Tand T/T of COL1A12046 G-> T are associated with the development of OP in people of both nationalities.

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Impact of APEX Ile64val Gene Polymorphisms of DNA Repair Ber System on Modulation of the Risk of Colorectal Cancer in the Polish Population

Polish Journal of Surgery ◽

10.1515/pjs-2015-0030 ◽

2015 ◽

Vol 87 (3) ◽

Author(s):

Jacek Kabziński ◽

Ireneusz Majsterek ◽

Michał Mik ◽

Adam Dziki ◽

Łukasz Dziki ◽

...

Keyword(s):

Colorectal Cancer ◽

Dna Repair ◽

Gene Polymorphism ◽

Gene Polymorphisms ◽

Healthy Subjects ◽

Genetic Basis ◽

Direct Relationship ◽

Control Group ◽

Polish Population ◽

Increased Risk

AbstractColorectal cancer (CRC) is one of the deadliest cancers which lie in the incidence of morbidity in second place. Intensive research is to determine and confirm the genetic basis of this disease, which is believed may have a direct relationship with the reduced efficiency of DNA repair systems.The aim of this study was to determine the effect of APEX gene polymorphism Ile64Val on increasing the risk of colorectal cancer in the Polish population.Material and methods. The blood samples collected from 150 patients diagnosed with colon cancer was used. The control group consisted of 150 healthy subjects. Genotyping was performed by TaqMan method.Results. The results indicate that genotype Ile Val is associated with an increased risk of colorectal cancer (OR 2.069; 95% CI 1,205-3,552; p = 0.008).Conclusions. Based on these results, we conclude that the APEX gene polymorphism Ile64Val may be associated with an increased risk of colorectal cancer.

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DRD4 Exon 3 Gene Polymorphisms in Patients Diagnosed with Polysubstance Use Disorder and Co-Occurrence of a Depressive Episode

Genes ◽

10.3390/genes12111834 ◽

2021 ◽

Vol 12 (11) ◽

pp. 1834

Author(s):

Krzysztof Chmielowiec ◽

Jolanta Chmielowiec ◽

Jolanta Masiak ◽

Małgorzata Czekaj ◽

Piotr Krawczyk ◽

...

Keyword(s):

Substance Use ◽

Gene Polymorphism ◽

Healthy Volunteers ◽

Dual Diagnosis ◽

Depressive Episode ◽

Gene Polymorphisms ◽

Control Group ◽

Polysubstance Use ◽

S Allele ◽

Personality Features

Background: There has been a noticeable and systematic growth of the use of psychoactive substances over the past few decades. Dual diagnosis is a clinical term referring to the occurrence of psychoactive substance use disorder comorbid with another psychiatric disorder in the same person. The most common type of dual diagnosis is the co-occurrence of alcohol use disorder and mood disorders in the form of a depressive episode. Co-occurrent substance use disorders are frequently influenced by genetic factors. In selecting our area of research, we focused on dopamine and the DRD4 (Dopamine Receptor D4) gene polymorphism as well as associations with personality features. The aim of the study: The aim of the study was to compare DRD4 exon 3 (DRD4 Ex3) gene polymorphisms in patients diagnosed with polysubstance use disorder and co-occurrence of a depressive episode to DRD4 exon 3 gene polymorphisms in patients diagnosed with polysubstance use disorder and without co-occurrence of a depressive episode and a group of healthy volunteers. The study also aimed at establishing associations between personality features and DRD4 exon 3 gene polymorphisms of male patients diagnosed with polysubstance use disorder with co-occurrence of a depressive episode which may present a specific endophenotype of this group of patients. Methods: The study group comprised 602 male volunteers: patients diagnosed with polysubstance use disorder comorbid with a depressive episode (PUD MDD) (n = 95; mean age = 28.29, standard deviation (SD) = 7.40), patients diagnosed with polysubstance use disorder (PUD) (n = 206; mean age = 28.13, SD = 5.97), and controls (n = 301; mean age = 22.13, SD = 4.57). The patients and control subjects were diagnosed by a psychiatrist using the Mini International Neuropsychiatric Interview (MINI), the NEO Five-Factor Personality Inventory (NEO-FFI), and the State-Trait Anxiety Inventory (STAI) questionnaires. An analysis of the DRD4 exon 3 polymorphism was performed. Results: The patients diagnosed with PUD MDD compared to the control group of healthy volunteers showed significantly higher scores on both the STAI status and features scale and the NEO-FFI Neuroticism and Openness Scale, as well as lower scores on the Extraversion, Agreeableness, and Conscientiousness NEO-FFI scales. In the DRD4 exon 3 gene polymorphism, the s allele was more frequent in the PUD MDD compared to the l allele, which was less frequent. The results of the 2 × 3 factor analysis of variance (ANOVA) in patients and controls and the variant DRD4 exon 3 interaction were found on the Extraversion Scale and the Conscientiousness Scale of the NEO-FFI. Conclusions: The associations show that psychological factors combined with genetic data create a new area of research on addiction, including the problem of dual diagnosis. However, we want to be careful and draw no definite conclusions at this stage of our research.

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Serum Homocysteine, Vitamin B12, Folic Acid Levels and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism in Vitiligo

Disease Markers ◽

10.1155/2012/540597 ◽

2012 ◽

Vol 33 (2) ◽

pp. 85-89 ◽

Cited By ~ 12

Author(s):

Ali Yasar ◽

Kamer Gunduz ◽

Ece Onur ◽

Mehmet Calkan

Keyword(s):

Folic Acid ◽

Gene Polymorphism ◽

Vitamin B12 ◽

Significant Relationship ◽

Gene Polymorphisms ◽

Serum Vitamin ◽

Mthfr Gene ◽

Enzyme Linked Immunosorbent Assay ◽

Control Group ◽

Mthfr Gene Polymorphism

The aim of this study was to determine serum vitamin B12, folic acid and homocysteine (Hcy) levels as well as MTHFR (C677, A1298C) gene polymorphisms in patients with vitiligo, and to compare the results with healthy controls. Forty patients with vitiligo and 40 age and sex matched healthy subjects were studied. Serum vitamin B12 and folate levels were determined by enzyme-linked immunosorbent assay. Plasma Hcy levels and MTHFR polymorphisms were determined by chemiluminescence and real time PCR methods, respectively. Mean serum vitamin B12 and Hcy levels were not significantly different while folic acid levels were significantly lower in the control group. There was no significant relationship between disease activity and vitamin B12, folic acid and homocystein levels. No significant difference in C677T gene polymorphism was detected. Heterozygote A1298C gene polymorphism in the patient group was statistically higher than the control group. There was no significant relationship between MTHFR gene polymorphisms and vitamin B12, folic acid and homocysteine levels. In conclusion, vitamin B12, folate and Hcy levels are not altered in vitiligo and MTHFR gene mutations (C677T and A1298C) do not seem to create susceptibility for vitiligo.

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