scholarly journals PREVALENCE OF MTHFR GENE 677C>T POLYMORPHISM IN THE PATIENTS WITH PSORIASIS VULGARIS

2021 ◽  
Vol 27 (2) ◽  
pp. 3707-3711
Author(s):  
Borislav Dimitrov ◽  
◽  
Dimitar Gospodinov ◽  
Veronika Gincheva ◽  
Regina Komsa-Penkova ◽  
...  

The study aimed to investigate the relationship between carriage of 677C>T polymorphism in the gene of methylene tetrahydrofolate reductase (MTHFR) and plaque psoriasis in patients in Bulgaria. We examined the prevalence of MTHFR C677T genotype in patients with psoriasis, as well as the relationship of the polymorphism with disease severity. Our study covered63 patients with psoriasis and 98psoriasis-free control subjects from northern Bulgaria. MTHFR677C>T genotype was verified by the PCR-RFLP method. There was no significant difference between carriage of TT genotype among the patients and controls: 12.7% versus 10.8 %in controls, OR 1.203, (CI 95% 0465-3.175), p>0.05 respectively. There was a higher PASI score in patients, carriers of TT genotype of MTHFR polymorphism 677C>T than in non-carriers, 28.18versus 24.87 respectively, but not significant. Conclusion: Carriage of TT genotype of MTHFR polymorphism 677C>T was not associated with Psoriasis Vulgaris in the northern Bulgarian population when compared to healthy controls.

Author(s):  
Ayse Feyda Nursal ◽  
Serbulent Yigit ◽  
Husniye Rustemoglu ◽  
Abdullah Cenikli

Objective: Increased level of plasma homocysteine (Hcy) is a potential risk factor for several multi-system diseases. The Methylenetetrahydrofolate reductase (MTHFR) gene C677T variant has been established as an important genetic determinant of hyperhomocysteinemia. There are conflicting reports about the effects of physical activity on plasma Hcy. Therefore, the main aim of this study was to investigate whether the MTHFR C677T variant affects the elite athletic performance. Methods: This study was carried out on 214 individuals (114 elite athletes and 100 sedentary controls). Genotyping was performed using PCR- RFLP method. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: There was a significant difference between the athletes and the control group in genotype distribution and allele frequency of the MTHFR C677T variant. MTHFR C677T CC genotype and C allele were more prevalent in elite athletes than those in the sedentary controls (p =0.007, OR: 2.16, 95%:1.26-3.70; p=0.009, OR: 1.84, 95%:1.18-2.89, respectively). The control group had a higher MTHFR C677T CT genotype than the athletes had (p=0.019, OR: 0.51, 95%:0.30-0.88). There was no deviation from HWE for the MTHFR C677T variant in the groups. Conclusion: Our findings support that there is an association between the MTHFR C677T C allele and athletic performance among the elite Turkish athletes.


2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e17011-e17011
Author(s):  
M. Romkes ◽  
T. M. Feinstein ◽  
S. Zhong ◽  
S. Buch ◽  
M. K. Gibson ◽  
...  

e17011 Background: P inhibits multiple enzymes in folate metabolism. We examined polymorphisms in thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) in patients with SCCHN treated in a phase II clinical trial with P and B (ASCO 2008; A6069). Methods: All pts were treated with P 500 mg/m2 and B 15 mg/kg, given IV every 21 days until progression. Primary endpoint was time to progression (TTP). DNA was isolated from whole blood samples using commercially available kits. Polymorphisms examined were MTHFR (C677T, A1298C and G1793A) and TS (TS2R3R, TSG2RG and TSmut6). The MTHFR SNPs were detected using TaqMan based SNP genotyping kits from Applied Biosystems, run on the ABI Prism 7700 Sequence Detection systems v 1.7 (Foster City, CA). The TS promoter repeat and promoter SNP polymorphisms and the 3’ untranslated region 6 bp deletion polymorphism were determined using published methods to detect PCR product size and RFLP-PCR assays respectively. Results: 22 pts were genotyped from 34 enrolled. There was no significant difference in characteristics between pts with and without genotype data. For the MTHFR polymorphism C677T, there was a trend towards decreased disease control rate (DCR) (CR/PR/SD) (p = 0.058, Jonckheere-Terpstra trend test) and worse TTP (p = 0.04) transitioning from variant CC to CT to TT; comparing TT genotype versus CT and CC combined, pts with TT had inferior DCR (p = 0.03) and TTP (p = 0.0003); homozygotes with TT had a median TTP of 2.6 months (mo) 95% CI (1.4, NA) versus 5.6 mo (4.2, 11.4) for pts with CT or CC variants. For the MTHFR A1298C SNP, there was no significant difference in DCR between variants, median TTP for homozygotes pts with AA was 4.1 mo (2.6, NA) vs. 6.7 mo (5.1, NA) in pts with AC or CC variants (p = 0.084); median overall survival for AA was 10.2 mo (7.6, NA) and for AC or CC 17.6 mo (17, NA) (p = 0.045). The MTHFR G1793A and TS polymorphisms did not impact DCR, TTP or overall survival. There was no association between any polymorphism and the incidence of grade >2 toxicities. Conclusions: Polymorphisms in MTHFR are potentially associated with antitumor efficacy of P-based therapy in recurrent or metastatic SCCHN. These results warrant validation in larger studies with P in SCCHN. No significant financial relationships to disclose.


Author(s):  
Elham Sadat Sonbolestan ◽  
Hossein Sazegar ◽  
Noosha Zia-jahromi ◽  
Farzaneh Mohamadi Farsani

  Objective: This study was aimed to investigate the association between polymorphisms in MTHFR gene and Vitamin B12-dependent homocysteine metabolism.Methods: Hyperhomocysteinemia has been implicated as a risk factor for complications in pregnancy including abortion, preeclampsia, and placental abruption. Several epidemiological studies have investigated the associations of MTHFR C677T polymorphism with hypertension or hypertension in pregnancy. However, the results were controversial. Numbers of 100 samples from healthy pregnant women as control criteria and 100 samples from fertile women have been collected. Due to research on MTHFR polymorphism, special primers have been designed. The research on MTHFR polymorphism has been done by restriction fragment length polymorphism assay.Results: The results demonstrated 9.26% have been registered for heterozygous individuals and the homocysteine level of homozygous individuals was 41.18% (higher than the normal level). The results showed a significant difference in the homocysteine levels of homozygous individuals and the homocysteine levels of healthy individuals (p=0.004). Furthermore, there was no significant difference in the homocysteine levels of heterozygous individuals and the homocysteine levels of healthy individuals (p=0.34). Similarly, a significant difference in the B12 levels in blood of homozygous individuals and the homocysteine levels of healthy individuals have been showed (p=0.00).Conclusion: The mutation of gene MTHFR C677T causes an increase of the homocysteine level, decrease of the level of folic acid and B12 vitamin in heterozygous individuals but a relationship among homocysteine level, the level of folic acid and B12 vitamin not found.


2018 ◽  
Vol 15 (4) ◽  
pp. 851-860
Author(s):  
Raman Jasrotia ◽  
Jyotdeep K. Raina ◽  
Minakshee Sharma ◽  
Rakesh K. Panjaliya ◽  
B.R. Kundal ◽  
...  

Disturbance in vascular functioning pathways has been related to pathophysiology of migraine. The present study investigated the role of MTHFR C677T and ACE I/D gene polymorphisms in migraine susceptibility within the population of Jammu province of J&K state. A sum of 252 subjects including 102 migraine patients and 150 non-migrainous unrelated healthy controls were enrolled for the present study. PCR-RFLP was performed for determining MTHFR gene variations. For detecting insertion/deletion in ACE gene PCR was performed. In case of MTHFR, ‘T’ allele (variant allele) and TT genotype (variant) was found to be present only in migraine patients but not in controls thereby suggesting its positive role in migraine pathophysiology. For ACE I/D polymorphism, higher frequency of DD genotype (32.35 % vs 15.3 %) and D allele (0.51 vs 0.4) were observed in patients than in controls. Logistic regression analysis revealed a significant association of ACE I/D polymorphism with risk of migraine. However, a direct link of MTHFR C677T polymorphism with migraine risk was not found.


2018 ◽  
Vol 2018 ◽  
pp. 1-8
Author(s):  
Ling Hu ◽  
Wanqun Chen ◽  
Ming Cheng ◽  
Ting Zhang ◽  
Shaoyang Lan ◽  
...  

To investigate the relationship of MUC1, MUC5AC, and the syndrome of spleen and stomach, 109 subjects (34 peptic ulcer (PU), 62 chronic gastritis (CG), and 13 healthy volunteers (CON)) were included. All the subjects included were surveyed with questionnaire to classify them into damp-heat syndrome of spleen and stomach (DHSS), spleen-qi deficiency syndrome (SQD), and CON, examined by gastric endoscope, and biopsied. Rapid urease and methylene blue staining (MBS) were performed on every subject to diagnose for Helicobacter pylori (Hp) infection, and both were defined as Hp-positive. Hematoxylin and eosin (HE) staining was performed on every specimen to explore the histomorphology, inflammatory degree, and inflammatory activity of different groups; then Elivision™ plus kit was used to test the expression of MUC1 and MUC5AC. All the results of digital images were reviewed by two experts blindly. The inflammatory degree with Hp infection was higher than those uninfected or CON, but no significant difference was found between DHSS and SQD. And the expressions of MUC5AC with positive Hp was higher than those with negative Hp or CON regardless of the deficiency and solid syndrome of spleen-stomach but not for MUC1. We speculate that the deficiency and solid syndrome of spleen-stomach is a condition like Tai Ji symbol of dynamic equilibrium, showing the higher expression of MUC5AC but no change of MUC1 in the circumstance of Hp infection.


2005 ◽  
Vol 63 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Liana Lisboa Fernandez ◽  
Rosane Machado Scheibe

BACKGROUND: The role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms as risk factors for the occurence of Alzheimer's disease (AD) is still controversial: OBJECTIVE: To verify the association between MTHFR and apolipoprotein E (APOE) polymorphisms and Alzheimer's disease. METHOD: This work was conducted as a case-control study. Cases included thirty patients with probable AD. Controls were constituted by 29 individuals without dementia according to neuropsychological tests paired to age, sex, race and educational level. DNA was isolated from peripheral leukocytes of anticoagulated venous blood. Genotyping of APOE and MTHFR were performed by DNA amplification and digestion. The frequences of APOE and MTHFR genotypes were submitted by chi-square test corrected by Fisher test; the APOE genotypes, to chi-square linear tendency test and the frequences of MTHFR mutant and AD, by stratificated anlysis adjust by Mantel-Haenszel method. RESULTS: There was significant difference about APOE4 and APOE2 in the groups. (p=0.002) The odds ratio increased exponentially with the increased number of E4 allele (chi2 linear tendency test). No significant difference was detected on MTHFR genotypes in both case and control groups. CONCLUSION: The APOE4 is a risk factor and demonstrated a dose-depenent effect while APOE2 allele conferred a protection to AD. The MTHFR mutation had no correlation with AD.


2021 ◽  
Vol 33 (3) ◽  
pp. 200
Author(s):  
Oki Suwarsa ◽  
Fatima Aulia Khairani ◽  
Syawalika Ulya Isneny ◽  
Erda Avriyanti ◽  
Hartati Purbo Dharmadji ◽  
...  

Background: Methotrexate (MTX) and cyclosporine have been used as effective systemic mono-therapy for psoriasis. Several factors are considered to switch monotherapy to combination therapy because monotherapy is no longer effective and has higher side effects. Hence,clinicians have avoided systemic therapy combinations due to its toxicity. However, some studies showed that this combination therapy could be usedeffectively for psoriasis patients. Purpose: This study aimed to analyze the efficacy and adverse effects of systemic MTX and cyclosporine combination therapy in Indonesian psoriasis vulgaris patients. Methods: The retrospective study assessed the effectiveness of 3 monthsmono-therapyand combination therapy of systemic MTX and cyclosporine in psoriasisvulgaris patients from 2016–2017 in Dermatology Clinic, Dr. Hasan Sadikin Hospital, Bandung, West Java, Indonesia. Result: Psoriasis area and severity index (PASI) score 90 were achieved in the group MTX (50%) and cyclosporine group (50%), while none in the combination group.However, eight patients (50%) in group MTX and cyclosporine reached the primary endpoint of PASI 50. One patient in cyclosporine group had adverse effects on kidney profiles. Nonetheless, other patients had no biochemical changes. But, there was no significant difference in the change of PASI between each group (p=0.102). Conclusion: We propose that combination therapy of MTX and cyclosporine is relatively safe and efficacious in treating Indonesian psoriasis vulgaris patients. This combination treatment isas effective as MTX or cyclosporinemono-therapy.


Author(s):  
Gillian Barzaga

ABSTRACT Objective: To determine the relationship of the surgeon handedness and operative site laterality on operative duration and hearing improvement in otologic surgery, and to further explore whether this relationship may be related to surgeon experience. Methods:Design: Retrospective CohortSetting: Tertiary Private Teaching HospitalParticipants: Seventy-three (73) patients aged 18 to 65 years old who underwent primary ear surgery under general anesthesia between January 2016 and December 2019 were retrospectively divided into two groups: 39 contralateral and 34 ipsilateral. The operative durations and hearing improvements were compared using independent t-tests, with consideration of surgeon experience in years further stratifying patients. Results: There was no significant difference in operative duration, t(71) = 1.14, p = .26, between the contralateral (M = 281.95 minutes, SD = 71.82) and ipsilateral (M = 261.15, SD = 79.26) groups. This same pattern was more pronounced among surgeons with 10+ years of experience although there was also no significant difference in operative time, t(33) = 1.31, p = .19 for both ipsilateral and contralateral surgeries There was no statistically significant difference, t(36) = -0.72, p = .47, in overall mean hearing gain among patients in the contralateral (M = +2.22 dB, SD = 10.54) and ipsilateral (M = +5.12 dB, SD = 14.26) groups. Although the difference was also not statistically significant, t(16) = -1.94, p = .07 for contralateral (M = 0.00, SD = 5.43) and ipsilateral (M = +7.95 dB, SD = 11.52) procedures performed by surgeons with experience of 10 years or more, a mean hearing gain of +7 dB in the ipsilateral group compared to 0 dB in the contralateral group was notable. Conclusion: This study did not prove that regardless of surgeon experience, right-handed surgeons operating on the right ear and left-handed surgeons operating on the left ear have better ear surgery outcomes of operative duration and hearing improvement compared to right- handed surgeons operating on the left ear and left-handed surgeons operating on the right ear. Future studies on larger samples with more complete data may yet demonstrate this effect.


2021 ◽  
Vol 15 (11) ◽  
pp. 3101-3102
Author(s):  
Babar Javaid ◽  
Abrar Ahmed ◽  
Gohar Ali Arshad ◽  
M Shoaib Akhtar ◽  
Shazia Taj ◽  
...  

The study was designed to investigate the relationship of psychological well-being with depression and anxiety among heart patients.1 For this purpose, a sample of 200 patients was taken, including 100 men and 100 women, educated uneducated, employed and unemployed volunteers. The sample was taken from Nishtar Hospital, Combined military hospital and other private hospitals in Multan. The age range from 25 to 60 (mean age 43.085).2,3 Objective: To observe the effect of demographic variables (age, education, gender and source of finance) on psychological well-being and depression, anxiety in heart patients. Methods: 1. Low psychological well-being would be positively correlated with depression and anxiety. 2. Older age (above 50) heart patients would have low sense of psychological well-being as compared to younger age (above 35) heart patients. Results: Different statistical procedures were used to determine the relationship of psychological well-being with depression and anxiety among heart patients. Correlation was computed to see the relationship among variables. It was found that there is negative correlation between psychological well-being with depression and anxiety. Since the p-value in less than α (p-value < 0.01), so we reject null hypothesis Ho, and conclude that low psychological well-being is positively correlated with depression and anxiety. Conclusion: This study also finds out important findings on the role of stresses, feeling of worthlessness in depression and anxiety disorder. It is concluded that psychological well-being, depression and anxiety are not significant correlated with each other. Source of income or job and sex of the heart patients have significant effect on psychological well being. However there is no significant difference between men and women regarding the rate of depression and anxiety. Keywords: P-Value, Correlation, Null Hypothesis , Depression


1962 ◽  
Vol 52 (1) ◽  
pp. 123-131
Author(s):  
D. E. Willis ◽  
James T. Wilson

Abstract A series of controlled high explosive shots were conducted by the Atomic Energy Commission in a salt mine near Winnfield, Louisiana, to investigate seismic decoupling theories. Two recording stations were used by the University of Michigan at various distances between 1.1 and 14.7 kilometers for a majority of these shots. Frequency analyses of the magnetic tape recordings were made and the results are presented showing the relationship of the frequency spectra as a function of charge size, distance from the source, and coupled vs decoupled shots. The smaller decoupled shots detonated in the large spherical cavities were observed to have somewhat higher predominate frequencies than the equivalent size coupled shots. A change in cavity size produced no significant difference in the shape of the spectra of the large decoupled shots.


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