Impact of 5,10-methylenetetrahydrofolate reductase gene polymorphism on neural tube defects

2010 ◽  
Vol 6 (4) ◽  
pp. 364-367 ◽  
Author(s):  
Poomagame Narasimhamurthy Harisha ◽  
B. Indira Devi ◽  
Rita Christopher ◽  
Tumkur Puttasiddhappa Kruthika-Vinod
Keyword(s):  
Risk Factor ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase ◽  
Test Group ◽  
Control Group ◽  
South Indian Population ◽  
Chi Square ◽  
South Indian ◽  
Significant Difference

Object Neural tube defects (NTDs) are among the most common congenital malformations worldwide. Their etiology and exact mechanisms of development are incompletely understood. Many enzymes involved in folate metabolism and the genes encoding these enzymes have been studied as candidates in their etiology. A mutation in the methylenetetrahydrofolate reductase (MTHFR) gene—a C→T transition at nucleotide 677—is one among them. The mutation results in substitution of alanine by valine at a functionally important site in the enzyme. It has been shown to be a risk factor for development of NTDs in certain populations. The present study was conducted to evaluate the role of MTHFR 677 C→T mutation as a risk factor for NTD in the South Indian population and to determine the relative importance of the genotypes in the affected child and its mother. Methods Blood samples were collected from the test and the control groups. The test group consisted of children with NTDs and their mothers, while the control group consisted of apparently healthy controls. MTHFR C677T polymorphism in the 3 groups was determined by polymerase chain reaction and restriction fragment length polymorphism studies. Comparison of polymorphism in the 3 groups was using the chi-square test. Results There was a significant difference in the prevalence of MTHFR 677 C→T mutation among the 3 groups (p = 0.002). The risk conferred by the TT genotype in the child was statistically significant (OR 12.625, 95% CI 1.430–111.465). In the mothers, however, although there was an increased prevalence of the mutation compared with the control individuals, the difference was not statistically significant (p = 0.152). Conclusions The MTHFR 677TT genotype is considered to be a definite risk factor for development of NTDs. It is the TT genotype status of the developing embryo, rather than the TT genotype status of its mother, that is the critical genetic determinant of MTHFR-related NTD risk.

Resorbable Collagen Barrier Impeding the Extrusion of Obturating Material in Primary Molars Undergoing Resorption – A Randomized Clinical Trial

2021 ◽  
Vol 45 (5) ◽  
pp. 312-316
Author(s):  
Mishra Neha Sanjeev ◽  
Harsimran Kaur ◽  
Sandeep Singh Mayall ◽  
Rishika ◽  
Ramakrishna Yeluri
Keyword(s):  
Test Group ◽  
Primary Molars ◽  
Control Group ◽  
Chi Square ◽  
Significance Level ◽  
Significant Difference ◽  
Chi Square Test ◽  
Group A ◽  
Group B ◽  
And Control

Objective: To evaluate the effectiveness of placing a resorbable collagen barrier in impeding the extrusion of obturation material in primary molars undergoing resorption. Study design: All the 94 canals in 47 mandibular molars were allocated to 2 groups- Group ‘A’- 47 canals with collagen barrier (Test group) and Group ‘B’- 47 canals without collagen barrier (Control group) based on randomization protocol. Pulpectomy was performed and obturation of both test and control canals were radiographically assessed. Pearson’s chi – square test was applied to analyze the results. The significance level was predetermined at p < 0.05. Results: Among the test group, 93.6% of the canals showed no extrusion while, 6.4% showed visible extrusion of the material outside the apex. In the control group, 83% showed no extrusion whereas 17% of the canals showed visible extrusion outside the apex. But no significant difference was noted (p>0.05). Conclusion: The placement of resorbable collagen barrier in the apical third of the canal prevented the extrusion of obturating material beyond the apex in resorbing primary molars.

scholarly journals Is MTHFR polymorphism a risk factor for Alzheimer's disease like APOE?

2005 ◽  
Vol 63 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Liana Lisboa Fernandez ◽  
Rosane Machado Scheibe
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Factor ◽  
Methylenetetrahydrofolate Reductase ◽  
Venous Blood ◽  
Dna Amplification ◽  
Mthfr Gene ◽  
Chi Square ◽  
Mthfr Polymorphism ◽  
Significant Difference

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.

scholarly journals A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

1998 ◽  
Vol 62 (5) ◽  
pp. 1044-1051 ◽  
Author(s):  
Nathalie M.J. van der Put ◽  
Fons Gabreëls ◽  
Erik M.B. Stevens ◽  
Jan A.M. Smeitink ◽  
Frans J.M. Trijbels ◽  
...  
Keyword(s):  
Risk Factor ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase ◽  
Common Mutation ◽  
Additional Risk Factor ◽  
Additional Risk ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

scholarly journals Type of psychosocial stressor as risk factor of depressive symptom in metabolic syndrome

2016 ◽  
Vol 15 (2) ◽  
pp. 262-268
Author(s):  
Ana Fauziyati ◽  
Agus Siswanto ◽  
Luthfan Budi Purnomo ◽  
Hemi Sinorita
Keyword(s):  
Metabolic Syndrome ◽  
Risk Factor ◽  
Depressive Symptom ◽  
Social Relationship ◽  
Psychosocial Stressors ◽  
Control Group ◽  
Case Group ◽  
Psychosocial Stressor ◽  
Chi Square ◽  
Significant Difference

Metabolic syndrome and depression are two major diseases over the world, which are increasing in prevalence over time. Depression is a major mental health burden over the world. In long time, depression can lead to metabolic syndrome, while metabolic syndrome is a risk factor for developing depression. Metabolic syndrome is a major risk factor for developing cardiovascular disease. Chronic stress induced by psychosocial stressor leads to the development of both metabolic syndrome and depression. Further research is important to identify which type of psychosocial stressor is the risk factor for depressive symptom in patients with metabolic syndrome. The objective of this study is to identify the type of psychosocial stressor which could be the risk factor for depressive symptom. The study design was case control. The case group consisted of metabolic syndrome patients with depressive symptom, while the control group consisted of metabolic syndrome patients without depressive symptom. Metabolic syndrome was diagnosed based on International Diabetes Federation (IDF) criteria. Depressive symptom was measured by Beck Depression Inventory (BDI). Psychosocial stressors were measured by Stressful Life Events (SLE) questionnaire. Dependent variable was depressive symptom, while independent variables were type of psychosocial stressors (finance, work, social relationship, health and housing). Analysis methods that used in this study were independent t test, Pearson/Spearman correlation analysis, chi square and logistic regression. There were 54 patients in this study, consisted of 24 in case group and 30 in control group. There was no significant difference in most basic characteristics between two groups. There was significant difference of SLE score between two groups. Chi square analysis showed that housing, finance, health, social relationship, and work stressors were risk factors for developing depressive symptom in metabolic syndrome (OR 24.5 (p 0.001); 9.7 (p 0.039); 8.4 (p 0.016); 5.4 (p 0.004); 3.9 (p 0.001), respectively). Demographic factor which also influenced depressive symptom was salary less than 1 million per month (OR 45, p 0.004). According to logistic regression analysis, psychosocial stressors which most influenced the depressive symptom were finance and housing. In conclusion, this study showed that housing, finance, health, social relationship and work stressors were risk factors for developing depressive symptom in metabolic syndrome.Bangladesh Journal of Medical Science Vol.15(2) 2016 p.262-268

Polymorphisms of 5,10-Methylenetetrahydrofolate Reductase and Cystathionine β-Synthase Genes as a Risk Factor for Neural Tube Defects in Sétif, Algeria

2009 ◽  
Vol 45 (6) ◽  
pp. 472-477 ◽  
Author(s):  
Bakhouche Houcher ◽  
Romyla Bourouba ◽  
Farida Djabi ◽  
Erkan Yilmaz ◽  
Yonca Eğin ◽  
...  
Keyword(s):  
Risk Factor ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase

scholarly journals Loci C677T and A1298C of the methylenetetrahydrofolate reductase gene and the risk of neural tube defects in the Kyrgyz population

2019 ◽  
pp. 3-8
Author(s):  
Н.М. Алдашева ◽  
Э.М. Мамбетсадыкова ◽  
Э.Т. Талайбекова ◽  
С.Дж. Боконбаева ◽  
Х.М. Сушанло ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase ◽  
Strong Association ◽  
Mthfr Gene ◽  
Control Group ◽  
Increased Risk ◽  
Pcr Rflp ◽  
1298C Allele ◽  
Kyrgyz Population

Цель. Изучить ассоциацию полиморфных локусов С677Т и А1298С гена MTHFR с развитием дефектов нервной трубки (ДНТ) у детей киргизской национальности. Методы. В исследование включены 76 детей и их матери. В основную группу вошли 30 детей с пороками невральной трубки, чаще всего в виде изолированной спиномозговой грыжи или в сочетании с другими врожденными пороками развития, а также их матери. 46 детей без ДНТ и их матери составили контрольную группу. Идентификация генотипов полиморфных локусов С677Т и А1298С гена MTHFR проводилась методом анализа полиморфизма длин рестрикционных фрагментов (ПДРФ). Результаты. При анализе распределения генотипов и аллелей полиморфизма А1298С гена MTHFR выявлено, что среди детей с ДНТ статистически значимо чаще встречались гетерозиготный генотип А1298С (χ²=9,67; р=0,0079) и аллель 1298С (χ²=4,17; р=0,04). При наличии генотипа А1298С риск развития ДНТ повышается в 4,71 раза (OR=4,71; p=0,0079), а при наличии аллеля 1298С - в 2,2 раза (OR=2,20; p=0,04). Полиморфный локус С677Т гена MTHFR самостоятельно не был ассоциирован с ДНТ, однако гетерозиготность по двум полиморфным аллелям ассоциирована с ДНТ (χ²=5,60; p=0,018) и существенно повышает относительный риск развития ДНТ (OR=9,75; p=0,018). Заключение. У детей киргизской национальности полиморфный локус А1298С гена MTHFR ассоциирован с развитием дефекта нервной трубки. Комбинированная гетерозиготность (С677Т/А1298С) по обоим полиморфизмам является дополнительным отягощающим фактором. Aim. The aim of the study was to investigated whether polymorphisms С677Т and А1298С of the MTHFR gene are associated with neural tube defects (NTDs) in the Kyrgyz population. Methods. The study included 76 children and their mothers. The study group included 30 children and their mothers, where the child had a neural tube defect, most commonly in the form of an isolated spina bifida or in combination with congenital anomalies. Control group - 46 children without congenital malformations. С677Т and А1298С polymorphisms analysis in the MTHFR gene were performed by PCR-RFLP method. Results. The frequency of the heterozygous A1298C genotype (χ²=9,67; p=0,0079) and 1298C allele (χ²=4,10; p=0,041) of the MTHFR gene was higher in cases than in controls. Child with heterozygous A1298C genotype had a 4,71- fold (OR=4,71; p=0,0079) higher risk of NTDs when compared with those who had the AA genotype. Child carriers of the 1298C allele had a 2,2-fold higher risk of NTDs (OR=2,20; p=0,041). С677Т/А1298С genotypes are more frequent among cases than controls (χ²=5,00; p=0,025). We showed that the combinations of С677Т/А1298С is strong association with NTDs (χ²=5,60; p=0,018). Subjects carriers of the combinations of С677Т/А1298С genotypes had a significant 9,7-fold higher risk of NTDs (OR=9,75; p=0,018). Conclusion. There is significant association between С677Т and А1298С polymorphism in MTHFR gene and neural tube defects in the Kyrgyz population. An increased risk of neural tube defects associated with heterozygous A1298C genotype, 1298C allele and combinations of С677Т/А1298С in MTHFR gene.

scholarly journals Association between Anatomical Variations and Maxillary Canine Impaction: A Retrospective Study in Orthodontics

2020 ◽  
Vol 10 (16) ◽  
pp. 5638
Author(s):  
Marco Pasini ◽  
Maria Rita Giuca ◽  
Sara Ligori ◽  
Stefano Mummolo ◽  
Fabiana Fiasca ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Sella Turcica ◽  
Logistic Models ◽  
Test Group ◽  
Anatomical Variations ◽  
Control Group ◽  
Posterior Arch ◽  
Maxillary Canine ◽  
Chi Square ◽  
Significant Difference

This study aims to evaluate whether or not there is a higher prevalence of skeletal abnormalities in subjects with maxillary canine impaction (MCI). This retrospective study was performed on 67 subjects with maxillary canine impaction (test group) and on 67 patients without dental displacement (control group). Sella turcica bridging (SB), ponticulus posticus (PP), atlas posterior arch deficiency (APAD) and the morphology of sella turcica and pterygopalatine fissure were evaluated on lateral cephalometric radiographs. Statistical analysis was performed using chi-square, Mann–Whitney test and multivariate logistic models; the level of significance was p < 0.05. Results showed that in the test and control groups 87% and 62.7% of patients had SB, respectively. PP was observed in 60% of patients in the test group and in 16.4% of patients in the control group. APAD was observed in 9% of test group and in 4.5% of the control group. Skeletal anomalies were significantly increased (p < 0.05) in subjects with MCI. A significant difference between the groups was observed in regards to the shape of the pterygopalatine fissure, found to be less wide and longer in the test group. SB, PP and APAD were higher in subjects with MCI; furthermore, an elongated pterygopalatine fissure was significantly associated with MCI.

scholarly journals A STUDY OF THE POTENTIATING EFFECT OF TOPICAL PROPARACAINE 0.5% ON TROPICAMIDE 0.8% AND PHENYLEPHRENE 5% INDUCED MYDRIASIS IN A SOUTHINDIAN POPULATION

2021 ◽  
pp. 60-61
Author(s):  
VIKRAM CHELLAKUMAR ◽  
DHARSHINI RAVINDRAN
Keyword(s):  
Cataract Surgery ◽  
Indian Population ◽  
Control Group ◽  
Study Group ◽  
Eye Drops ◽  
South Indian Population ◽  
Topical Anesthetic ◽  
Pupillary Dilatation ◽  
South Indian ◽  
Significant Difference

Objectives: Pupillary dilatation is an integral part of comprehensive ophthalmic examination. It is also essential for cataract surgery and outpatient laser procedures. Rapid and sustained dilatation is often required. It has been proposed that prior instillation of proparacaine 0.5% can potentiate the effect of the routinely used tropicamide 0.8% phenylephrine 5% combination mydriatic agent. However, certain studies have shown that it is not effective in dark colored iris as compared to light colored iris; hence, this study was done on a predominantly South Indian population with dark iris. Methods: Hundred eyes of 50 patients requiring pupillary dilatation as part of routine ophthalmic evaluation were included in the study. The patients were divided into two groups. The study group was given 0.5% proparacaine before instillation of mydriatic agent and the control group was given only tropicamide 0.8% and phenylephrine 5% eye drops. Pupillary dilatation was measured after 15 min and 30 min in both eyes. The end point was taken as 6 mm pupillary dilatation. Results: There was a statistically significant difference in the rate of pupillary dilatation between the control and the study group at 15 min and 30 min after instillation of eye drops. Conclusion: The study concluded that prior instillation produced faster dilatation even in patients with dark colored iris; hence, we suggest the use of topical anesthetic proparacaine 0.5% in situations where rapid mydriasis is required.

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