scholarly journals Evaluation of genetic heterogeneity in glutamate carboxypeptidase II (H475Y) and reduced folate carrier (SLC19A1) gene variants increased risk factor for the development of neural tube defects in eastern region of India

2012 ◽  
Vol 4 (1) ◽  
pp. 10-15
Author(s):  
Kumar Saxena
2005 ◽  
Vol 73 (6) ◽  
pp. 430-433 ◽  
Author(s):  
Lijun Pei ◽  
Huiping Zhu ◽  
Aiguo Ren ◽  
Zhiwen Li ◽  
Ling Hao ◽  
...  

Epidemiology ◽  
2011 ◽  
Vol 22 (4) ◽  
pp. 491-496 ◽  
Author(s):  
Rongwei Ye ◽  
Aiguo Ren ◽  
Le Zhang ◽  
Zhiwen Li ◽  
Jianmeng Liu ◽  
...  

The Lancet ◽  
1996 ◽  
Vol 347 (9002) ◽  
pp. 686-687 ◽  
Author(s):  
DrewL. Posey ◽  
MuinJ. Khoury ◽  
Joseph Mulinare ◽  
MyronJ. Adams ◽  
Chin-Yih Ou

Author(s):  
NITHYA K ◽  
ANGELINE T ◽  
PRISCILLA AS ◽  
ASIRVATHAM AJ

Objective: Glutamate carboxypeptidase II (GCPII), reduced folate carrier 1 (RFC1), and methionine synthase (MTR) genes involved in the folate metabolic pathway may play a key role in the pathogenesis of diabetes and its complications. The present study aimed to investigate the prevalence of genetic polymorphisms of GCPII C1561T, RFC1 A80G, and MTR A2756G in individuals with type 2 diabetes mellitus (T2DM) among South Indians. Methods: The study subjects consisted of 100 healthy individuals and 200 patients with T2DM. Genetic polymorphisms (GCPII C1561T, RFCI A80G, and MTR A2756G) in the folate metabolic pathway were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analysis was performed to test the level of significance. Results: With regard to GCPII C1561T and MTR A2756G gene polymorphisms, significant differences were not found when diabetic patients (with and without complications) and controls were compared according to different statistical models (dominant, recessive, and overdominant) p>0.05. A case–control genetic association analysis of RFC1 A80G gene polymorphism has shown that there was 3.7-fold increased risk for patients without complications and 4.9-fold increased risk for diabetic patients with complications. Conclusions: Our findings suggest that the GCPII C1561T and MTR A2756G gene polymorphisms were not significantly associated with diabetes and its complications. Whereas, the RFCI A80G gene polymorphism involved in folate metabolism confers increased risk for diabetes and its complications in South Indian population.


2019 ◽  
Vol 28 (3) ◽  
pp. 476-487 ◽  
Author(s):  
JULIA A.E. RADIC ◽  
JUDY ILLES ◽  
PATRICK J. MCDONALD

Abstract:Open neural tube defects or myelomeningoceles are a common congenital condition caused by failure of closure of the neural tube early in gestation, leading to a number of neurologic sequelae including paralysis, hindbrain herniation, hydrocephalus and neurogenic bowel and bladder dysfunction. Traditionally, the condition was treated by closure of the defect postnatally but a recently completed randomized controlled trial of prenatal versus postnatal closure demonstrated improved neurologic outcomes in the prenatal closure group. Fetal surgery, or more precisely maternal-fetal surgery, raises a number of ethical issues that we address including who the patient is, informed consent, surgical innovation and equipoise as well maternal assumption of risk. As the procedure becomes more widely adopted into practice, we suggest close monitoring of new fetal surgery centers, in order to ensure that the positive results of the trial are maintained without increased risk to both the mother and fetus.


2006 ◽  
pp. 345-361 ◽  
Author(s):  
Ronald T. Riley ◽  
Kenneth A. Voss ◽  
Marcy Speer ◽  
Victoria L. Stevens ◽  
Janee Gelineau-van Waes

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