scholarly journals Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects

2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Philip J. Lupo ◽  
Elizabeth Goldmuntz ◽  
Laura E. Mitchell

Conotruncal and related heart defects (CTRD) are common, complex malformations. Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk. This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD. Case-parent triads (n=727), ascertained from the Children's Hospital of Philadelphia, were genotyped for ten functional variants of nine folate metabolic genes. Analyses of inherited genotypes were consistent with the previously reported association betweenMTHFRA1298C and CTRD (adjustedP=.02), but provided no evidence that CTRD was associated with inherited gene-gene interactions. Analyses of the maternal genotypes provided evidence of aMTHFRC677T/CBS844ins68 interaction and CTRD risk (unadjustedP=.02). This association is consistent with the effects of this genotype combination on folate-homocysteine biochemistry but remains to be confirmed in independent study populations.

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Chen Lyu ◽  
Daniel M. Webber ◽  
Stewart L. MacLeod ◽  
Charlotte A. Hobbs ◽  
Ming Li ◽  
...  

PLoS ONE ◽  
2020 ◽  
Vol 15 (6) ◽  
pp. e0234357 ◽  
Author(s):  
Anshuman Sewda ◽  
A. J. Agopian ◽  
Elizabeth Goldmuntz ◽  
Hakon Hakonarson ◽  
Bernice E. Morrow ◽  
...  

2012 ◽  
Vol 158A (5) ◽  
pp. 1124-1134 ◽  
Author(s):  
Huiping Zhu ◽  
Wei Yang ◽  
Wei Lu ◽  
Analee J. Etheredge ◽  
Edward J. Lammer ◽  
...  

2014 ◽  
Vol 100 (2) ◽  
pp. 107-115 ◽  
Author(s):  
Gary M. Shaw ◽  
Wei Yang ◽  
Suzan L. Carmichael ◽  
Stein Emil Vollset ◽  
Charlotte A. Hobbs ◽  
...  

1997 ◽  
Vol 130 (4) ◽  
pp. 675-676 ◽  
Author(s):  
M.Cristina Digilio ◽  
Bruno Marino ◽  
Aldo Giannotti ◽  
Giuseppe Novelli ◽  
Bruno Dallapiccola

2018 ◽  
Vol 27 (1) ◽  
pp. 51-56
Author(s):  
Ferdousi Hossain Poly ◽  
Syeda Afroza ◽  
Hasanur Rahman ◽  
Md Imran Hassan

A congenital heart defect is a heart problem which is present at birth, caused by improper development of the heart during fetal development. In majority of cases there is no known reason for the heart to develop improperly. Some type of congenital heart defects are related to chromosomal abnormality(5-6%), some are to single gene defect(3-5%) or environmental factors(2%). In 85-90% of cases there is no identifiable cause and are generally considered to be caused by multifactorial inheritance. There are some maternal factors which have some role in cardiovascular malformations. These include high maternal age(above 30 years), maternal obesity, consanguinity among the parents, fever during pregnancy, gestational diabetes mellitus, smoking, alcohol consumption, ingestion of any teratogenic drug including homeopathy and herbal medicine. Objective of the study: To evaluate the risk factors associated with congenital heart disease. Methodology: A case control study was conducted at paediatric department of Sir Salimullah Medical College & Mitford Hospital following approval of the protocol from 1st January 2013 to 30th June 2014. Children fulfilling the inclusion criteria-(0-5 year old children of both sexes admitted in paediatric units of Mitford Hospital with any type of congenital heart disease confirmed by echocardiography) were considered as cases. A similar number of age and sex matched children admitted in Mitford Hospital without any cardiac defect were considered as controls. Data were collected by questionnaire. Results: The results show that majority of the cases are male. Maternal age (27.09 ± 4.63) and BMI (24.10 ± 2.28) both are significantly higher in cases than those of controls. Among the cases 31.8% mothers had consanguineous marriage (p=0.001) and 27.1% mothers had history of fever during pregnancy whereas it was present in 9.3% mothers of controls, the difference is significant statistically (p=0.001). Among the cases 34.6% mothers had history of gestational diabetes mellitus and only 18.9% controls had so and the difference is significant statistically (p=0.014). Conclusion: Relatively old age and more weight during pregnancy, consanguinity between parents, fever during pregnancy, history of gestational diabetes mellitus are the main risk factors of congenital heart defects in children J Dhaka Medical College, Vol. 27, No.1, April, 2018, Page 51-56


2018 ◽  
Vol 32 (21) ◽  
pp. 3606-3611 ◽  
Author(s):  
Jan Pavlicek ◽  
Eva Klaskova ◽  
Martin Prochazka ◽  
Erika Dolezalkova ◽  
David Matura ◽  
...  

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