Abstract
Conotruncal heart defects (CTDs) are a subgroup of congenital heart defects that are considered to be the most common type of birth defect worldwide. Genetic disturbances in folate metabolism may increase the risk of CTDs. We evaluated five single-nucleotide polymorphisms (SNPs) in genes related to folic acid metabolism: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), solute carrier family 19, member 1 (SLC19A1 G80A), methionine synthase (MTR A2576G), and methionine synthase reductase (MTRR A66G), as risk factors for CTDs including various types of malformation, in a total of 193 mothers with CTD-affected offspring and 234 healthy controls in a Chinese population. Logistic regression analyses revealed that subjects carrying the TT genotype of MTHFR C677T, the C allele of MTHFR A1298C, and the AA genotype of SLC19A1 G80A had significant 2.47-fold (TT vs. CC, OR [95% CI] = 2.47 [1.42-4.32], p = 0.009), 2.05-2.20-fold (AC vs. AA, 2.05 [1.28-3.21], p = 0.0023; CC vs AA, 2.20 [1.38-3.58], p = 0.0011), and 1.68-fold (AA vs. GG, 1.68 [1.02-2.70], p = 0.0371) increased risk of CTDs, respectively. Subjects carrying both variant genotypes of MTHFR A1298C and SLC19A1 G80A had a higher (3.23 [1.71-6.02], p = 0.0002) increased...Continue Reading
References
Aug 1, 1994·Nature Genetics·A GalT Rosenberg
Feb 1, 1996·Human Genetics·S DebrusP Bouvagnet
Dec 4, 1995·American Journal of Medical Genetics·G M ShawE J Lammer
Jul 27, 2000·The British Journal of Nutrition·A ChangoJ P Nicolas
Sep 20, 2000·Molecular Genetics and Metabolism·A ChangoJ P Nicolas
Mar 7, 2001·Pediatrics·L D BottoJ D Erickson
May 11, 2005·The American Journal of Clinical Nutrition·Lynn B Bailey, Robert J Berry
Jun 14, 2005·Journal of Medical Genetics·C A HobbsM A Cleves
Oct 7, 2005·International Journal of Cardiology·Alexandre C PereiraJosé Eduardo Krieger
Jun 14, 2006·Proceedings of the National Academy of Sciences of the United States of America·Kazuhiro YamadaRowena G Matthews
Jan 11, 2007·Circulation·Ariane J MarelliLouise Pilote
Jan 17, 2007·Seminars in Cell & Developmental Biology·Mary R Hutson, Margaret L Kirby
Jun 22, 2007·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·A P C BrandalizeL Schüler-Faccini
Aug 31, 2007·Birth Defects Research. Part A, Clinical and Molecular Teratology·Lorenzo D BottoUNKNOWN National Birth Defects Prevention Study
Oct 30, 2007·QJM : Monthly Journal of the Association of Physicians·I M van BeynumL Kapusta
Jun 6, 2009·BMC Medical Genetics·Gary M ShawRichard H Finnell
Dec 25, 2009·Circulation. Cardiovascular Genetics·Elizabeth GoldmuntzLaura E Mitchell
Apr 6, 2012·Cardiology in the Young·Karen E ChristensenRima Rozen
Aug 8, 2012·Clinical Chemistry and Laboratory Medicine : CCLM·Dingxu GongHao Zhang
Oct 12, 2013·Pediatrics International : Official Journal of the Japan Pediatric Society·Umit M SahinerMehmet Alikasifoglu
Mar 7, 2014·PloS One·Bingxi CaiRanran Song
Sep 27, 2014·Herz·Z LiL Jian-Ming
May 20, 2015·Pediatric Cardiology·Teena KoshySolomon Franklin Durairaj Paul
Jul 15, 2015·Genetic Testing and Molecular Biomarkers·Aslı Tetik VardarlıZuhal Eroglu
Dec 6, 2017·Italian Journal of Pediatrics·Di YuXuming Mo