Abstract
The polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD1) has been reported as a risk factor for neural tube defects (NTDs). In the present study, we aimed to investigate whether the single-nucleotide polymorphisms (SNPs) of MTHFD1 gene are associated with NTDs in a Chinese population and to determine their mechanism of action. MTHFD1 gene was scanned in a total of 270 NTDs cases and 192 healthy controls by using next-generation sequencing (NGS) method. After quality control procedures, 208 selected SNP sites in MTHFD1 gene were enrolled for follow-up statistical association analyses. Functional analyses were also performed for significant SNPs through bioinformatics analysis. Folic acid levels of brain tissue in available NTDs cases and healthy controls (113 and 123, respectively) were measured. Statistical and bioinformatics analyses were performed to investigate the relationship between SNPs in MTHFD1 and susceptibility to NTDs. Statistical analysis showed that 2 independent SNPs, rs1956545 and rs56811449, confer the risk of NTDs (P value=0.0195, OR (odds ratio)=1.41, 95% CI (confidence interval)=1.06-1.88; P value=0.0107, OR=0.56, 95% CI=0.36-0.87). The haplotype GGGG, which consists of 4 SNPs (rs2236225, rs22362...Continue Reading
References
Dec 1, 1990·International Journal of Epidemiology·K Z XiaoH P Jiang
Jun 4, 1998·Clinical Genetics·F A HolH J Blom
Mar 24, 1999·Annals of Human Genetics·K MorrisonY H Edwards
Nov 13, 1999·The New England Journal of Medicine·R J BerryA Correa
Apr 15, 2000·Pediatric Neurosurgery·E C MelvinM C Speer
Sep 26, 2000·Molecular Genetics and Metabolism·M Lucock
Sep 29, 2001·Seminars in Pediatric Neurology·J Gelineau-van Waes, R H Finnell
May 25, 2002·Science·Stacey B GabrielDavid Altshuler
Jun 7, 2003·Epilepsia·Lauren Frey, W Allen Hauser
Aug 26, 2003·The Journal of Biological Chemistry·Priya PrasannanDean R Appling
Aug 7, 2004·Bioinformatics·J C BarrettM J Daly
Apr 1, 2005·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Laura E Mitchell
Nov 30, 2005·Journal of Human Genetics·Patrizia De MarcoValeria Capra
Aug 23, 2006·Nature Reviews. Neuroscience·Henk J BlomRichard H Finnell
Jun 13, 2008·Public Health Nutrition·Ting ZhangXiaoying Zheng
Nov 27, 2008·The Journal of Biological Chemistry·Amanda J MacFarlanePatrick J Stover
Jan 9, 2009·Human Genetics·Nicola CarrollAnne Parle-McDermott
Feb 24, 2009·Epidemiology·Suzan L CarmichaelGary M Shaw
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jul 22, 2010·Annual Review of Nutrition·Anne S Tibbetts, Dean R Appling
Sep 14, 2010·Wiley Interdisciplinary Reviews. Systems Biology and Medicine·M Elizabeth Ross
Mar 2, 2012·The American Journal of Clinical Nutrition·Anna E BeaudinPatrick J Stover
Aug 21, 2012·BMC Pediatrics·Xingguang ZhangZentaro Yamagata
Sep 8, 2012·Nature·UNKNOWN ENCODE Project Consortium
Mar 2, 2013·Science·John B WallingfordRichard H Finnell
Oct 30, 2014·Nucleic Acids Research·Fiona CunninghamPaul Flicek