Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts

American Journal of Medical Genetics. Part a
Julia VanderMeerLawrence C Brody

Abstract

Many folate-related genes have been investigated for possible causal roles in neural tube defects (NTDs) and oral clefts. However, no previous reports have examined the major gene responsible for folate uptake, the proton-coupled folate transporter (SLC46A1). We tested for association between these birth defects and single nucleotide polymorphisms in the SLC46A1 gene. The NTD study population included 549 complete and incomplete case-family triads, and 999 controls from Ireland. The oral clefts study population comprised a sample from Utah (495 complete and incomplete case-family triads and 551 controls) and 221 Filipino multiplex cleft families. There was suggestive evidence of increased NTD case risk with the rs17719944 minor allele (odds ratio (OR): 1.29; 95% confidence intervals (CI): [1.00-1.67]), and decreased maternal risk of an NTD pregnancy with the rs4795436 minor allele (OR: 0.62; [0.39-0.99]). In the Utah sample, the rs739439 minor allele was associated with decreased case risk for cleft lip with cleft palate (genotype relative risk (GRR): 0.56 [0.32-0.98]). Additionally, the rs2239907 minor allele was associated with decreased case risk for cleft lip with cleft palate in several models, and with cleft palate only i...Continue Reading

References

Dec 24, 1992·The New England Journal of Medicine·A E Czeizel, I Dudás
Dec 6, 1995·JAMA : the Journal of the American Medical Association·L E DalyJ M Scott
Dec 1, 1994·Metabolism: Clinical and Experimental·R P Steegers-TheunissenT K Eskes
May 3, 2000·American Journal of Epidemiology·L D Botto, Q Yang
Feb 24, 2001·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·L C LoffredoP A Mossey
Apr 21, 2001·European Journal of Human Genetics : EJHG·S HorvathN M Laird
Jul 13, 2002·American Journal of Medical Genetics·Susan H BlantonJohn B Mulliken
Jun 18, 2003·Molecular Genetics and Metabolism·Valerie B O'LearyLawrence C Brody
Oct 17, 2003·American Journal of Epidemiology·Gary M ShawRichard H Finnell
Nov 5, 2003·American Journal of Medical Genetics. Part a·Eduardo E CastillaUNKNOWN Latin American Collaborative Study of Congenital Malformations (ECLAMC)
Dec 20, 2003·Nature·UNKNOWN International HapMap Consortium
Jul 20, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Ronald G MungerFlorentino S Solon
Aug 7, 2004·Bioinformatics·J C BarrettM J Daly
Nov 4, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Andrew E CzeizelPéter Vargha
Feb 4, 2005·American Journal of Medical Genetics. Part a·Luca ScapoliPaolo Carinci
Mar 23, 2005·Birth Defects Research. Part A, Clinical and Molecular Teratology·Deborah A SwansonLawrence C Brody
Oct 22, 2005·Birth Defects Research. Part A, Clinical and Molecular Teratology·Mark A CanfieldUNKNOWN National Birth Defects Preventin Network
Nov 30, 2005·Journal of Human Genetics·Patrizia De MarcoValeria Capra
Dec 14, 2005·Molecular Genetics and Metabolism·Valerie B O'learyUNKNOWN Members of the Birth Defects Research Group
Mar 30, 2006·Epidemiology·Gary M ShawSonja A Rasmussen
Jan 30, 2007·BMJ : British Medical Journal·Allen J WilcoxChristian A Drevon
Jan 19, 2008·American Journal of Medical Genetics. Part a·Abee L BoylesRolv Terje Lie
Jul 12, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·J LittleUNKNOWN ITS MAGIC collaboration
Jul 29, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·James L MillsPeadar N Kirke
Sep 18, 2008·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·A R VieiraI M Orioli
Dec 24, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Lijun PeiAiguo Ren
Jan 24, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Barbara FrankeHenk J Blom
Mar 25, 2010·Oral Diseases·G L Wehby, J C Murray
Aug 5, 2010·Birth Defects Research. Part A, Clinical and Molecular Teratology·Michelle R O'ByrneHope Northrup
Feb 4, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Ronald G MungerJohn C Carey

❮ Previous
Next ❯

Citations

Sep 26, 2017·American Journal of Medical Genetics. Part a·Kit Sing AuHope Northrup
Nov 17, 2020·Frontiers in Cell and Developmental Biology·Marcella MartinelliLuca Scapoli
Dec 11, 2020·Differentiation; Research in Biological Diversity·R S SeelanM M Pisano

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.