Folate-related genes and omphalocele

James L. Mills, Charlotte M. Druschel, Faith Pangilinan, Kenneth Pass, Christopher Cox, Rebecca R. Seltzer, Mary R. Conley, Lawrence C. Brody

Research output: Contribution to journalArticle

Abstract

Women who take folic acid in the periconceptional period greatly reduce their chances of having a child with a neural tube defect (NTD). Using multivitamins may also reduce the risk of having a child with an omphalocele. In this study, we tested single nucleotide polymorphisms in folate-related enzyme genes for association with omphalocele. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methylenete-trahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls. Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C → T, a known risk factor for NTDs (odds ratio 3.50, 95% confidence interval 1.07-11.47, P = 0.035). The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. In this small study, the thermolabile variant of MTHFR, 677C → T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.

Original languageEnglish (US)
Pages (from-to)8-11
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume136 A
Issue number1
DOIs
StatePublished - Jul 1 2005
Externally publishedYes

Fingerprint

Umbilical Hernia
Folic Acid
Methylenetetrahydrofolate Reductase (NADPH2)
Genes
Reduced Folate Carrier Protein
Transcobalamins
Neural Tube Defects
Enzymes
Single Nucleotide Polymorphism
Oxidoreductases
Alleles
Odds Ratio
Confidence Intervals

Keywords

  • Birth defects
  • Folate
  • Folic acid
  • MTHFR, MTHFD1
  • Multivitamins
  • Omphalocele
  • Reduced folate carrier
  • Transcobalamin II
  • Ventral wall defects
  • Vitamins

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Mills, J. L., Druschel, C. M., Pangilinan, F., Pass, K., Cox, C., Seltzer, R. R., ... Brody, L. C. (2005). Folate-related genes and omphalocele. American Journal of Medical Genetics, 136 A(1), 8-11. https://doi.org/10.1002/ajmg.a.30772

Folate-related genes and omphalocele. / Mills, James L.; Druschel, Charlotte M.; Pangilinan, Faith; Pass, Kenneth; Cox, Christopher; Seltzer, Rebecca R.; Conley, Mary R.; Brody, Lawrence C.

In: American Journal of Medical Genetics, Vol. 136 A, No. 1, 01.07.2005, p. 8-11.

Research output: Contribution to journalArticle

Mills, JL, Druschel, CM, Pangilinan, F, Pass, K, Cox, C, Seltzer, RR, Conley, MR & Brody, LC 2005, 'Folate-related genes and omphalocele', American Journal of Medical Genetics, vol. 136 A, no. 1, pp. 8-11. https://doi.org/10.1002/ajmg.a.30772
Mills JL, Druschel CM, Pangilinan F, Pass K, Cox C, Seltzer RR et al. Folate-related genes and omphalocele. American Journal of Medical Genetics. 2005 Jul 1;136 A(1):8-11. https://doi.org/10.1002/ajmg.a.30772
Mills, James L. ; Druschel, Charlotte M. ; Pangilinan, Faith ; Pass, Kenneth ; Cox, Christopher ; Seltzer, Rebecca R. ; Conley, Mary R. ; Brody, Lawrence C. / Folate-related genes and omphalocele. In: American Journal of Medical Genetics. 2005 ; Vol. 136 A, No. 1. pp. 8-11.
@article{32b7212985c04a428771c2dc6bd7e17b,
title = "Folate-related genes and omphalocele",
abstract = "Women who take folic acid in the periconceptional period greatly reduce their chances of having a child with a neural tube defect (NTD). Using multivitamins may also reduce the risk of having a child with an omphalocele. In this study, we tested single nucleotide polymorphisms in folate-related enzyme genes for association with omphalocele. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methylenete-trahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls. Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C → T, a known risk factor for NTDs (odds ratio 3.50, 95{\%} confidence interval 1.07-11.47, P = 0.035). The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. In this small study, the thermolabile variant of MTHFR, 677C → T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.",
keywords = "Birth defects, Folate, Folic acid, MTHFR, MTHFD1, Multivitamins, Omphalocele, Reduced folate carrier, Transcobalamin II, Ventral wall defects, Vitamins",
author = "Mills, {James L.} and Druschel, {Charlotte M.} and Faith Pangilinan and Kenneth Pass and Christopher Cox and Seltzer, {Rebecca R.} and Conley, {Mary R.} and Brody, {Lawrence C.}",
year = "2005",
month = "7",
day = "1",
doi = "10.1002/ajmg.a.30772",
language = "English (US)",
volume = "136 A",
pages = "8--11",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Folate-related genes and omphalocele

AU - Mills, James L.

AU - Druschel, Charlotte M.

AU - Pangilinan, Faith

AU - Pass, Kenneth

AU - Cox, Christopher

AU - Seltzer, Rebecca R.

AU - Conley, Mary R.

AU - Brody, Lawrence C.

PY - 2005/7/1

Y1 - 2005/7/1

N2 - Women who take folic acid in the periconceptional period greatly reduce their chances of having a child with a neural tube defect (NTD). Using multivitamins may also reduce the risk of having a child with an omphalocele. In this study, we tested single nucleotide polymorphisms in folate-related enzyme genes for association with omphalocele. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methylenete-trahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls. Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C → T, a known risk factor for NTDs (odds ratio 3.50, 95% confidence interval 1.07-11.47, P = 0.035). The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. In this small study, the thermolabile variant of MTHFR, 677C → T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.

AB - Women who take folic acid in the periconceptional period greatly reduce their chances of having a child with a neural tube defect (NTD). Using multivitamins may also reduce the risk of having a child with an omphalocele. In this study, we tested single nucleotide polymorphisms in folate-related enzyme genes for association with omphalocele. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methylenete-trahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls. Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C → T, a known risk factor for NTDs (odds ratio 3.50, 95% confidence interval 1.07-11.47, P = 0.035). The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. In this small study, the thermolabile variant of MTHFR, 677C → T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.

KW - Birth defects

KW - Folate

KW - Folic acid

KW - MTHFR, MTHFD1

KW - Multivitamins

KW - Omphalocele

KW - Reduced folate carrier

KW - Transcobalamin II

KW - Ventral wall defects

KW - Vitamins

UR - http://www.scopus.com/inward/record.url?scp=21644480407&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=21644480407&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.30772

DO - 10.1002/ajmg.a.30772

M3 - Article

VL - 136 A

SP - 8

EP - 11

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -