Methylenetetrahydrofolate reductase (MTHFR) allele frequencies in Amerindians

Maria Victoria Monsalve, F. M. Salzano, J. L. Rupert, M. H. Hutz, Kim Hill, Ana Hurtado, P. W. Hochachka, D. V. Devine

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Neural tube defects (NTDs) have been associated with abnormalities of folate metabolism. Methylenetetrahydrofolate reductase (MTHFR) is the regulatory enzyme for the conversion of homocysteine to methionine. The C677T mutation in the MTHFR gene affects folate distribution, and homozygosity for the T allele may be associated with an increased risk of NTDs. A second mutation, an A1298C transversion in this same gene, is also associated with an increased risk for NTDs but only in conjunction with the 677T allele. A low incidence of NTDs has been observed in high-altitude populations; however, these studies did not provide information about the allele distribution of genes involved in folate metabolism. This investigation compares allele frequencies of the C677T and A1298C polymorphisms between Quechua people living at 3200-4200 m in the Peruvian Central Andes and an Aché group living at low altitude. Allele frequencies at both loci were not significantly different between the two populations. The absence of the 677T/677T genotypes and of the 677T/1298C arrangement in both groups may indicate a genetic contribution to reduced risk for NTDs; however, factors other than altitude are likely responsible for the low variant allele frequencies in these populations.

Original languageEnglish (US)
Pages (from-to)367-371
Number of pages5
JournalAnnals of Human Genetics
Volume67
Issue number4
DOIs
StatePublished - Jul 2003
Externally publishedYes

Fingerprint

Methylenetetrahydrofolate Reductase (NADPH2)
Neural Tube Defects
Gene Frequency
Folic Acid
Alleles
Population
Genes
Mutation
Homocysteine
Methionine
Genotype
Incidence
Enzymes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Methylenetetrahydrofolate reductase (MTHFR) allele frequencies in Amerindians. / Monsalve, Maria Victoria; Salzano, F. M.; Rupert, J. L.; Hutz, M. H.; Hill, Kim; Hurtado, Ana; Hochachka, P. W.; Devine, D. V.

In: Annals of Human Genetics, Vol. 67, No. 4, 07.2003, p. 367-371.

Research output: Contribution to journalArticle

Monsalve, MV, Salzano, FM, Rupert, JL, Hutz, MH, Hill, K, Hurtado, A, Hochachka, PW & Devine, DV 2003, 'Methylenetetrahydrofolate reductase (MTHFR) allele frequencies in Amerindians', Annals of Human Genetics, vol. 67, no. 4, pp. 367-371. https://doi.org/10.1046/j.1469-1809.2003.00027.x
Monsalve, Maria Victoria ; Salzano, F. M. ; Rupert, J. L. ; Hutz, M. H. ; Hill, Kim ; Hurtado, Ana ; Hochachka, P. W. ; Devine, D. V. / Methylenetetrahydrofolate reductase (MTHFR) allele frequencies in Amerindians. In: Annals of Human Genetics. 2003 ; Vol. 67, No. 4. pp. 367-371.
@article{a8ab984d65c04d6292c1528755671432,
title = "Methylenetetrahydrofolate reductase (MTHFR) allele frequencies in Amerindians",
abstract = "Neural tube defects (NTDs) have been associated with abnormalities of folate metabolism. Methylenetetrahydrofolate reductase (MTHFR) is the regulatory enzyme for the conversion of homocysteine to methionine. The C677T mutation in the MTHFR gene affects folate distribution, and homozygosity for the T allele may be associated with an increased risk of NTDs. A second mutation, an A1298C transversion in this same gene, is also associated with an increased risk for NTDs but only in conjunction with the 677T allele. A low incidence of NTDs has been observed in high-altitude populations; however, these studies did not provide information about the allele distribution of genes involved in folate metabolism. This investigation compares allele frequencies of the C677T and A1298C polymorphisms between Quechua people living at 3200-4200 m in the Peruvian Central Andes and an Ach{\'e} group living at low altitude. Allele frequencies at both loci were not significantly different between the two populations. The absence of the 677T/677T genotypes and of the 677T/1298C arrangement in both groups may indicate a genetic contribution to reduced risk for NTDs; however, factors other than altitude are likely responsible for the low variant allele frequencies in these populations.",
author = "Monsalve, {Maria Victoria} and Salzano, {F. M.} and Rupert, {J. L.} and Hutz, {M. H.} and Kim Hill and Ana Hurtado and Hochachka, {P. W.} and Devine, {D. V.}",
year = "2003",
month = "7",
doi = "10.1046/j.1469-1809.2003.00027.x",
language = "English (US)",
volume = "67",
pages = "367--371",
journal = "Annals of Human Genetics",
issn = "0003-4800",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Methylenetetrahydrofolate reductase (MTHFR) allele frequencies in Amerindians

AU - Monsalve, Maria Victoria

AU - Salzano, F. M.

AU - Rupert, J. L.

AU - Hutz, M. H.

AU - Hill, Kim

AU - Hurtado, Ana

AU - Hochachka, P. W.

AU - Devine, D. V.

PY - 2003/7

Y1 - 2003/7

N2 - Neural tube defects (NTDs) have been associated with abnormalities of folate metabolism. Methylenetetrahydrofolate reductase (MTHFR) is the regulatory enzyme for the conversion of homocysteine to methionine. The C677T mutation in the MTHFR gene affects folate distribution, and homozygosity for the T allele may be associated with an increased risk of NTDs. A second mutation, an A1298C transversion in this same gene, is also associated with an increased risk for NTDs but only in conjunction with the 677T allele. A low incidence of NTDs has been observed in high-altitude populations; however, these studies did not provide information about the allele distribution of genes involved in folate metabolism. This investigation compares allele frequencies of the C677T and A1298C polymorphisms between Quechua people living at 3200-4200 m in the Peruvian Central Andes and an Aché group living at low altitude. Allele frequencies at both loci were not significantly different between the two populations. The absence of the 677T/677T genotypes and of the 677T/1298C arrangement in both groups may indicate a genetic contribution to reduced risk for NTDs; however, factors other than altitude are likely responsible for the low variant allele frequencies in these populations.

AB - Neural tube defects (NTDs) have been associated with abnormalities of folate metabolism. Methylenetetrahydrofolate reductase (MTHFR) is the regulatory enzyme for the conversion of homocysteine to methionine. The C677T mutation in the MTHFR gene affects folate distribution, and homozygosity for the T allele may be associated with an increased risk of NTDs. A second mutation, an A1298C transversion in this same gene, is also associated with an increased risk for NTDs but only in conjunction with the 677T allele. A low incidence of NTDs has been observed in high-altitude populations; however, these studies did not provide information about the allele distribution of genes involved in folate metabolism. This investigation compares allele frequencies of the C677T and A1298C polymorphisms between Quechua people living at 3200-4200 m in the Peruvian Central Andes and an Aché group living at low altitude. Allele frequencies at both loci were not significantly different between the two populations. The absence of the 677T/677T genotypes and of the 677T/1298C arrangement in both groups may indicate a genetic contribution to reduced risk for NTDs; however, factors other than altitude are likely responsible for the low variant allele frequencies in these populations.

UR - http://www.scopus.com/inward/record.url?scp=1542270266&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1542270266&partnerID=8YFLogxK

U2 - 10.1046/j.1469-1809.2003.00027.x

DO - 10.1046/j.1469-1809.2003.00027.x

M3 - Article

C2 - 12914571

AN - SCOPUS:1542270266

VL - 67

SP - 367

EP - 371

JO - Annals of Human Genetics

JF - Annals of Human Genetics

SN - 0003-4800

IS - 4

ER -