Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

E. Rampersaud; E. C. Melvin; D. Siegel; L. Mehltretter; M. E. Dickerson; T. M. George; D. Enterline; J. S. Nye; Marcy C. Speer; Joanna Aben; Arthur Aylsworth; Cynthia Powell; Timothy Brei; Connie Buran; Joann Bodurtha; Kathleen Sawin; Mark S. Dias; Bermans Iskandar; Bonnie Ohm; Nicole Lasarsky; David McLone; Joy Ito; W. Jerry Oakes; Marion Walker; Paula Peterson

doi:10.1034/j.1399-0004.2003.00043.x

Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

E. Rampersaud, E. C. Melvin, D. Siegel, L. Mehltretter, M. E. Dickerson, T. M. George, D. Enterline, J. S. Nye, Marcy C. Speer, Joanna Aben, Arthur Aylsworth, Cynthia Powell, Timothy Brei, Connie Buran, Joann Bodurtha, Kathleen Sawin, Mark S. Dias, Bermans Iskandar, Bonnie Ohm, Nicole LasarskyDavid McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

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29 Scopus citations

Abstract

Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We examined the risk associated with having the thermolabile variant (TT) of MTHFR in a study of 175 American Caucasians with NTDs and their families. We found a significant association in patients compared with 195 unrelated controls [odds ratio (OR) = 2.13, 95 % confidence interval (95% CI) = 1.11-4.09)], but not in mothers (OR = 1.29, 95% CI = 0.622-2.67) or in fathers (OR = 1.45, 95% CI = 0.681-3.09). We found no evidence for unequal transmission from parents to an affected child (p > 0.10). We failed to find a previously reported association for a combined haplotype for MTHFR and cystathionine β-synthase, except in subjects with NTDs compared with 559 pooled controls (OR = 2.87, 95% CI = 1.03-8.03). We found no evidence for an association for a novel CA-repeat polymorphism identified in a gene closely linked to MTHFR (p > 0.10). Our studies continue to suggest that additional candidate genes other than MTHFR may be responsible for an increased risk to NTD in some American Caucasian families.

Original language	English (US)
Pages (from-to)	210-214
Number of pages	5
Journal	Clinical Genetics
Volume	63
Issue number	3
DOIs	https://doi.org/10.1034/j.1399-0004.2003.00043.x
State	Published - Mar 1 2003

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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Rampersaud, E., Melvin, E. C., Siegel, D., Mehltretter, L., Dickerson, M. E., George, T. M., Enterline, D., Nye, J. S., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Brei, T., Buran, C., Bodurtha, J., Sawin, K., Dias, M. S., Iskandar, B., Ohm, B., ... Peterson, P. (2003). Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. Clinical Genetics, 63(3), 210-214. https://doi.org/10.1034/j.1399-0004.2003.00043.x

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title = "Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects",

abstract = "Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We examined the risk associated with having the thermolabile variant (TT) of MTHFR in a study of 175 American Caucasians with NTDs and their families. We found a significant association in patients compared with 195 unrelated controls [odds ratio (OR) = 2.13, 95 % confidence interval (95% CI) = 1.11-4.09)], but not in mothers (OR = 1.29, 95% CI = 0.622-2.67) or in fathers (OR = 1.45, 95% CI = 0.681-3.09). We found no evidence for unequal transmission from parents to an affected child (p > 0.10). We failed to find a previously reported association for a combined haplotype for MTHFR and cystathionine β-synthase, except in subjects with NTDs compared with 559 pooled controls (OR = 2.87, 95% CI = 1.03-8.03). We found no evidence for an association for a novel CA-repeat polymorphism identified in a gene closely linked to MTHFR (p > 0.10). Our studies continue to suggest that additional candidate genes other than MTHFR may be responsible for an increased risk to NTD in some American Caucasian families.",

author = "E. Rampersaud and Melvin, {E. C.} and D. Siegel and L. Mehltretter and Dickerson, {M. E.} and George, {T. M.} and D. Enterline and Nye, {J. S.} and Speer, {Marcy C.} and Joanna Aben and Arthur Aylsworth and Cynthia Powell and Timothy Brei and Connie Buran and Joann Bodurtha and Kathleen Sawin and Dias, {Mark S.} and Bermans Iskandar and Bonnie Ohm and Nicole Lasarsky and David McLone and Joy Ito and Oakes, {W. Jerry} and Marion Walker and Paula Peterson",

year = "2003",

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doi = "10.1034/j.1399-0004.2003.00043.x",

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Rampersaud, E, Melvin, EC, Siegel, D, Mehltretter, L, Dickerson, ME, George, TM, Enterline, D, Nye, JS, Speer, MC, Aben, J, Aylsworth, A, Powell, C, Brei, T, Buran, C, Bodurtha, J, Sawin, K, Dias, MS, Iskandar, B, Ohm, B, Lasarsky, N, McLone, D, Ito, J, Oakes, WJ, Walker, M & Peterson, P 2003, 'Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects', Clinical Genetics, vol. 63, no. 3, pp. 210-214. https://doi.org/10.1034/j.1399-0004.2003.00043.x

TY - JOUR

T1 - Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

AU - Rampersaud, E.

AU - Melvin, E. C.

AU - Siegel, D.

AU - Mehltretter, L.

AU - Dickerson, M. E.

AU - George, T. M.

AU - Enterline, D.

AU - Nye, J. S.

AU - Speer, Marcy C.

AU - Aben, Joanna

AU - Aylsworth, Arthur

AU - Powell, Cynthia

AU - Brei, Timothy

AU - Buran, Connie

AU - Bodurtha, Joann

AU - Sawin, Kathleen

AU - Dias, Mark S.

AU - Iskandar, Bermans

AU - Ohm, Bonnie

AU - Lasarsky, Nicole

AU - McLone, David

AU - Ito, Joy

AU - Oakes, W. Jerry

AU - Walker, Marion

AU - Peterson, Paula

PY - 2003/3/1

Y1 - 2003/3/1

N2 - Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We examined the risk associated with having the thermolabile variant (TT) of MTHFR in a study of 175 American Caucasians with NTDs and their families. We found a significant association in patients compared with 195 unrelated controls [odds ratio (OR) = 2.13, 95 % confidence interval (95% CI) = 1.11-4.09)], but not in mothers (OR = 1.29, 95% CI = 0.622-2.67) or in fathers (OR = 1.45, 95% CI = 0.681-3.09). We found no evidence for unequal transmission from parents to an affected child (p > 0.10). We failed to find a previously reported association for a combined haplotype for MTHFR and cystathionine β-synthase, except in subjects with NTDs compared with 559 pooled controls (OR = 2.87, 95% CI = 1.03-8.03). We found no evidence for an association for a novel CA-repeat polymorphism identified in a gene closely linked to MTHFR (p > 0.10). Our studies continue to suggest that additional candidate genes other than MTHFR may be responsible for an increased risk to NTD in some American Caucasian families.

AB - Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We examined the risk associated with having the thermolabile variant (TT) of MTHFR in a study of 175 American Caucasians with NTDs and their families. We found a significant association in patients compared with 195 unrelated controls [odds ratio (OR) = 2.13, 95 % confidence interval (95% CI) = 1.11-4.09)], but not in mothers (OR = 1.29, 95% CI = 0.622-2.67) or in fathers (OR = 1.45, 95% CI = 0.681-3.09). We found no evidence for unequal transmission from parents to an affected child (p > 0.10). We failed to find a previously reported association for a combined haplotype for MTHFR and cystathionine β-synthase, except in subjects with NTDs compared with 559 pooled controls (OR = 2.87, 95% CI = 1.03-8.03). We found no evidence for an association for a novel CA-repeat polymorphism identified in a gene closely linked to MTHFR (p > 0.10). Our studies continue to suggest that additional candidate genes other than MTHFR may be responsible for an increased risk to NTD in some American Caucasian families.

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Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

Abstract

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