Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects

Anne Parle-McDermott; Edward J. McManus; James L. Mills; Valerie B. O'Leary; Faith Pangilinan; Christopher Cox; Andrea Weiler; Anne M. Molloy; Mary Conley; Deborah Watson; John M. Scott; Lawrence C. Brody; Peadar N. Kirke

doi:10.1016/j.ymgme.2003.09.009

Polymorphisms within the vitamin B₁₂ dependent methylmalonyl-coA mutase are not risk factors for neural tube defects

Anne Parle-McDermott, Edward J. McManus, James L. Mills, Valerie B. O'Leary, Faith Pangilinan, Christopher Cox, Andrea Weiler, Anne M. Molloy, Mary Conley, Deborah Watson, John M. Scott, Lawrence C. Brody, Peadar N. Kirke

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B₁₂ (B₁₂) dependent enzymes in humans. A lower level of B₁₂ has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B₁₂ dependent enzymes. To investigate the role of methylmalonyl-CoA mutase variants we studied 279 complete NTD triads (NTD affected case and both parents) and 256 controls. Based on case-control and family based (transmission disequilibrium test) analyses we did not find an association between the mutase single nucleotide polymorphisms (SNPs) K212K (636A → G), H532R (1595A → G) and V671I (2011G → A) and NTDs. However, there was a significant difference in the frequencies of these polymorphisms between a group of African Americans and American Caucasians (K212K, P = 0.002; H532R, P ≤ 0.001; V671I, P = 0.006). In conclusion, common variants in the mutase gene do not appear to be risk factors for NTDs but their allele frequencies are significantly different between ethnic groups.

Original language	English (US)
Pages (from-to)	463-468
Number of pages	6
Journal	Molecular genetics and metabolism
Volume	80
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2003.09.009
State	Published - Dec 2003
Externally published	Yes

Keywords

B
Folate
Homocysteine
MMA
MTHFR
MUT
Methylmalonyl-CoA
Neural tube defects
Spina Bifida

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

Access to Document

10.1016/j.ymgme.2003.09.009

Cite this

Parle-McDermott, A., McManus, E. J., Mills, J. L., O'Leary, V. B., Pangilinan, F., Cox, C., Weiler, A., Molloy, A. M., Conley, M., Watson, D., Scott, J. M., Brody, L. C., & Kirke, P. N. (2003). Polymorphisms within the vitamin B₁₂ dependent methylmalonyl-coA mutase are not risk factors for neural tube defects. Molecular genetics and metabolism, 80(4), 463-468. https://doi.org/10.1016/j.ymgme.2003.09.009

Parle-McDermott, A, McManus, EJ, Mills, JL, O'Leary, VB, Pangilinan, F, Cox, C, Weiler, A, Molloy, AM, Conley, M, Watson, D, Scott, JM, Brody, LC & Kirke, PN 2003, 'Polymorphisms within the vitamin B₁₂ dependent methylmalonyl-coA mutase are not risk factors for neural tube defects', Molecular genetics and metabolism, vol. 80, no. 4, pp. 463-468. https://doi.org/10.1016/j.ymgme.2003.09.009

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abstract = "Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B12 (B12) dependent enzymes in humans. A lower level of B12 has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B12 dependent enzymes. To investigate the role of methylmalonyl-CoA mutase variants we studied 279 complete NTD triads (NTD affected case and both parents) and 256 controls. Based on case-control and family based (transmission disequilibrium test) analyses we did not find an association between the mutase single nucleotide polymorphisms (SNPs) K212K (636A → G), H532R (1595A → G) and V671I (2011G → A) and NTDs. However, there was a significant difference in the frequencies of these polymorphisms between a group of African Americans and American Caucasians (K212K, P = 0.002; H532R, P ≤ 0.001; V671I, P = 0.006). In conclusion, common variants in the mutase gene do not appear to be risk factors for NTDs but their allele frequencies are significantly different between ethnic groups.",

keywords = "B, Folate, Homocysteine, MMA, MTHFR, MUT, Methylmalonyl-CoA, Neural tube defects, Spina Bifida",

author = "Anne Parle-McDermott and McManus, {Edward J.} and Mills, {James L.} and O'Leary, {Valerie B.} and Faith Pangilinan and Christopher Cox and Andrea Weiler and Molloy, {Anne M.} and Mary Conley and Deborah Watson and Scott, {John M.} and Brody, {Lawrence C.} and Kirke, {Peadar N.}",

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AU - Weiler, Andrea

AU - Molloy, Anne M.

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AU - Watson, Deborah

AU - Scott, John M.

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AU - Kirke, Peadar N.

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AB - Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B12 (B12) dependent enzymes in humans. A lower level of B12 has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B12 dependent enzymes. To investigate the role of methylmalonyl-CoA mutase variants we studied 279 complete NTD triads (NTD affected case and both parents) and 256 controls. Based on case-control and family based (transmission disequilibrium test) analyses we did not find an association between the mutase single nucleotide polymorphisms (SNPs) K212K (636A → G), H532R (1595A → G) and V671I (2011G → A) and NTDs. However, there was a significant difference in the frequencies of these polymorphisms between a group of African Americans and American Caucasians (K212K, P = 0.002; H532R, P ≤ 0.001; V671I, P = 0.006). In conclusion, common variants in the mutase gene do not appear to be risk factors for NTDs but their allele frequencies are significantly different between ethnic groups.

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