Study of mthfr and ms polymorphisms as risk factors for ntd in the italian population

ABSTRACT  Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (_MTHFR_) gene is a risk factor for neural tube defects (NTDs) in many populations, including

Italians. Another common mutation on the _MTHFR_ gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggested that a defective methionine synthase

(_MS_) enzyme could be a critical defect in folate-related NTDs. An A-to-G transition at bp 2756 on the _MS_ gene has also been reported. In this case-control study, we studied the

frequencies of these two polymorphisms in 203 Italian probands with non-syndromic NTDs: 98 mothers, 67 fathers, and 210 control individuals. Although the A1298C polymorphism is common in the

Italian population (0.25), the allelic frequency was significantly higher among NTD cases and their parents. Heterozygous patients and mothers have an odds ratio (OR) of 1.98 and 2.11,

respectively. The risk associated with the 1298CC genotype was higher for cases (OR = 3.67), for fathers (OR = 3.28), and, above all, for mothers (OR = 6.23). The prevalence of the A2756G

polymorphism of the _MS_ gene was determined (0.15). No increased prevalence of the mutated G allele was found in NTD families. This study shows that the _MTHFR _A1298C polymorphism is a

genetic determinant for NTD risk in Italy. No association between the _MS _A2756G and NTD susceptibility was found. SIMILAR CONTENT BEING VIEWED BY OTHERS HETEROZYGOUS RARE VARIANTS IN

_NR2F2_ CAUSE A RECOGNIZABLE MULTIPLE CONGENITAL ANOMALY SYNDROME WITH DEVELOPMENTAL DELAYS Article 27 July 2023 HUMAN MYELOMENINGOCELE RISK AND ULTRA-RARE DELETERIOUS VARIANTS IN GENES

ASSOCIATED WITH CILIUM, WNT-SIGNALING, ECM, CYTOSKELETON AND CELL MIGRATION Article Open access 11 February 2021 TOWNES-BROCKS SYNDROME: GENOTYPE-PHENOTYPE CORRELATIONS OF _SALL1_ VARIANTS

IN OUR SERIES AND THE LITERATURE Article Open access 10 May 2025 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Istituto G. Gaslini, Largo G. Gaslini, 5 16148 Genova, Italy Tel.

+39-010-5636712; Fax +39-010-3993159 e-mail: [email protected]; [email protected], , , , , , IT P. De Marco, A. Moroni, L. Arata, E. Merello, L. Andreussi, A. Cama & V.

Capra * Servizio di Epidemiologia e Biostatistica, Istituto G. Gaslini, Genova, Italy, , , , , , IT M. Grazia Calevo * Institute of Biosciences and Technology, Texas A&M University

System Health Science Center, Houston, TX, USA, , , , , , US R. H. Finnell & H. Zhu Authors * P. De Marco View author publications You can also search for this author inPubMed Google

Scholar * M. Grazia Calevo View author publications You can also search for this author inPubMed Google Scholar * A. Moroni View author publications You can also search for this author

inPubMed Google Scholar * L. Arata View author publications You can also search for this author inPubMed Google Scholar * E. Merello View author publications You can also search for this

author inPubMed Google Scholar * R. H. Finnell View author publications You can also search for this author inPubMed Google Scholar * H. Zhu View author publications You can also search for

this author inPubMed Google Scholar * L. Andreussi View author publications You can also search for this author inPubMed Google Scholar * A. Cama View author publications You can also search

for this author inPubMed Google Scholar * V. Capra View author publications You can also search for this author inPubMed Google Scholar ADDITIONAL INFORMATION Received: January 17, 2002 /

Accepted: March 8, 2002 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE De Marco, P., Calevo, M., Moroni, A. _et al._ Study of MTHFR and MS polymorphisms

as risk factors for NTD in the Italian population. _J Hum Genet_ 47, 319–324 (2002). https://doi.org/10.1007/s100380200043 Download citation * Issue Date: June 2002 * DOI:

https://doi.org/10.1007/s100380200043 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not

currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words Neural tube defects * MTHFR gene * MTHFR A1298C * MS

gene * MS A2756G