Functional <i>MTR</i> and <i>MTRR</i> Variants Show No Association With Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

Objective To assess the association and interaction between MTR rs1805087 and MTRR rs1801394 polymorphisms and nonsyndromic cleft lip with or without cleft palate (NSCL ± P) in a Chilean population. Design A retrospective case-control study. Methods Rs1805087 and rs1801394 genotypes were extracted from an array for 248 cases and 479 controls. Association analysis was performed by logistic regression for additive, dominant and recessive models and gene-gene interaction was evaluated by a Multifactor Dimensionality Reduction algorithm. Results No association was detected for MTR rs1805087 ( p = . 870) or MTRR rs1801394 ( p = . 919) and NSCL/P or for their interaction ( p = . 197). Conclusion Our findings in Chile may be explained by no effect of these markers on NSCL ± P risk, as was described in other populations. However, we must be cautious with this conclusion due to the low statistical power for association (&lt;10%). Thus, replication studies may include higher sample sizes. In addition, other genes or variants for the methionine cycle as well as the interaction with environmental factors must be considered in future studies.

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Publication Details

Journal
The Cleft Palate-Craniofacial Journal
Published
2026-08-14
DOI
https://doi.org/10.1177/10556656261478181
Primary Topic
Folate and B Vitamins Research
Type
article
Field-Weighted Citation Impact
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article

Functional MTR and MTRR Variants Show No Association With Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

Luca Scapoli, Roberto Pantoja, Noemí Leiva Villagra, José Suazo et al.
The Cleft Palate-Craniofacial Journal
Folate and B Vitamins Research
article

Functional MTR and MTRR Variants Show No Association With Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

Luca Scapoli, Roberto Pantoja, Noemí Leiva Villagra, José Suazo, Carlos Salamanca, Rosa Pardo
article en

Abstract

Objective To assess the association and interaction between MTR rs1805087 and MTRR rs1801394 polymorphisms and nonsyndromic cleft lip with or without cleft palate (NSCL ± P) in a Chilean population. Design A retrospective case-control study. Methods Rs1805087 and rs1801394 genotypes were extracted from an array for 248 cases and 479 controls. Association analysis was performed by logistic regression for additive, dominant and recessive models and gene-gene interaction was evaluated by a Multifactor Dimensionality Reduction algorithm. Results No association was detected for MTR rs1805087 ( p = . 870) or MTRR rs1801394 ( p = . 919) and NSCL/P or for their interaction ( p = . 197). Conclusion Our findings in Chile may be explained by no effect of these markers on NSCL ± P risk, as was described in other populations. However, we must be cautious with this conclusion due to the low statistical power for association (&lt;10%). Thus, replication studies may include higher sample sizes. In addition, other genes or variants for the methionine cycle as well as the interaction with environmental factors must be considered in future studies.

The Cleft Palate-Craniofacial Journal
Universidad de La Frontera (CL), Universidad Autónoma de Chile (CL), Hospital Luis Calvo Mackenna (CL), Universidad Adventista de Chile (CL), Hospital Clínico de la Universidad de Chile (CL), Hospital San Borja Arriarán (CL), University of Chile (CL), University of Bologna (IT)
Fondo Nacional de Desarrollo Científico y Tecnológico
Life in Land
Openalex Percentile: Top 8%
Folate and B Vitamins Research
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Functional <i>MTR</i> and <i>MTRR</i> Variants Show No Association With Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile — Luca Scapoli, Roberto Pantoja, et al. · The Cleft Palate-Craniofacial Journal (2026) | TGRS Research Map | TGRS