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 (<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.
Authors
- Luca Scapoli (ORCID: https://orcid.org/0000-0003-4006-9910)
- Roberto Pantoja (ORCID: https://orcid.org/0000-0002-9927-4356)
- Noemí Leiva Villagra
- José Suazo (ORCID: https://orcid.org/0000-0002-4175-5536)
- Carlos Salamanca
- Rosa Pardo
Institutions
- 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)
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
- 0.00
Funders
- Fondo Nacional de Desarrollo Científico y Tecnológico