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DOI 10.1177/10556656261478181

Медицинская библиотека · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026

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

Suazo José, Scapoli Luca, Salamanca Carlos, Leiva Villagra Noemi, Pantoja Roberto, Pardo Rosa

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ObjectiveTo 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.DesignA retrospective case-control study.MethodsRs1805087 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.ResultsNo association was detected for MTR rs1805087 (p = .870) or MTRR rs1801394 (p = .919) and NSCL/P or for their interaction (p = .197).ConclusionOur 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.

Для цитирования: Suazo José, Scapoli Luca, Salamanca Carlos, Leiva Villagra Noemi, Pantoja Roberto, Pardo Rosa. Functional MTR and MTRR Variants Show No Association With Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 2026. DOI: 10.1177/10556656261478181.
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