Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile

Salamanca, Carlos; González‐Hormazábal, Patricio; Recabarren, Andrea S; Recabarren, P; Pantoja, Roberto; Leiva, Noemí; Pardo, Rosa; Suazo, José

doi:10.1038/s41390-020-0994-3

Cited by 3 publications

(1 citation statement)

References 54 publications

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“…The authors postulated that the mutation protected against CL/P by decreasing enzymatic activity, thereby increased cellular folate levels. Three intronic alleles of MTR, involved in SAM metabolism, may also be protective against CL/P (Salamanca et al, 2020a). In contrast, the most widely documented polymorphism in folate metabolism, MTHFR c.677C>T, decreases enzymatic activity and has been associated with increased risk for CL/P (Ramirez‐Chau, Blanco, Colombo, Pardo, & Suazo, 2016).…”

Section: Metabolism Of Folates and Retinoids In Orofacial Cleftsmentioning

confidence: 99%

Environmental mechanisms of orofacial clefts

Garland

Reynolds

Zhou

2020

Birth Defects Research

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Orofacial clefts (OFCs) are among the most common birth defects and impart a significant burden on afflicted individuals and their families. It is increasingly understood that many nonsyndromic OFCs are a consequence of extrinsic factors, genetic susceptibilities, and interactions of the two. Therefore, understanding the environmental mechanisms of OFCs is important in the prevention of future cases. This review examines the molecular mechanisms associated with environmental factors that either protect against or increase the risk of OFCs. We focus on essential metabolic pathways, environmental signaling mechanisms, detoxification pathways, behavioral risk factors, and biological hazards that may disrupt orofacial development.

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Section: Metabolism Of Folates and Retinoids In Orofacial Cleftsmentioning

confidence: 99%

Environmental mechanisms of orofacial clefts

Garland

Reynolds

Zhou

2020

Birth Defects Research

View full text Add to dashboard Cite

show abstract

Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

et al. 2022

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PEMT Variants are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate in Chile

et al. 2022

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Aim: To assess the association between PEMT variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA methylation. Subjects & methods: The authors obtained genotypes for nine variants from 247 cases and 453 controls for genotype–phenotype associations. The effect of significant polymorphisms on global DNA methylation (percentage of long interspersed element-1 methylation) was evaluated in a subsample of 95 controls. Results: After multiple comparison corrections, variants rs7649 and rs4646409 were associated with nonsyndromic cleft lip with or without cleft palate. Carriers of risk alleles presented lower DNA methylation levels than noncarriers. Conclusion: According to functional analysis for risk variants from previous reports, the authors infer that a decrease of methyl group availability is occurring in affected subjects.

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Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile

Cited by 3 publications

References 54 publications

Environmental mechanisms of orofacial clefts

Environmental mechanisms of orofacial clefts

Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

PEMT Variants are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate in Chile

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