PEMT Variants are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate in Chile
To assess the association between variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA methylation. The authors obtained genotypes for nine variants from 247 cases and 453 controls for genotype-phenotype associations. The effect of...
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| Published in | Epigenomics Vol. 14; no. 17; pp. 987 - 993 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
01.09.2022
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| Subjects | |
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| Abstract | To assess the association between
variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA methylation.
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.
After multiple comparison corrections, variants
and
were associated with nonsyndromic cleft lip with or without cleft palate. Carriers of risk alleles presented lower DNA methylation levels than noncarriers.
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. |
|---|---|
| AbstractList | To assess the association between
variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA methylation.
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.
After multiple comparison corrections, variants
and
were associated with nonsyndromic cleft lip with or without cleft palate. Carriers of risk alleles presented lower DNA methylation levels than noncarriers.
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. 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.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. |
| Author | Suazo, José Leiva, Noemi Salamanca, Carlos Cáceres-Rojas, Gabriela Pardo, Rosa González-Hormazábal, Patricio Pantoja, Roberto |
| Author_xml | – sequence: 1 givenname: José orcidid: 0000-0002-4175-5536 surname: Suazo fullname: Suazo, José organization: Institute for Research in Dental Sciences, School of Dentistry, Universidad de Chile, Santiago, Chile – sequence: 2 givenname: Carlos surname: Salamanca fullname: Salamanca, Carlos organization: Institute for Research in Dental Sciences, School of Dentistry, Universidad de Chile, Santiago, Chile, Research Center in Dental Sciences (CICO), Dental School, Universidad de La Frontera, Temuco, Chile, Universidad Adventista de Chile, Chillán, Chile – sequence: 3 givenname: Patricio surname: González-Hormazábal fullname: González-Hormazábal, Patricio organization: Human Genetics Program, Institute of Biomedical Sciences, School of Medicine, Universidad de Chile, Santiago, Chile – sequence: 4 givenname: Gabriela surname: Cáceres-Rojas fullname: Cáceres-Rojas, Gabriela organization: Institute for Research in Dental Sciences, School of Dentistry, Universidad de Chile, Santiago, Chile – sequence: 5 givenname: Roberto surname: Pantoja fullname: Pantoja, Roberto organization: Unit of Oral & Maxillofacial Surgery, Hospital Clínico San Borja-Arriaran, Santiago, Chile, Department of Oral & Maxillofacial Surgery, School of Dentistry, Universidad de Chile, Santiago, Chile – sequence: 6 givenname: Noemi surname: Leiva fullname: Leiva, Noemi organization: Unit of Maxillofacial Malformations, School of Dentistry, Universidad de Chile, Santiago, Chile – sequence: 7 givenname: Rosa surname: Pardo fullname: Pardo, Rosa organization: Section of Genetics, Hospital Clínico Universidad de Chile, Santiago, Chile, Unit of Neonatology, Hospital Clínico Universidad de Chile, Santiago, Chile |
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| Snippet | To assess the association between
variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA... 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... |
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| SubjectTerms | Chile Cleft Lip - genetics Cleft Palate - genetics Genotype Humans Phosphatidylethanolamine N-Methyltransferase - genetics Polymorphism, Single Nucleotide |
| Title | PEMT Variants are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate in Chile |
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